Alpha-1-To-One Magazine | Vol. 16, No. 2 (Fall 2018)

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Vol. 16, No. 2 • FALL 2018

A MAGAZINE OF THE ALPHA-1 FOUNDATION

ALPHA- -TO-ONE Practical advice, personal experiences and

pertinent news for people touched by ALPHA-1

Ahead of his

TIME PAGE 4

Motivations of Research

PAGE 18

23andMe & Alpha-1

PAGE 20

Pediatric Liver Disease PAGE 14

LETTER FROM THE FOUNDATION LEADERSHIP

Our Strength as a

Community W

e have every reason to be proud of our Alpha-1 community. The 27th Annual National Education Conference in San Francisco was a total success.

Over 560 people attended, and most important of all, almost a third of those present were first time attendees, meaning awareness about Alpha-1 Antitrypsin Deficiency (Alpha-1) is spreading throughout new places, new families and new members of our community. It is precisely that strength as a community that will help us fulfill our mission of finding a cure for Alpha-1 and improving the lives of those affected by the condition, worldwide.

To continue moving that mission forward, the Alpha-1 Foundation launched its 2018 - 2019 In-Cycle Grants program in July. The Foundation offers financial awards to support a wide range of meritorious research related to Alpha-1, including basic laboratory investigations, epidemiology, clinical genetics, clinical trials, clinical management, ethical, legal, and social issues, and public education. Recipients of the 2017 2018 In-Cycle Grants can be seen on pages 6-7.

These are exciting times in science, as clinical trials continue to advance, new therapies are being studied, and new areas of research are being opened. We are committed to advancing the science of Alpha-1 and will keep at it until we find the cure.

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ALPHA- -TO-ONE Practical advice, personal experiences and pertinent news for people touched by Alpha-1, their families and friends VOL. 16, NO. 2 (Fall 2018) Published by the Alpha-1 Foundation 3300 Ponce de Leon Blvd., Coral Gables, FL 33134 (877) 2 CURE A1 (228-7321) www.alpha1.org Alpha-1 Foundation Board of Directors Executive Committee Jeanine D’Armiento, MD, PhD, Chair James Quill*, Vice-Chair & Treasurer Elizabeth Johnson*, Secretary Martin R. Zamora, MD, Scientific Advisor Gordon Cadwgan, PhD*, Immediate Past Chair Members Virginia Clark, MD Kenneth Irvine + Jennifer Jopp* Ann Knebel, PhD, RN Noel G. McElvaney, MD, Mch, BAO, FRCPI, FRCPC James K. Stoller, MD, MS (Org. Dev.) Fred Walsh* Frank Willersinn, MD* Alpha-1 Foundation Executive Staff Mark B. Delvaux, Vice President and CFO Eddie Gloria, Chief Operating Officer Adam Wanner, MD, Scientific Director Robert Sandhaus, MD, PhD, FCCP, Clinical Director Alpha-1-to-ONE Editorial Board Jen Childress +; William J. Martin II, MD; Robert A. Sandhaus, MD, PhD, FCCP; Bruce C. Trapnell, MD Executive Editor Karen Erickson Managing Editor Bernardo A. Pisani Digital Media Manager Maria Virginia Deliz Editorial Manager Alejandro E. Hernandez Padilla Contributing Editors Alexis E. Artiles; Barbee Bennington; Kim Foil, MS, CGC; Cathey Horsak; Richard Lovrich; Angela McBride; Marelis Requejado; Linda Rodriguez; Philip Rosenthal, MD

We also celebrate our leadership. After more than two decades of dedicated service to the Alpha-1 community, serving as president and CEO of AlphaNet and as executive vice president and CFO of the Foundation, Robert Barrett has retired, leaving behind an amazing legacy of accomplishments (more on Barrett can be read on pages 4-5). The Foundation’s board of directors has a brand-new chair, a passionate and dedicated physician who is an accomplished Alpha-1 researcher and clinician, Jeanine D’Armiento, MD, PhD.

ALPHA-1-TO-ONE is published by the Alpha-1 Foundation with support from its advertisers. No part may be reproduced in any form by any means without prior written permission of the Alpha-1 Foundation. The contents are not intended to provide medical advice, which should be obtained directly from a physician. The Foundation is not responsible for the accuracy of information expressed in advertisements in this publication.

Come on in, read through the Fall 2018 issue of the Alpha-1-to-ONE magazine, our flagship publication, and join the Alpha-1 community; more than a community, a family.

The Alpha-1 Foundation is committed to finding a cure for Alpha-1 Antitrypsin Deficiency and to improving the lives of people affected by Alpha-1 worldwide. *Diagnosed with Alpha-1 Antitrypsin Deficiency + Diagnosed Family Member

Advertising: For advertising inquiries, please contact Angela McBride, Director of Corporate Relations and Community Engagement, at (877) 228-7321 ext. 233, or amcbride@alpha1.org.

Letters to the Editor: Please send letters to the editor to bpisani@alpha1.org. Letters may be edited for clarity and length.

1 ALPHA-1 FOUNDATION

1.877.2.CURE.A1 (228.7321)

Vol. 16, No. 2 • FALL 2018

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­­­Inside ­­­ALPHAFeatures

A MAGAZINE OF THE ALPHA-1 FOUNDATION

-TO-ONE

SPOTLIGHT

Robert Barrett: Ahead of his time After 20 years of steering ground-breaking AlphaNet, Robert C. Barrett retires......... page 4 FRONTIERS

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The 2018 research grants Thirteen scientists will receive a total of $2.3 million for their research projects..... page 6 Irina Petrache: The motivation of research A combination of curiosity about science and helping people led to her career.......... page 18 Research studies Opportunities for Alphas to get involved in research studies........................................ page 32 ALPHA LIFE

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The journey of Jonathan Maidment An emergency evacuation didn’t keep “Money Maker” from exceeding his goal...... page 17 Educational scholarships for 2018 The Alpha-1 Foundation continues its educational scholarships program................ page 11 DC Young: “This is the way you get to play the game” When advocacy and family testing are of determining importance............................ page 28 ALPHA-1 KIDS

Growing and learning with Alpha-1 The Kemmerer family’s journey facing Alpha-1 Antitrypsin Deficiency.................. page 26 IN YOUR INTEREST

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National Education Conference: Alphas at their best San Francisco, California, was the site of the biggest gathering of Alphas in the world.......... page 12 23andMe: A new source of information on Alpha-1 In April 2017, the FDA authorized 23andMe to include Alpha-1............................. page 20 ALPHA-1 COMMUNITY

Steve Petty: “I live a very rewarding life” AlphaNet coordinator encourages all Alphas to live their lives to the fullest....................... page 22 Great Lakes Alphas revitalize support groups Support groups in Indiana, Ohio and Michigan get new leaders................................ page 8 ASK THE ALPHA DOC

Philip Rosenthal, MD, tackles essential questions on pediatric Alpha-1 liver disease........... page 14

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2018-2019 CALENDAR

Support group meetings, events and education on Alpha-1.......................................... page 31

fb.com/alpha1foundation www.alpha1.org

@AlphaFriend

@alpha1foundation­­­

@Alpha-1FDN 3

SPOTLIGHT

Robert Barrett: Ahead of his time I

n the summer of 2018, AlphaNet president and CEO Robert C. Barrett announced his retirement after 20 years of steering the groundbreaking not-for-profit organization. This change comes after many accomplishments and successes for AlphaNet, and for the Alpha-1 Foundation, of which he was also executive vice president and CFO. After the Foundation and AlphaNet were founded in 1995 by John W. Walsh, Susan Stanley and Sandy Lindsey, it did not take long to realize the organizations would benefit from an experienced financial expert. On a recommendation, Barrett was contacted and hired by the time the organizations were just two years old.

Barrett came on board as the CFO of both AlphaNet and the Foundation and Walsh, the late co-founder of the Foundation, was the CEO of both organizations. Barrett was soon running the day-to-day operations of AlphaNet, whose primary services at the time were a not-for-profit home IV company and pharmacy.

Barrett had earned his BS degree in Economics from Manhattan College, in Riverdale, NY, and his MBA in Healthcare Administration from the University of Miami, in Coral Gables, FL. Barrett joined AlphaNet with vast experience in the healthcare industry. He had already worked over 25 years in hospital management and laboratory services administration and healthcare finance. He also possessed a clear vision of executive leadership and organizational development. His beginnings date back to the 1970s, in New York, where he developed skills at St. Vincent’s Hospital and Medical Center as a budget coordinator, and then he moved to Florida where he continued his professional journey.

Barret and Walsh complemented each other in the work they did for the Alpha-1 community. Walsh

was a consummate visionary and Barrett executed strategies and ensured the fiscal health of the organizations.

Walsh created a model unlike any the rare disease communities had ever seen, and together he and Barrett launched the current structure of AlphaNet, with Alphas serving Alphas through a unique patient-driven business model that pushes advocacy to a new level, through customized patient care and innovative disease management, all while funding research for a cure. The concept was to keep any financial resources expended by Alphas, within the Alpha-1 community – channeling “profits” into needed medical research.

“Through unique disease management partnerships, strong board oversight and rigorous fiscal controls, we have been able to consistently produce excess revenues to support the Alpha-1 community,” said Barrett in a recent statement.

Robert Sandhaus, MD, PhD, FCCP; John Walsh and Robert Barrett celebrate AlphaNet’s 2001 milestone donation of $250,000 for Alpha-1 research and programs.

AlphaNet makes available a comprehensive disease management and prevention program to improve the quality of life of those affected by

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director, Robert Sandhaus, MD, PhD, FCCP. “He has Alpha-1 Antitrypsin Deficiency (Alpha-1). Currently, never told anyone about the work that he has done to help the organization employs 60 Alphas as Patient Service Alpha-1 individuals. The only way that any of us would Coordinators to serve more than 6,300 Alphas in the U.S. know about this is if we were and Canada. somehow involved or because “Bob Barrett is to be thanked Barrett and Walsh complemented I am telling you now. He for the outstanding work he has reached out and helped has done for AlphaNet and each other in the work they did families with everything the Alpha-1 community. from dental care to burials,” for the Alpha-1 community.

AlphaNet enjoyed great Sandhaus expressed. success under his leadership for “Although not a genetic 20 years. His high energy level Walsh was the consummate Alpha, he has always been and attention to detail allowed visionary and Barrett was the the biggest Alpha of all, the board of directors to run hiring, taking care of smoothly and effectively. We leader who executed strategy Alphas, and building our were blessed to have Bob at and ensured the fiscal health organizations, a heart of the helm,” expressed Robert gold in a great business L. Greene, Jr., board chairman of the organization. man. He is our $55 millionof AlphaNet, and AlphaNet dollar Alpha,” said Ab Rees, Canada, upon Barrett’s member of the Foundation retirement. board of directors and treasurer to the AlphaNet board.

During Barrett’s tenure, AlphaNet grew into a successful With Barrett at the helm of AlphaNet, the organization patient-driven disease management organization and contributed more than $55 million to the Alpha-1 became the go-to Alpha-1 contract research organization, Foundation for research and programs, and published that running clinical trials that would eventually lead to Alphas have an increased life expectancy when followed by the approval of three additional augmentation therapy AlphaNet and on augmentation therapy. The AlphaNet products. Over the years, he negotiated long-term contracts model conceived by Walsh, and Barrett’s contributions and fostered relationships with the organization’s key to the community, remain unrivaled in the rare disease biologic - pharmaceutical partners. Barrett also expanded management space and prove that our community has truly AlphaNet’s health management services with the addition been led by two visionaries. of AlphaNet Canada.

There are many other successes Barrett drove in his tenure at AlphaNet and the Foundation that are far less known, as he was forward thinking. He understood the importance of the patient experience and how those experiences would be an incredible guide to others as they were diagnosed and entered the community.

The AlphaNet coordinators were brought together and their experiences were captured. They, along with scientific and medical leaders on Alpha-1, articulated the best practices for living well with the condition and published them in The Big Fat Reference Guide. This content continues to guide Alphas, their friends and families in their journey with Alpha-1.

Using Walsh’s AlphaNet model, the life of Alphas was captured and has led to a deeper understanding of Alpha-1, its progression and management. This type of work, along with a collection of patient reported data, are the top trends in the rare disease research and support arenas today – trends Barrett beat by nearly two decades as they forged paths to serve the Alpha-1 community.

Robert Barrett and his wife, Charlotte, have always supported “There are many things that Bob wouldn’t want me to talk the Foundation’s signature fundraiser, Celebration of Life. about because of his humility,” said AlphaNet’s medical www.alpha1.org

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FRONTIERS 6

More than

$2.3 million in grants for Alpha-1

research

T

he grant awardees for research on Alpha-1 Antitrypsin Deficiency (Alpha-1) were announced in May by the Alpha-1 Foundation. There were 13 grant recipients for the In-Cycle awards, who will receive a total of $2.3 million for their projects, and one recipient for the John W. Walsh Translational Research Award who will receive $225,000 over three years.

Since 1995, the Foundation has invested more than $71 million to support Alpha-1 research and programs at 112 institutions in North America, Europe, the Middle East and Australia. Annual In-Cycle Grants are a regular part of the Foundation’s overall research program.

Research is at the core of our work because it moves forward our mission of finding a cure for Alpha-1.

This has been consistent since it was determined by our founders, many years ago. Research and our community are and will always be our priorities.

Throughout the last 23 years, the grants have concentrated on basic research and novel therapies (73%), clinical research (19%) and ethical, legal, social and detection issues (8%). As per the fields of study, 42% of the grants have been dedicated to the liver, 41% to the lungs and 17% of them have covered liver and lungs.

According to Adam Wanner, MD, scientific director of the Foundation, “the In-Cycle research grant program is at the core of the Foundation’s overall research program because it has its focus on basic science that is likely to identify novel drug targets for the treatment of Alpha-1 liver and lung

disease. Discoveries made by investigators supported through the In-Cycle program have provided the basis for the Foundation to partner, through The Alpha-1 Project (TAP), with biotech companies to develop new therapeutic solutions.”

The Grants Award Program is the Foundation’s mechanism to fund a broad range of research that leads to improvements in the lives of people affected

by Alpha-1. The specific goals of the program are: • to promote basic science and clinical research related to the alpha-1 antitrypsin protein ATT and AAT Deficiency; • to attract and train clinical researchers for the study of AAT Deficiency; • to support and encourage established scientists to work on clinical problems and ethical, legal, and social issues within the field of AAT research (with a preference given to new investigators); and ultimately, • to develop effective therapies for the clinical manifestations of AAT Deficiency.

Research Susan Ferro-Novick, PhD The Regents of the University of California, San Diego The role of autophagy in the degradation of Alpha-1 Antitrypsin Z variant.

Daniel Hebert, PhD University of Massachusetts, Amherst Alpha-1 Antitrypsin folding and maturation in the cell.

Mariana Kirst, PhD University of Florida Gut Microbiota in Alpha-1 Antitrypsin Deficiency Liver Disease.

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Stefanie Krajewski, PhD University of Tuebingen, Medical Faculty, Denmark Messenger RNA as a novel treatment option for Alpha-1 Antitrypsin Deficiency.

Rita Vanbever, PhD Universite Catholique De Louvain, Belgium Development of a novel form of Alpha-1Antitrypsin for inhalation.

David Lomas, MD, PhD University College London, U.K. Development of a diagnostic technology to image Z Alpha-1 Antitrypsin polymers in vivo.

Andrew Wilson, MD Trustees of Boston University, BU Medical Campus Functional characterization of risk modifier gene MAN1B1 in patient-derived hepatocytes.

Pasquale Piccolo, PhD Fondazione Telethon, Italy Metabolic alterations in liver disease due to mutant Z Alpha-1 Antitrypsin.

Bin Zhang, MD Cleveland Clinic Foundation ER-to-Golgi transport of Alpha-1Antitrypsin.

Emer Reeves, PhD Royal College of Surgeons in Ireland Targeting neutrophil driven autoimmunity in patients with Alpha-1 Antitrypsin Deficiency.

Elizabeth Sapey, PhD University of Birmingham, U.K. Causes of failure of opsonophagocytosis of non-typeable haemophilus influenzae in AATD.

Richard Sifers, PhD Baylor College of Medicine Unconventional mechanics responsible for selecting the ATZ monomer for ERAD.

Pilot and Feasibility Karina Serban, MD National Jewish Health Induced pluripotent stem cells-derived alveolar macrophages phenotype and function in AATD.

John W. Walsh Translational Research Award Joseph Kaserman, MD Boston University School of Medicine and Boston Medical Center Defining PiMZ AATD Liver Disease Susceptibility with CRISPR Targeted Syngeneic iPSCs.

For more information on Alpha-1 research, please visit our Research Section at a1f.org/grants-overview www.alpha1.org

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ALPHA-1 COMMUNITY

Great Lakes Alphas revitalize support groups Illiana Alpha-1 Support Group Terre Haute, IN Reaching Alphas in the small towns bordering central Illinois and Indiana led Donna Davis to start the Illiana Alpha-1 support group. “Reaching out to someone immediately is so important. We let them know they are not alone.” Davis and her husband Tim talk with a lot of people in the area, “As an Alpha, Tim helps give people hope.”

They also reach out to doctors and nurses in the area to educate them about Alpha-1. Also, they hope they are increasing the quality of care for Alphas.

North Indiana Alpha-1 Support Group Fort Wayne, IN One of the things that made Mel Cormican fall in love with his wife, Carla, was her desire to help other Alphas. In fact, Carla inspired him to get involved with the Alpha-1 community. So much so, that this year, he became the leader of the North Indiana support group.

“We provide personal support and encouragement so that folks can ask their doctors the hard questions and get the best care they can,” said Cormican.

“We’re excited to be bringing awareness about Alpha-1 to this new group.”

Northwest Indiana (NWI) Support Group Dyer, IN Dawn Bailey and her Alpha husband, Rob, were active members of the Chicagoland Alphas support group in Wood Dale, IL, of which Bailey became its leader in 2015. But they realized there was a need for a support group closer to home in Dyer, IN. “I knew there were people in the area who weren’t able to make the one-hour drive to Wood Dale,” said Bailey.

In August, the Northwest Indiana (NWI) support group had their second meeting, and after that 8

meeting Bailey reflected on how others have helped them so much along the way. “We want to show others the path, the way we were shown. I feel like I’m finally starting to come into my own.”

Toledo Glass City Alpha-1 Support Group Toledo, OH Ohio Alpha, Kari Black, used to split her time between the Columbus support group over two hours away and crossing state lines to the Michigan Alphas support group in Detroit one hour away.

When her health began to decline, she couldn’t keep up with the travel. “I wanted to become more active and learn by doing, but I had to do that closer to home,” recalled Black.

The Toledo Glass City Alpha-1 support group has met twice. For their August meeting they toured a plasma donation center. “Sometimes we forget that our therapy comes from real people who give their time and their plasma to help us.”

Michigan Alphas Support Group Detroit, MI After he attended his first Alpha-1 National Education Conference in 2013, Bart Flook started a Facebook group for Southeast Michigan Alphas.

Soon, he was sharing helpful tips and humorous posts to brighten the day of Alphas across the country.

“I wanted the world to know about Alpha-1. Like John Walsh used to say, we need to become that Alpha-1 Army. Not just to cure it, but to help people know about this so they can be tested.” Flook wasn’t looking to become a support group leader, but when the need arose in 2017, his wife Doreen, encouraged him. Recently Judy Lyle Harnois also stepped up to co-lead the group.

“When the person you most love in the world has Alpha-1, you step out of your comfort zone,” said Flook.

1.877.2.CURE.A1 (228.7321)

NOW AVAILABLE READY-TO-INFUSE

PROLASTIN C LIQUID

The #1 prescribed alpha-1 therapy for over 25 years is now available in a new, ready-to-infuse liquid formulation.

• 15-minute infusion time remains the same • Proven to effectively raise the alpha1-antitrypsin protein levels in patients with alpha1-antitrypsin deficiency, also known as alpha-1

• With PROLASTIN-C LIQUID, all your PROLASTIN DIRECT® program benefits and services remain the same

• The PROLASTIN DIRECT program gives you the confidence that ongoing personalized support is there for you when needed

Steve M. and his wife, Ellen.

Steve has been on therapy since 2007.

Visit our new website, www.prolastin.com/LIQUID, for more information and patient-friendly resources.

Important Safety Information PROLASTIN®-C LIQUID is an alpha1-proteinase inhibitor (human) (alpha1-PI) indicated for chronic augmentation and maintenance therapy in adults with clinical evidence of emphysema due to severe hereditary deficiency of alpha1-PI (alpha1-antitrypsin deficiency).

Hypersensitivity reactions, including anaphylaxis, may occur. Monitor vital signs and observe the patient carefully throughout the infusion. If hypersensitivity symptoms occur, promptly stop PROLASTIN-C LIQUID infusion and begin appropriate therapy.

Limitations of Use • The effect of augmentation therapy with any alpha1PI, including PROLASTIN-C LIQUID, on pulmonary exacerbations and on the progression of emphysema in alpha1-PI deficiency has not been conclusively demonstrated in randomized, controlled clinical trials

Because PROLASTIN-C LIQUID is made from human plasma, it may carry a risk of transmitting infectious agents, eg, viruses, the variant Creutzfeldt-Jakob disease (vCJD) agent, and, theoretically, the Creutzfeldt-Jakob disease (CJD) agent. This also applies to unknown or emerging viruses and other pathogens.

• Clinical data demonstrating the long-term effects of chronic augmentation or maintenance therapy with PROLASTIN-C LIQUID are not available

The most common adverse reactions during PROLASTIN-C LIQUID clinical trials in >5% of subjects were diarrhea and fatigue, each of which occurred in 2 subjects (6%).

• PROLASTIN-C LIQUID is not indicated as therapy for lung disease in patients in whom severe alpha1-PI deficiency has not been established PROLASTIN-C LIQUID is contraindicated in immunoglobulin A (IgA)-deficient patients with antibodies against IgA or patients with a history of anaphylaxis or other severe systemic reaction to alpha1-PI products.

© 2018 Grifols

Please see brief summary of the full Prescribing Information for PROLASTIN-C LIQUID on adjacent page.

You are encouraged to report negative side effects of prescription drugs to the FDA. Visit www.fda.gov/medwatch or call 1-800-FDA-1088.

All rights reserved

July 2018

BN/PRL/0618/0047(1)

PROLASTIN®-C LIQUID

Alpha1-Proteinase Inhibitor (Human) HIGHLIGHTS OF PRESCRIBING INFORMATION These highlights do not include all the information needed to use PROLASTIN®-C LIQUID safely and effectively. See full prescribing information for PROLASTIN-C LIQUID. PROLASTIN®-C LIQUID (Alpha 1-Proteinase Inhibitor [Human]) Solution for Intravenous Injection Initial U.S. Approval: 1987 ---------------INDICATIONS AND USAGE ------------PROLASTIN-C LIQUID is an Alpha1-Proteinase Inhibitor (Human) (Alpha1-PI) indicated for chronic augmentation and maintenance therapy in adults with clinical evidence of emphysema due to severe hereditary deficiency of Alpha1-PI (alpha1-antitrypsin deficiency).

Limitations of Use: • The effect of augmentation therapy with any Alpha1-PI, including PROLASTIN-C LIQUID, on pulmonary exacerbations and on the progression of emphysema in Alpha1-PI deficiency has not been conclusively demonstrated in randomized, controlled clinical trials.

• Clinical data demonstrating the long-term effects of chronic augmentation or maintenance therapy with PROLASTIN-C LIQUID are not available.

• PROLASTIN-C LIQUID is not indicated as therapy for lung disease in patients in whom severe Alpha1-PI deficiency has not been established.

-----------DOSAGE AND ADMINISTRATION--------For intravenous use only.

• Dose: 60 mg/kg body weight intravenously once per week.

• Dose ranging studies using efficacy endpoints have not been performed with any Alpha1-PI product, including PROLASTIN-C LIQUID.

• Use a sterile 15 micron in-line filter when administering the product (not supplied).

• Administration: 0.08 mL/kg/min as determined by patient response and comfort.

---------DOSAGE FORMS AND STRENGTHS------For injection: approximately 1,000 mg in a singleuse vial containing 20 mL of solution for injection.

------------------CONTRAINDICATIONS ---------------• Immunoglobulin A (IgA) deficient patients with antibodies against IgA. • History of anaphylaxis or other severe systemic reaction to Alpha1-PI. -----------WARNINGS AND PRECAUTIONS --------• Severe hypersensitivity and anaphylactic reactions may occur in IgA deficient patients with antibodies against IgA. Discontinue administration of the product and initiate appropriate emergency treatment if hypersensitivity reactions occur.

• Because PROLASTIN-C LIQUID is made from human plasma, it may carry a risk of transmitting infectious agents, e.g., viruses, the variant Creutzfeldt-Jakob disease (vCJD) agent, and, theoretically, the Creutzfeldt-Jakob disease (CJD) agent.

------------------ADVERSE REACTIONS---------------The most common adverse reactions during PROLASTIN-C LIQUID clinical trials in > 5% of subjects were diarrhea and fatigue, each of which occurred in 2 subjects (6%).

To report SUSPECTED ADVERSE REACTIONS, contact Grifols Therapeutics Inc. at 1-800520-2807 or FDA at 1-800-FDA-1088 or www.fda.gov/medwatch.

Grifols Therapeutics Inc. Research Triangle Park, NC 27709 USA U.S. License No. 1871

3045824-BS Revised: 9/2017

Educational Scholarships

E

very year the Alpha-1 Foundation awards educational scholarships to Alphas and their immediate family, aimed at assisting those in need to further their education.

The applications start in February, and the deadline is at the end of March. The awards granted in June honor the memory of several Alphas who have made a difference within the Alpha-1 community.

The Peter Smith Educational Scholarship for 2018 was awarded to Patrick Trunfio from Townsend, Delaware. Patrick was diagnosed with Alpha-1 when he was a few weeks old, and has been aware of his condition for as long as he can remember, but luckily has not been affected by it.

He enjoys lacrosse and has even worked as a soccer referee.

“I plan to use the scholarship award towards my tuition this upcoming year, as I attend the University of Southern California and major in mechanical engineering,” expressed Patrick.

“Thank you.”

Kayla Hart was awarded the Robert J. Haggerty Memorial Scholarship. She is from Columbia, Connecticut, and is currently researching Alpha-1 for her senior project. Kayla’s grandparents are involved in the Alpha-1 community and she shares with them the passion to promote awareness and support to those affected by Alpha-1.

“The most important lessons I have learned from Alpha-1 are perseverance and hope. I will use the scholarship to help pay for college expenses.

I want to go into nursing with a specialty in the pulmonary field to further educate myself about lung conditions like Alpha-1,” Kayla says.

www.alpha1.org

Cole Little from Culver, Oregon, was the recipient of this year’s John W. Walsh III Memorial Scholarship.

Cole’s experience with the Alpha-1 community is very close. His dad is an Alpha who just received a double lung transplant, and he and his brother are both advocates for Alpha-1 and the importance of being an organ donor.

“I use my brother’s website as a starting point for advocacy, as well as our personal story. I am going to Oregon Tech to play baseball and be a mechanical engineer. The scholarship money is a huge help, especially now that my dad is off work due to his transplant,” says Cole.

The Terry L. Young Memorial Scholarship was awarded to Owen Dubble from Bernville, Pennsylvania, who will be using his scholarship award to help pay his tuition at Penn State University, where he is a pre-mechanical engineering student.

“My personal experience with Alpha-1 has been a rollercoaster of emotions. One of them is my grandparents’ annual Alpha-1 fundraiser dance.

Here I get to see the Alpha-1 community support system and how family and friends come out to support those who suffer from the condition. It always makes me appreciate what I have a little bit more,” says Owen.

ALPHA LIFE

2018

Catherine Dyszel, from Girardville, Pennsylvania, received the Lou Glenn Memorial Scholarship, which she will use to fill a void in her financial aid to complete her degree.

Catherine has gone back to college for a BS in respiratory therapy, as she decided to impact people’s lives just like those who have made a significant mark on hers.

“I was diagnosed more than eight years ago and within days had an entire team of people at my disposal. The Alpha-1 community has put strong supportive, knowledgeable, compassionate individuals as detours to overcome the various road blocks on this journey,” Catherine expressed.

For more information on the scholarship process, eligibility criteria, application requirements, and how to donate to the Scholarship Fund, please visit a1f.org/educational-scholarship

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IN YOUR INTEREST

27th Annual National Education Conference:

Alphas at their best A

ny gathering of Alphas – as those people who live with Alpha-1 Antitrypsin Deficiency (Alpha-1) are known – is always a very special occasion. Empathy, friendship, positivism and camaraderie are forever present, and whether you are an Alpha or not, there are plenty of hugs, words of encouragement, advice, and support. That is the human side of Alpha-1: the feeling of fellowship that fills the air. So, when the time comes, once a year, to live through a National Education Conference, you find a large and unified community that comes together to cheer each other, listen to the latest advances on Alpha-1

Alpha Mary Lyle greets Alpha-1 specialist and researcher, Charlie Strange, MD

research and plan for the future.

Being present at one of these meetings is a rewarding, worthwhile experience. And so was the case when the Alpha-1 Foundation held its latest National Education Conference for Alphas and their family members and friends, where they met to listen to the worlds’ most prominent specialists, medical doctors, scientists, researchers and pharmaceutical industry representatives, explain the latest findings and developments about this rare condition.

The 27th Annual National Conference was held in San Francisco, CA on June 29 - July 1. The gathering brought together over 560 people. For 30% of them, this was their first conference.

On Friday evening the Building Friends for a Cure

(BFC) program awarded 2017-2018 fundraisers.

But the highlight of the evening was Jonathan Maidment, the 23-year old Alpha who undertook the challenge of hiking through the entire 2,600mile Pacific Crest Trail (PCT), from Southern California to the border between Washington state and Canada, but interrupted his journey for health reasons (see Jonathan’s story on page 17).

The evening culminated in a wonderful celebration of everyone in the Alpha-1 community charging forward to find a cure.

Margaret Anderson, managing director of Deloitte Consulting LLP, was the keynote speaker that opened the general session on Saturday, June 29th.

Her speech, titled Patients as Partners: Having A Seat at the Table, concentrated on the ways of creating partnerships to acquire strength to be able to secure participation in the decision-making processes.

Anderson’s message was in line with the theme of this year’s conference: On Track for a Cure: Connecting the Community, as finding a cure for Alpha-1will depend on how the Alpha-1 community remains solid and strong, and focused on obtaining spaces to create awareness, and participating actively in committees and discussion groups to

Alpha-1 Research Panel: Left to right, Robert Sandhaus, MD, PhD, Jeanine D’Armiento, MD, PhD, Mark Brantly, MD, Charlie Strange, MD, and Martin Zamora, MD

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Alpha-1 liver specialist Jeffrey Teckman, MD, makes a pun during his presentation on liver disease.

push forward influencing decision-makers.

On Saturday, there were 25 informational sessions on all kinds of subjects related to Alpha-1, from new treatment therapies and nutrition to the importance of participating in clinical trials, and the most updated information on liver and lung transplants. Through these conferences and through the nationwide series of Alpha-1 Education Days, the Foundation keeps filling the need of the Alpha-1 community to stay informed and educated about Alpha-1 and raise awareness worldwide about the importance of finding a cure.

On Saturday night, there was an awards dinner where the Alpha-1 community honored several people: Physician Appreciation Award: With sincere gratitude for his many years of dedication to Alpha-1 patients, and his volunteer service to the Alpha-1 Foundation, the Physician Appreciation Award was presented to Philip Rosenthal, MD. Peter Smith Achievement Award: With deep appreciation for his many years of dedicated service as a leader, Alpha-1 advocate and fundraiser for the Alpha-1 community, the Alpha-1 Foundation gave posthumously the Peter Smith Achievement Award to Gus Straub.

Sandra K. Brandley Leadership Award: In appreciation for her dedicated service as a Support Group Leader, providing patient support, education and advocacy to Ohio and Louisiana Alphas, and for her consistent volunteerism within the Apha-1 community, the Alpha-1 Foundation proudly presented the Sandra K. Brandley Leadership Award to Kim Mill. www.alpha1.org

Dennis Pollock Spirit of Advocacy Award: In recognition of his outstanding spirit, leadership and dedication to advocacy at the federal, state and local levels, the Alpha-1 community presented the Dennis Pollock Spirit of Advocacy Award to DC Young.

Inspirational Award: With deep appreciation for his many years of dedicated service, vision as a leader, Alpha-1 advocate and fundraiser for the Alpha-1 community, the Inspirational Award was presented to James Quill.

Alpha-1 Community Appreciation Award: On behalf of the Alpha-1 community, and for her support, dedication and service as executive vice president and chief operating officer for the Alpha-1 Foundation, from 2003 through 2017, the Alpha-1 Community Appreciation Award was presented to Marcia F. Ritchie.

Alpha-1 Community Appreciation Award: On behalf of Alphas everywhere, the Alpha-1 Foundation is forever grateful for his guidance and dedication, and congratulated Robert C. Barrett on his retirement and presented him the Alpha-1 Community Appreciation Award.

Celebrating Marcia F. Ritchie’s 14 years of service

Board of Directors Appreciation Award: The Board of Directors of the Alpha-1 Foundation gratefully recognized Gordon E. Cadwgan, PhD, for his years of invaluable service as Chair of the Board of the Alpha-1 Foundation from 2014 to 2018.

The Alpha-1 Foundation extends its appreciation to all those people who made possible this National Conference, including all the lecturers, as well as the corporations and individuals who have contributed so generously to make this event a success.

• Platinum sponsors: AlphaNet, CSL Behring, Grifols, and Shire • Gold sponsor: Dohmen Life Science Services The conference presentations are available to view online at a1f.org/Education-Videos 13

ASK THE ALPHA DOC

Pediatric

LIVER My 8-year-old SZ has had ongoing iron deficiency for five years, though he is an excellent eater. He has had several iron infusions, two endoscopies, camera capsule and colonoscopy, and all found nothing. Is there a link between iron deficiency and Alpha-1 Antitrypsin Deficiency (Alpha-1)?

A

ctually, there is a link between Alpha-1 and iron overload, but not iron deficiency.

A study done utilizing archived plasma samples from the Alpha-1 Foundation (30 MM, 30 MZ, and 30 ZZ individuals) were analyzed. Alpha-1 is associated with evidence of a disruption in iron homeostasis with plasma ferritin and with nonheme iron concentrations being elevated among those with the ZZ genotype.1 He should be seen by a hematologist to evaluate for other potential causes of iron deficiency if he is not already under the care of such a specialist.

I suspect your child’s iron deficiency is not the result of Alpha-1 alone. Some questions to address with your child’s specialist: Does your child have severe liver disease or cirrhosis?

Does he have a large spleen and evidence of esophageal varices on the endoscopies, capsule camera study and colonoscopy? (Portal hypertension can lead to gastrointestinal blood loss from bleeding from varices.)

Philip Rosenthal, MD

Seems like most liver-affected children are on Ursodiol, but at a recent Alpha-1 Education Day Dr. Teckman mentioned kids might do better without this. Is this recommended for treatment? Why? Are there studies that support its use? rsodiol (ursodeoxycholic acid) is a nontoxic bile acid used in patients with cholestatic liver disease. It is used to dilute the patient’s toxic bile acid pool with a nontoxic bile acid. It also works as a choleretic to stimulate bile flow.

U

I contacted Dr. Teckman about this, and he said that he did not recommend ursodeoxycholic acid for Alpha-1 as there are no studies supporting

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1.877.2.CURE.A1 (228.7321)

its use specifically in Alpha-1. He also cautioned about its use, as studies in adults with primary sclerosing cholangitis (another cholestatic liver disease), when used in high doses, had a worse outcome. “I personally would not prescribe it to an Alpha-1 patient unless he had cholestasis,” answered Teckman.

I have two children with Alpha-1, ZZ. One of them is liver-transplanted and started with allergies this year, at age 11. When should they start to be seen by a lung specialist, how often and what kind of exams they should do to prevent lung disease?

Y

our child with ZZ who had a liver transplant now has the phenotype of his donor’s liver. The donor was likely normal and had a liver that produced normal alpha-1 antitrypsin. It will do the same in your child’s body. His lungs are now protected through therapeutic/normal levels of Alpha-1 Antitrypsin in his blood and should not develop Alpha-1-related lung disease.

However, your other child with ZZ phenotype is at risk for both lung and liver disease, as a result of Alpha-1. Do not forget the deficiency is in the blood and not the liver. The liver issue is the result of misfolded protein being unable to get out of the liver and thus causing liver damage. The lung issue is the result of a deficiency of the protein in the blood that normally would protect the lung from injury.

I am not a pulmonologist (lung specialist), but I think it would be wise to have your child seen by a lung specialist if he is old enough to participate in pulmonary function tests (usually around school age). If your child is symptomatic with what is described as allergies, asthma, coughing or other respiratory symptoms, I would suggest being seen by the lung specialist sooner. Be sure to advise the pulmonologist that your child has ZZ Alpha-1.

(Ghio AJ, Soukup JM, Richards JH, Fischer BM, Voynow JA, Schmechel DE. Deficiency of a-1-antitrypsin influences systemic iron homeostasis. Int J Chron Obstruct Pulmon Dis. 2013;8:45-51. doi: 10.2147/COPD.S37897.

1

www.alpha1.org

What are the everyday things to stay away from that can cause liver or lung damage besides smoking? everal every day practices should be avoided, whether you have Alpha-1 or not, including smoking, second hand smoke, pollution, alcohol, and liver-toxic herbs and drugs.

S

There is also the question of what is better for pain and fever for Alpha-1 patients: acetaminophen (Tylenol) or nonsteroidal anti-inflammatory drugs (NSAIDs) (e.g., Motrin, Advil). Dr. Teckman and colleagues demonstrated in the mouse model of Alpha-1 that NSAIDs are more harmful to the liver than acetaminophen.2 They concluded, environmental factors, such as exogenous medication administration, can increase the likelihood of liver injury associated with alpha(1)-ATZ hepatic accumulation; NSAIDs may be especially injurious to patients with Alpha-1, possibly by increasing the expression and accumulation of the hepatotoxic mutant protein. While these data are not in humans (and likely will never be tested), it suggests that acetaminophen is safer, and that is what I recommend to my patients. However, it is important that you don’t exceed the recommended dosing of acetaminophen.

Dr. Philip Rosenthal is the Director of Pediatric Hepatology, Director of Pediatric Clinical Research and a Professor of Pediatrics and Surgery at the University of California, San Francisco.

(Rudnick DA, Shikapwashya O, Blomenkamp K, Teckman JH. Indomethacin increases liver damage in a murine model of liver injury from alpha-1-antitrypsin deficiency. Hepatology. 2006 Oct;44(4):976-82. PMID: 17006946).

2

15

Virtual

ALPHA-1 WALK ANYTIME ANYWHERE IN NOVEMBER

Walk on your own or form a team!

Organize an event in your area! Whether you go for a stroll around the neighborhood, your local park, or even take a few steps around the house, your participation means we’re that cure.

Contact Angela McBride, 877-228-7321 ext. 233 or amcbride@alpha1.org

HSWOH VYN ]PY[\HS^HSR Angela McBride

Building Friends for a Cure

amcbride@alpha1.org

888-825-7421 ext. 233

J

Journey

onathan Maidment, the 23-year old Alpha who started back in April a hikethru of the entire 2,600-mile Pacific Crest Trail (PCT), from Southern California to Canada, interrupted his journey for health reasons, but his quest is far from over. Jonathan is known as the “Money Maker” for his fundraising efforts in favor of research for Alpha-1 Antitrypsin Deficiency (Alpha-1).

While on the trail and after a few days of severe abdominal pain he had to be air lifted from Sierra Mountains to a hospital, where he had emergency surgery for a perforated abscess and was hospitalized for ten days.

“Even though I am deeply upset about this, I want to thank everyone who has supported me throughout my journey; for everything that you all have done from donating to leaving encouraging messages on my Hiking 4 A Cure Facebook page,” expressed Jonathan.

Jonathan Maidment at the 14,505 ft. summit of Mt. Whitney on day 66 of his hike on the Pacific Crest Trail

www.alpha1.org

Jonathan with his parents, Alpha-1 foundation staff and community supporters during the 27th Annual National Education Conference in San Francisco, CA.

He attended the Alpha-1 National Education Conference in San Francisco from June 29th to July 1st and was moved by everyone’s generosity as the Alpha-1 community did not want this journey to end on a sad note. They stepped up, emptied their pockets, and donated very generously towards the original goal that Jonathan had set at the beginning of his hike of $50,000.

Out of that goal, more than $13,000 had been raised while Jonathan was on the trail, and a matching gift was offered, along with other contributions. In one night, more than $80,000 had been raised for the Alpha-1 Foundation.

“I want to publicly thank Ken Benson, the Straub family, conference attendees, as well as other anonymous donors for their generosity and contributions, and to all the people who I met throughout my journey including hikers and townies, thank you for making this a wonderful and unforgettable experience,” says Jonathan.

Even though he may be done with the trail this year, that does not mean that he is not coming back on the PCT. Hiking the PCT has been a dream of his for years.

When he is completely recovered, he plans to come back eventually and finish what he started. The question is not if he will do it, but rather when he will do it.

All the support he received and the work of the Alpha-1 Foundation have been an inspiration to Jonathan, and he is especially thankful to the late John W. Walsh co-founder of the Foundation. Walsh had the vision and the foresight for what he wanted from the Foundation, and he never wanted to quit working until a cure was found.

“Now it is our turn to finish what he started and to find a cure for Alpha-1 Antitrypsin Deficiency,” exclaims Jonathan.

“I have no doubt that Jonathan will be back. We applaud him and his family for all they have done for our community,” says Angela McBride, director of corporate relations and community engagement of the Alpha-1 Foundation.

ALPHA LIFE

Jonathan’s

17

FRONTIERS

Irina Petrache:

“The motivation of research”

I

rina Petrache, MD, was born and because it blended well with the biology that I raised in Romania, where she also already knew about cell apoptosis and endothelial finished medical school. Her career cell injury. Thus, I became very excited about choice was driven by a combination of understanding how alpha-1 antitrypsin is curiosity about how the human body works, the anti-apoptotic; at that time this was a very new mechanisms that govern cell and tissue functions, finding and the mechanisms were not known. I and a desire to take care of ill people and alleviate truly enjoyed that process of discovery,” expresses their suffering.

Petrache.

“This combination of This project also allowed curiosity about science Petrache to learn about the Alpha-1 Foundation and its with an interest in being emphasis on funding high-risk, empathic and helping high-reward research and novel people led to my career ideas as well as new investigators choice,” Petrache explains. that were coming from outside Following medical school, the field into Alpha-1 research. she emigrated to the U.S., where she trained in internal “Ever since, I have stayed medicine in Cleveland, involved with the Alpha-1 Ohio, at Saint Lukes/ Foundation and I try to give Saint Vincent’s Charity back as much as possible because Medical Center. Following they played an important role in that, she became a fellow my career,” she asserts. in pulmonary critical care Following that initial project medicine at Johns Hopkins in which Petrache was University. She is now part co-investigator, she applied Irina Petrache, MD of National Jewish Health in for a 2004 American Thoracic Denver, Colorado, where she Society (ATS) Research Award. serves as a pulmonologist and chief of the Division That award would help transition her career of Pulmonary, Critical Care and Sleep Medicine. into an independent one. ATS and the Alpha-1 Petrache got involved with the Alpha-1 Foundation joined forces to co-sponsor the award Foundation in research on Alpha-1 Antitrypsin for Petrache.

Deficiency (Alpha-1) when she was a junior faculty “My laboratory investigates primarily the member at Johns Hopkins University. It was pathogenesis of emphysema and how the through her mentoring relationship with Rubin lung parenchyma involved in gas exchange Tuder, MD, that she discovered the importance gets damaged by cigarette smoking, and how of alpha-1 antitrypsin in lung biology. Petrache Alpha-1 Antitrypsin Deficiency compounds had joined Tuder’s research group as junior that damaging effect. I have also started several faculty with a background in vascular biology and projects that study ways to maintain cell vascular cell apoptosis. Tuder had just received survival in the lung and how alpha-1 antitrypsin a grant from the Foundation to study the role of modulates the immune system in the lung and alpha-1 antitrypsin in lung cell apoptosis, in the that knowledge may be applied to more than context of emphysema development. emphysema pathogenesis,” she says proudly.

In fact, those discoveries could help scientists “I was immediately attracted by this project

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1.877.2.CURE.A1 (228.7321)

understand applications of Alpha-1 therapy in an acute lung injury, cystic fibrosis, and lung transplant rejection. Thus, Petrache is excited about her research on alpha-1 antitrypsin because it can really be applied and have a wide impact on a variety of lung conditions and even systemic conditions characterized by vascular and immune injury.

Her work has also contributed directly to patient care, by helping her understand that she must think outside the box and more in-depth about the disease pathogenesis when she sees Alphas.

Her ability to bring science to the bedside has changed the way she approaches each case and cares for a patient.

“My work allowed me to be more involved in treating patients with Alpha-1,” she says. Prior to Petrache’s arrival at Indiana University there was no Alpha-1 dedicated clinic and she helped launch that, so that Alpha-1 patients in Indiana did not have to travel to other states to get their treatment.

“Here at National Jewish Health I am involved in an amazing team of physicians that see Alphas, contribute to enroll a large number of individuals with Alpha-1 to the registry and enroll patients in clinical trials on-site to provide our community with the latest advances of diagnostics and therapies. One of my goals is to bring the knowledge and the discovery that I am making in the laboratory to patients directly, contributing to new diagnostics and therapeutic development.

That is the dream of every physician scientist,” she mentions.

In addition to the study of Alpha-1 on apoptosis and immunity, she has also studied how alpha-1

antitrypsin travels across the blood vessels and tissues to reach the deepest parts of the lung. By understanding how alpha-1 antitrypsin gets to where it is needed the most, she hopes to design methods to improve that availability in those who have a problem trafficking it to the right place at the right time. That is another direct benefit to patients that Petrache is hoping to achieve in her lifetime.

“Seeing patients in clinic and realizing the urgency that our discoveries have on their life is one of the biggest motivators. Patients don’t have the 20 years or more that it traditionally takes to bring something from bench to bedside. The patients inspire more pragmatic and accelerated research, which can only be achieved by joining forces with colleague scientists and stakeholders such as Alphas and their families, funding agencies, pharma, and dedicated supporters, such as the Alpha-1 Foundation,” Petrache affirms.

www.alpha1.org

19

IN YOUR INTEREST

23 and

ME

A new source

of information on Alpha-1

A

new genetic testing company, 23andMe, is a direct-to-consumer (DTC) Personal Genome Service which has been reporting results for two genetic variants associated with Alpha-1 Antitrypsin Deficiency (Alpha-1) for a year and a half now. DTC means that consumers can order a DNA collection kit, have it sent directly to their home, and ancestry and health reports are delivered directly to the customer via a secured portal, without a doctor’s order.

Once the customer opts-in to view their genetic health risk reports, they can view details about their risk for lung or liver disease related to Alpha-1.

23andMe tests many genetic markers by analyzing DNA from a saliva sample and their reports can offer insight into a person’s ancestry, wellness, traits, carrier status, and genetic health risk for certain diseases.

In April 2017, 23andMe received authorization from the U.S. Food and Drug Administration

(FDA) to offer ten new health reports, including a report for Alpha-1. The Alpha-1 Foundation Research Registry at the Medical University of South Carolina has received calls from many people who have one or two Alpha-1 variants detected by 23andMe’s report. The unique thing about this group is that, for the most part, they did not take the 23andMe test to look for Alpha-1.

Unlike people who are tested by their doctors and people who test through the Alpha-1 Coded Testing (ACT) Study, most 23andMe customers are not testing because of symptoms or a family history and these results are usually a surprise.

Many 23andMe customers are simply curious to learn more about their genetics and are not looking for anything in particular. Many have never heard of Alpha-1 when they take the test, and some people test just for fun. All people have genomic variants, so most people don’t get completely negative 23andMe results. Variants are changes from the expected DNA sequence that make everyone unique, and contribute to our strengths and differences - and to risks for some health conditions. The Alpha-1 Foundation and the Alpha-1 community are excited about the 23andMe partnership for several reasons. We are prepared to be a resource for those who learn about their Alpha-1 status and guide them in the next steps of their journey. This also means that more people have broad access to genetic testing, which

“Once the customer opts-in to view their genetic health risk reports, they can view details about their risk for lung or liver disease related to Alpha-1 Antitrypsin Deficiency.”

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1.877.2.CURE.A1 (228.7321)

will start many people sooner on their Alpha-1 journey.

Finding people from the general population with Alpha-1 variants is promising for research and health outcomes. For example, this sort of testing allows better insight into how common Alpha-1 variants are in the population. Engaging this group in research will allow better understanding about chances to develop symptoms, or remain healthy, based on having Alpha-1 variants. These important questions are harder to answer when Alpha-1 testing is done in people who are already sick and their family members, as has been most common before.

“The Alpha-1 Foundation is working with 23andMe to ensure those customers who are at increased risk for Alpha-1 have the resources they need to make informed decisions around their healthcare and how to seek confirmatory testing.”

consumers. We are confident that early detection allows personalized medical care and improved outlook for those identified through 23andMe. 23andMe is not a specialty test for Alpha-1. As with any test it is important to know the capabilities and limitations. 23andMe only tests for the S and Z variants. There are also other variants (such as F, I, rare and null alleles) that contribute to Alpha-1 disease. People who need further Alpha-1 testing after 23andMe are invited to test through the Alpha-1 Coded Testing (ACT) Study, which is informative for 4 variants (S, Z, F and I) and provides an estimated Alpha-1 level. Those with symptoms or a family history of Alpha-1 should have a specialized test (such as ACT) but may be interested in 23andMe testing for other reasons.

While knowledge can be power, sometimes results bring confusion or negative emotions, or new information that you weren’t ready for. Speaking with a genetic counselor before and after testing can help.

A genetic counselor near you can be located at www.nsgc.org or contact the Alpha-1 Foundation’s Genetic Counselor at (800) 785-3177.

23andMe reports that more than 3% of customers with European ancestry have a Z variant, and more than 7% with European ancestry have an S variant. In African American customers more than 1% have a Z and 2% have an S. In Hispanics more than 2% have a Z and 9% have an S. This data shows that being a carrier is quite common – and that Alpha-1 is not just a “Caucasian disease.”

The Alpha-1 Foundation is working with 23andMe to ensure those customers who are at increased risk for Alpha-1 Antitrypsin Deficiency have the resources they need to make informed decisions around their healthcare, the wellness of their family and how to seek confirmatory testing.

We hope all DTC testing companies will take note and engage with rare disease groups like the Alpha-1 Foundation, to empower and educate

www.alpha1.org

21

ALPHA LIFE

Steve Petty: I live a very

rewarding life

S

tephen R. Petty (Steve) lives in Colchester, Connecticut, with his wife Faithe. They have two children and five grandchildren. They have been married for a little over 50 years and they live a wonderful life.

Steve is an Alpha, Faithe is not. For him, this is how it all started: by his mid 30s, he began seeing pulmonologists and he was diagnosed with asthma, chronic bronchitis and post-nasal drip. He was prescribed many inhalers and medications over the years, but his condition kept worsening due to a misdiagnosis that went on for about 25 years.

By his late 50s, Steve went to a new pulmonologist who suggested a new test for him: Alpha-1. “What is that?” He remembers asking himself, and even though he did not know what those words meant, he agreed to the test. When the results came in, it was confirmed that Steve was affected by this condition that he had never heard of before: Alpha-1 Antitrypsin Deficiency (Alpha-1). He was also diagnosed with emphysema. It was the fall of 2005.

Steve started treatment right away and has been on augmentation therapy ever since. His condition has remained stable and his health too. He started getting involved in the Alpha-1 community, something that Steve confirms has changed his life, for the better.

A few years went by and while going to the Connecticut Support Group, Steve received an offer to take over the group since the support group leader was moving. Steve accepted and led the group for about three years, when a new opportunity knocked on his door: AlphaNet. He received an email with a job opening, applied for

Steve R. Petty

the position and got the job. By 2014, Steve became an AlphaNet coordinator.

“This is a very positive community. When you talk to people, go to a support group or an education day, you realize that people are very positive. The Alpha-1 community is very positive,” said Steve with a smile.

He has attended five National Education Conferences and has had the opportunity to learn more about Alpha-1 each and every day, whether by interacting with the community or attending a training session.

“A lot of times you think you know a lot but every time you go, you learn something new.”

For Steve, the best part of his role as an AlphaNet coordinator is interacting with his people: “Dealing with my subscribers is what I enjoy the most. Not only do I hopefully affect their lives, but they affect my life too. I give them support and information, and it comes back to me. You really get to know these folks. There is nothing nicer than getting a phone call from the wife of one of my subscribers, wishing me happy anniversary.”

“As an AlphaNet coordinator, you interact with your people and learn about each other’s families and their conditions, as well as where they are in their lives. It’s a very rewarding job, no question about it,” he finished.

Steve encourages all Alphas to get involved, to never stop looking forward and to live their lives to the fullest. He also recommends the Alpha-1 Foundation website for all things Alpha-1, at www.alpha1.org, and the official website of AlphaNet, where you can learn about the network of coordinators and more, at www.alphanet.org.

22

1.877.2.CURE.A1 (228.7321)

Explore, Engage, and Experience the Alpha-1 Community that CareZ

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Important Safety Information ZemairaÂŽ is indicated to raise the plasma level of alpha1-proteinase inhibitor (A1-PI) in patients with A1-PI deficiency and related emphysema. The effect of this raised level on the frequency of pulmonary exacerbations and the progression of emphysema have not been established in clinical trials.

Zemaira may not be suitable for everyone; for example, people with known hypersensitivity to components used to make Zemaira, those with a history of anaphylaxis or severe systemic response to A1-PI products, and those with certain IgA deficiencies. If you think any of these may apply to you, ask your doctor.

Early signs of hypersensitivity reactions to Zemaira include hives, rash, tightness of the chest, unusual breathing difficulty, wheezing, and feeling faint. Immediately discontinue use and consult with physician if such symptoms occur.

In clinical studies, the following adverse reactions were reported in at least 5% of subjects receiving Zemaira: headache, sinusitis, upper respiratory infection, bronchitis, fatigue, increased cough, fever, injection-site bleeding, nasal symptoms, sore throat, and swelled blood vessels.

Because Zemaira is made from human blood, the risk of transmitting infectious agents, including viruses and, theoretically, the Creutzfeldt-Jakob disease (CJD) agent, cannot be completely eliminated.

Please see brief summary of prescribing information for Zemaira below.

You are encouraged to report negative side effects of prescription drugs to the FDA. Visit www.fda.gov/medwatch, or call 1-800-FDA-1088.

Based on September 2015 revision.

You are encouraged to report negative side effects of prescription drugs to the FDA. Visit www.fda.gov/medwatch or call 1-800-FDA-1088.

Support Alpha-1?

ALL IN A DAY’S WORK!

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There are many ways to get involved in workplace giving. :LL OV^ `V\ JHU NL[ PU]VS]LK •

United Way participants only need to write “Alpha-1 • Foundation” on the line for “other” designees on the payroll deduction form.

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Combined Federal Campaign (CFC) participants must specify our code 11717 to select the Alpha-1 Foundation.

This includes postal workers, court employees, military, FBI, DEA, and IRS.

•

•

Many companies offer incentives to employees who volunteer to support the Alpha-1 Foundation. Some programs offer time off to volunteer or make contributions to reward your volunteer activities.

Don’t forget to invite your friends and family who work for companies that participate in United Way or who are federal employees to participate in workplace giving for the Alpha-1 Foundation.

Hundreds of companies offer a matching gift program, which can double, or in some cases triple, your contribution to the Alpha-1 Foundation.

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Thank you for your support. Every dollar makes a difference.

Visit alpha1.org/donate for more information. If you have any questions, please contact Linda Rodriguez at 877-228-7321 ext 237 or lrodriguez@alpha1.org.

ALPHA-1 KIDS 26

Growing & learning with Alpha-1 N

ora and Mark Kemmerer live in Omaha, Nebraska and have two children together: three-year-old Liam and baby Quinn, who just had her first birthday in August. Mark also has three older kids, Alec, Trey and Riley. For them, life showed a new plan when Quinn was born, in 2017, because she was diagnosed with Alpha-1 Antitrypsin Deficiency (Alpha-1) just two weeks after birth.

Quinn was jaundice at birth, but her bilirubin Quinn Kemmerer levels improved after doing phototherapy, a special light treatment with a lamp called a bili-light, for newborn jaundice. After two in their minds: “Are we also Alphas? Do Mark’s weeks of extensive testing with no answers, her older children also have it? What about our pediatrician decided to check with a pediatric parents?” So, while attending regular visits to the liver specialist at Children’s Hospital and Medical doctor’s office for Quinn’s check-ups, they both Center of Omaha, since her liver enzymes kept decided to get tested. When the results came rising, something that was particularly unusual. back, they found out that they are both carriers and so is Liam, Quinn’s older brother. The three The liver specialist, who was also puzzled at all of the bloodwork that had already been done, did more of them are MZ carriers. lab work and performed an extra test: Alpha-1.

“Her pediatrician gave us the Alpha-1 This time, the result was positive.

Foundation website, www.alpha1.org, which is what we have been using throughout this year to Quinn’s diagnosis caught them off-guard. learn as much as we can about Alpha-1. I think Their newborn daughter had been diagnosed with it was confusing to us also because Quinn something they had never heard before. They both seemed so happy and you would never felt scared and alone and had a new set of words know that something was going on with added to their day-to-day vocabulary: Alpha-1 her,” said Nora.

Antitrypsin Deficiency. However, those feelings, along with their lives, were about to change.

“Other than the jaundice at birth there was no other signs that there was anything wrong, Nora and Mark started to research about this whatsoever,” new condition that Quinn was diagnosed “We learned a lot at National Conference confirmed Mark. with, and as they and we feel so much more comfortable By the end of this gathered information summer, they were about everything now. We really know and learned more in the process of about Alpha-1, more what to look for now.” getting the rest of questions appeared

1.877.2.CURE.A1 (228.7321)

the family tested for Alpha-1: Alec, Trey, Riley, and Nora and Mark’s parents.

Quinn is a happy baby, and she has been learning, growing and hitting her milestones. She is now an official crawler and loves to nap and play with her brother. She is very cooperative with her visits to the doctor’s office, which were every month at first, now every six months.

When Nora and Mark found out about the 27th Annual National Education Conference, in San Francisco, they knew they had to attend. They searched for assistance and received a scholarship to travel to the conference, from the Alpha-1 Kids Program by the Alpha-1 Foundation, which supports, guides and offers resources to families with kids diagnosed with the condition.

“I think we did not know what to expect from the National Conference. It was overwhelming at first, but then when we got to talk to people we realized that they were very welcoming, positive and friendly,” said Nora. “I don’t think I met anybody at National Conference that was not nice.

Everybody wanted to know who we were there for when they saw our caregiver badges; they wanted to know more about Quinn and how she was doing. It really felt like a family,” she continued.

“The National Conference was great. It was extremely informative, and I was amazed on how welcoming everybody was; honestly and for my state of mind, the conference made me feel a lot better about the future for Quinn,” said Mark.

Mark, Quinn and Nora

Both Nora and Mark advise other parents to get as much information as possible about Alpha-1, “it is a lot less scary when you know more” she expressed. They also recommend living every day one at a time, staying positive and knowing that your doctors are looking out for you. Also, the Kemmerer family supports research and said that it is important for both Alphas and carriers to get involved towards finding a cure for Alpha-1: “I think it is very important for us MZs, and also for Quinn, to be available for testing and research for the cure,” said Mark.“We want to thank the Foundation for this opportunity; we are so grateful for the fact that we are not alone in this journey,” finished Nora.

The Kemmerer Family (left to right): Alec, Trey, (holding) Liam, Quinn, Nora, Riley and Mark

www.alpha1.org

27

ALPHA LIFE

DC YOUNG: “This is the way you get to play the game”

F

or DC Young, it all started with his father, back in the early 2000s. While living in Germany, Young received a call from his brother Wayne because their dad was not doing well at the time. He had been on oxygen for 25 years and his health was declining, so he flew half way around the world to be home with him.

During that time, Young’s brother was also using oxygen and not feeling well either. He called DC to let him know that he was seeking permission to gain access to their father’s medical records, and hopefully find the reason why he was also having such health issues.

So, after doing the proper paperwork, Young’s dad provided his signature to grant access to his medical records.

Right after that, Young’s father DC Young passed. It was the year 2001, and it happened in his town of Monticello, in Utah.

While medical records show their father was never diagnosed with Alpha-1 Antitrypsin Deficiency (Alpha-1), when Wayne’s doctor tested him, Wayne discovered he was a ZZ Alpha.

That same year, DC Young relocated to the U.S. Immediately, he took his brother’s advice to be

28

Family testing and advocacy are both key factors in Alpha-1 Antitrypsin Deficiency (Alpha-1).

tested for Alpha-1, but when he brought it up to his doctor, in January 2002, the doctor did not know what Alpha-1 was. However, after doing some research, his doctor did a serum test to find out that Young’s alpha-1 antitrypsin serum level was very low, so he suggested a pulmonologist.

A few months later, Young was seen by a pulmonologist, who wanted to do a spirometry test. He also rejected Young’s request, several times, to be tested for Alpha-1: “You could not possibly have that. You were a smoker, and your problem is that you were a smoker. I will prove it to you with the spirometry test.”

Young, however, was DC’s father, Darroll Young never a smoker.

After seeing Young’s determination, he agreed to perform the test only to find out that his patient, DC Young, had Alpha-1.

“What are we going to do about it?” asked Young; “nothing, you are too healthy” was the response he received from his pulmonologist. He was not satisfied. He was convinced that he needed treatment, so he found a new pulmonologist.

In the meantime, Young was doing his own research about Alpha-1 and he found out about the Alpha-1 Association, which held an Annual 1.877.2.CURE.A1 (228.7321)

National Education Conference. It was Liz Veronda, AlphaNet coordinator, who convinced him to attend his first National Conference, in Chicago in 2003, where he met Cathey Horsak, current director of community programs of the Alpha-1 Foundation, and Robert Sandhaus, MD, PhD, DC and Wayne Young clinical director of the Foundation and medical director of AlphaNet. “You need to be in charge of your own well-being. You are the best advocate for your health, and if anybody is going to be in charge of your health, it needs to be you. You need to go back to your doctor and ask him to explain why you can’t get treatment, because you are losing lung function as we speak,” said Sandhaus to Young, a piece of advice that he took very seriously.

Every time Young had a spirometry test, his lung function was lower. He was losing about 1% of his breathing capability every month, but even his new pulmonologist would not approve treatment.

Young confronted him: “I want to know how bad my lungs have to be before you can authorize me to get augmentation therapy.” “Why do you want to know that?” replied his doctor.

“Your x-rays show that your lungs are clear. You don’t have any divots or any holes like smokers or people with bad Alpha-1 have. The only thing we can do now is a CT Scan,” explained the doctor. Young agreed.

It was immediately after his first CT Scan that his doctor agreed and authorize treatment for Young: “You don’t have any holes but the whole matrix of your lungs is affected, and your lungs look like lace,” explained the doctor. “You are not getting enough oxygen through your lungs because they have started to stiffen up and the x-ray would never show this” he added.

So, in January 2004 after knowing he had lung issues, finding out his brother was a ZZ Alpha, his father was on oxygen for 25 years, and after several tests, DC Young was authorized to receive augmentation therapy. It does not cure Alpha-1, but it prevents lungs from worsening, due

www.alpha1.org

to the condition. He has been on this therapy for 14 years now, and his lung function has stayed stable, thanks to the treatment.

“God was not punishing me because I had Alpha-1 Antitrypsin Deficiency. This is the way you get to play the game of life. Having Alpha-1 is just one of the cards that I was dealt,” Young said.

Alpha-1 is a genetic (inherited) condition, which means it runs in the family. The It’s all in the Family program, by the Foundation, was designed to help Alphas and Alpha-1 carriers tell their families about Alpha-1. Family testing for Alpha-1 could improve the lives and health of loved ones. If you have Alpha-1, or are an Alpha-1 carrier, we suggest that your relatives be tested.

DC with his wife and support group co-leader, Claudia

DC Young is currently the leader of the Utah Alpha-1 Support Group and his wife and caregiver, Claudia, is the co-leader. He has been involved in the Alpha-1 community since his diagnosis. He attended his first National Conference, in 2003, including three visits to Washington, DC to advocate for the needs of Alphas, nationwide, and recently met with U.S. Congressman Chris Stewart, regarding the Congressional COPD Caucus.

“I think that we all need to be advocates. If we want quality of life we have to work to get it and keep it. That takes effort and it takes involvement. One thing that John W. Walsh taught me is that if you don’t put effort into things, you’re not going to get anything out of them,” finished Young.

29

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Oct. 18 Oct. 19 Oct. 20

Oct. 25

Oct. 27

Nov. 2 Nov. 3

Nov. 4 Nov. 10

Nov. 11

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Nov. 14 Nov. 15

Norfolk, VA Norfolk, VA Alpha-1 Connection Oklahoma City, OK Alpha Okies SG Pueblo, CO Southern Colorado Alphas Needham, MA Massachusetts Alphas Benton, AR Arkansas Alphas South Bend, IN Northern Indiana Alphas Rockford, IL Alphas of Northern Illinois Albany, NY Capital Region Alphas Columbus, OH Buckeye Alphas Santa Monica, CA Los Angeles Alphas Las Vegas, NV Las Vegas Alphas Naples, FL Alpha-1 Naples Terra Haute, IN Illiana Alphas Sarasota, FL FL Gulf Coast Alphas Tucson, AZ Old Pueblo Alphas Alpharetta, GA Central Georgia Alphas South Jordan, UT Utah Alphas Oceanside, CA San Diego Alphas Joplin, MO Southwest Missouri Alphas Warner Robins, GA Heart of Georgia Alphas Gainesville, FL Gainesville, FL Alphas King of Prussia, PA Alpha Opportunities Richmond, VA Virginia Alpha-1 Connection Bakersfield, CA O2 Seekers of Bakersfield, CA Toledo, OH Glass City Toledo Alphas Dyer, IN Northwest Indiana Alphas Peoria, IL Open Arms for Alpha-1 SG Houston, TX Bayou City Alphas Shepherdsville, KY Kentucky Alphas Lutz, FL Tampa FL Alphas Meridian, ID Idaho Alphas Mandeville, LA Southeast Louisiana Alphas Portland, OR Oregon Alphas Scottsdale, AZ Alphazonies Edina, MN Twin Cities Alphas

For more information about Support Group Meetings, contact Barbee Bennington, (877) 228-7321, ext. 227 or bbennington@alpha1.org.

BUILDING FRIENDS FOR A CURE EVENTS

2018

Sept. 28 - 30 Team Alpha-1 Escape To The Cape Sept. 29 Twin Cities Walk Oct. 6 Step Forward For Alpha-1 Walk Oct. 13 50’s Friends For A Cure Dance Oct.20 Los Angeles Alpha-1 Walk Oct. 20 Strickly Alphas- Riverwalk November Virtual Walk 2018 Nov. 3 San Diego Alpha-1 Walk 2019 Feb. 15 Friends For A Cure, 80’ Dance Party Mar. Celtic Connection ALPHA-1 EDUCATION DAYS Sept. 22 Detroit, MI

Cape Cod, MA Minneapolis, MN Mishawaka, IN Shoemakersville, PA Los Angeles, CA Portsmouth, OH USA San Diego, CA

amcbride@alpha1.org Eric.Hoglund@ghd.com cladig@alphanet.org alfalfaalphagroup@gmail.com alpha91307@hotmail.com mdissinger@columbus.rr.com amcbride@alpha1.org amerkens@gmail.com

Jacksonville, FL Boston, MA

Sarah_shirk@comcast.net bobhealy125@msn.com

Oct. 20

Seattle, WA

2018-2019 CALENDAR

SUPPORT GROUP MEETINGS Sept. 10 Kennewick, WA South Central Washington Alphas Sept. 13 Wheelersburg, OH Strickly Alphas Sept. 15 Augusta, ME Alpha Mainers

Monroeville, PA AlphaBurgherZ

Indianapolis, IN Hoosier Alphas

St. George, UT Utah Alphas

New Britain, CT CT Nutmeggers

Lutz, FL Tampa, FL Alphas

Birmingham, AL Alabama Alphas

Orange County, CA Los Angeles Alphas

Shepherdsville, KY Kentucky Alphas

Naples, FL Alpha-1 Naples

Miami Shores, FL Alpha Gators Sept. 18 Moore, OK Alpha Okies SG Sept. 19 Albany, NY Capital Region Alphas Sept. 22 Toledo, OH Glass City - Toledo Alphas

Liberty, NY Hudson Valley Alphas

Orlando, FL Alphas Central of Florida Sept. 25 Portland, OR Oregon Alphas Sept. 29 Minneapolis, MN Twin Cities Alphas

Princeton, WV West Virginia Better Together Alphas Oct. 2 Big Papillion NE Big Red Alphas Oct. 6 Roseville, CA Sacramento Alphas

Palm Desert, CA SoCal Roadrunners

Sioux Falls, SD Dakotaland Alphas

Pleasant Hill, CA San Francisco Bay Area Alphas

Covington, LA Southeast Louisiana Alphas Oct. 8 Meridian, ID Idaho Alphas Oct. 9 Fayetteville, AR Northwest Arkansas Alphas Oct. 10 Scottsdale, AZ Alphazonies

New York, NJ NY/NJ Alphas Oct. 11 Milwaukee, WI Milwaukee Alphas Oct. 13 Casper, WY Casper Alphas

Wood Dale, IL Chicagoland Alphas

Lutz, FL Tampa FL Alphas

For more information about Education Days contact Kim Caraballo, (877) 228-7321, ext. 323 or ycaraballo@alpha1.org.

Please visit the calendar at alpha1.org for more information on these support group meetings and other upcoming events. www.alpha1.org

31

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Alpha-1 research studies enrolling The best way to learn about studies you might qualify for is to join the Alpha-1 Research Registry.

Here is a list of studies now enrolling volunteers:

ADVM-043 Gene Therapy Study Investigational gene therapy treatment study for ZZ and Z/Null Alphas over the age of 18. Participation lasts 15 months and multiple sites are recruiting. Visit https://clinicaltrials.gov/ct2/show/NCT02168686 for more information.

Alpha-1 Carbamazepine Study Study for ZZ or SZ Alphas between 14-80 years old with severe liver disease to test if the drug carbamazepine improves liver disease. Visit https://clinicaltrials.gov/ct2/ show/NCT01379469 for more information.

Alpha-1 Foundation Liver Study Study for Adult ZZ Alphas to determine the causes and progression of liver disease. “Known Severe Liver Disease” and “Post-Transplant” groups still enrolling. (Liver Biopsy groups ended enrollment). Visit https://clinicaltrials.gov/ ct2/show/NCT02014415 for more information.

ARALAST NP and GLASSIA Study Five arm (including placebo) augmentation therapy study for adult ZZ, Z/Null, Malton/Z, Null/Null, or other rare genotypes with COPD. The study duration is 26 months.

Multiple sites in USA, Australia, and Canada recruiting.

Visit https://clinicaltrials.gov/ct2/show/NCT02722304 for more information.

COPD Exacerbation Study Columbia University (NY) study for adults aged 35-80 with Alpha-1 Antitrypsin Deficiency or Alpha-1 carrier state AND physician diagnosed COPD. For more information about this study, call 877-886-2383.

GLASSIA Study Augmentation therapy study for severely deficient Alphas.

Multiple sites recruiting. The study duration is 6 months.

Visit https://clinicaltrials.gov/ct2/show/NCT02525861 for more information.

Hyaluronic Acid Inhalation Study Inhaled therapy study for severely deficient Alphas diagnosed with Emphysema. Multiple sites recruiting.

Visit https://clinicaltrials.gov/ct2/show/NCT03114020 for more information.

Lung Imaging Study Columbia University (NY) study for adults aged 45-80 with Alpha-1 Antitrypsin Deficiency or Alpha-1 carrier state withOR without COPD. Visit https://clinicaltrials.gov/ct2/ show/NCT02978144 for more information.

SPARTA Study Augmentation therapy study for severely deficient Alphas.

Multiple sites recruiting. The study duration is 3 years.

Visit https://clinicaltrials.gov/ct2/show/study/ NCT01983241 for more information.

For more information about these studies or to enroll in the Alpha-1 Research Registry, call 877-886-2383 or visit alphaoneregistry.org