Alpha-1-To-One Magazine - Winter 2017

Vol. 15, No. 3 • WINTER 2017

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A MAGAZINE OF THE ALPHA-1 FOUNDATION

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

pertinent news for people touched by ALPHA-1

Pulmonary Trailblazer PAGE 4

Removing Barriers

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College-bound Alphas

PAGE 14

Mom Takes Action

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FOCUS ON THE FOUNDATION

Laying strong foundations and looking to new horizons s 2017 comes to a close, we reflect on all that has been accomplished by the Alpha-1 community, and we look back to some of those who have laid the foundation for the progress we have experienced this past year. We are looking forward to a new year filled with hope and opportunity for Alpha-1researchers and advocates.

This issue of Alpha-1-To-One features Gerard M. Turino, MD. Known as a “tireless master clinician,” Turino paved the way for thousands of pulmonologists. From published papers in medical journals to many scientific achievements, the renowned researcher plans to continue his career and leave a lasting legacy with his latest scientific venture. (See Gerard Turino, MD, the pulmonary trailblazer, page 4) The Alpha-1 Project (TAP) is prepared to overcome the many barriers that come with therapy development. With investments made in nine companies with potential Alpha-1 therapies, and working closely with Alpha-1 investigators, TAP strives to bridge the gap between development, clinical trials and the launch of new therapies for Alpha-1. (See Removing the barriers, page 7) We wouldn’t move forward if it were not for YOUR voice. It matters and it does make a difference. Thanks to your responses, we are able to better address issues with supplemental oxygen access. We’ve made it easier for you to be heard by improving the Alpha-1 Action Center. This gives the community the ability to message their state representatives easily. (See The seeds have been planted, page 23) We’re just a few people away from reaching 6,000 participants in the Alpha-1 Research Registry. The Registry is a confidential database made up of people diagnosed with Alpha-1 or identified as Alpha-1 carriers. (See Become the 6,000th member, page 12) Many Alphas believe they are members of the Alpha-1 Research Registry – and they are mistaken. It’s easy to check. Call the Registry toll free at (877) 886-2383. They’ll answer any questions you have about participating in research. You can join the Alpha-1 Research Registry online at alphaoneregistry.org This is the season for our Annual Appeal, a vital way we raise the funds for research and all our programs that serve the community. (See ad on page 19) For information about organizing a fundraising event to benefit Alpha-1 research and related programs, contact Angela McBride at 1 (877) 228- 7321, Ext. 233, or amcbride@alpha1.org. To learn more about methods of giving, or to make an online donation, visit alpha1.org/donate We wish you and your loved ones a happy holiday season and a new year of health, happiness and prosperity.

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ALPHA- -TO-ONE Practical advice, personal experiences and pertinent news for people touched by Alpha-1 VOL. 15, NO. 3 Published by the Alpha-1 Foundation 3300 Ponce de Leon Blvd.

Coral Gables, FL 33134 1.877.2.CURE.A1 (228.7321) www.alpha1.org Alpha-1 Foundation Board of Directors Executive Committee Gordon Cadwgan, PhD*, Chair James Quill*, Vice-Chair Elizabeth Johnson*, Secretary Jeanine D’Armiento, MD, PhD, Treasurer Martin R. Zamora, MD, Scientific Advisor Ab Rees*, Immediate Past Chair Members Virginia Clark, MD Sandra Douglas + 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* Dell Witcher* Editorial Board William J. Martin II, MD Jane M. Martin, BA, CRT Bruce C. Trapnell, MD Henry Moehring* Jen Childress + Ab Rees* Executive Editor Marcia F. Ritchie Managing Editor Karen Erickson Contributing Editors Alexis Artiles Roberto Balderas, MPH Barbee Bennington Maria Virginia Deliz Cathey Horsak Marelis Requejado Linda Rodriguez Robert A. Sandhaus, MD, PhD, FCCP Contributors Teresa Barnes Jen Childress Angela Merkens Charlie Strange, MD Eryn Varano Advertising If you are interested in advertising, please contact Karen Erickson at 877-228-7321 ext. 214.

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

Letters to the Editor. ALPHA-1-TO-ONE would like to hear from you.

Please send letters to the editor at the Foundation or e-mail us at editor@alpha1.org. Letters may be edited for clarity and length.

1 ALPHA-1 FOUNDATION 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 Alpha-1 Antitrypsin Deficient + Diagnosed Family Member

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Vol. 15, No. 3 • WINTER 2017

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A MAGAZINE OF THE ALPHA-1 FOUNDATION

Inside ALPHA- -TO-ONE Features

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SPOTLIGHT The pulmonary trailblazer Gerard M. Turino, MD, continues to contribute to pulmonary research

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ALPHA LIFE Help getting to college The Foundation awards scholarships for higher education Remembering Alphas The Foundation remembers three exceptional Alphas You are what you breathe AlphaNet coordinator Terri Leffler’s life-changing move

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IN YOUR INTEREST The seeds have been planted Your voice matters and it made a difference in more ways than one

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FRONTIERS The Alpha-1 Project is removing the barriers The Alpha-1 Project is skilled in recognizing opportunities to move science forward The Research Registry is reaching a milestone On its 20th anniversary year, the registry will reach 6,000 members Alpha-1 studies now enrolling A list of current research studies

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ALPHA-1 KIDS Alpha mom takes action Jen Childress coaches teen daughters on good life decisions

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SUPPORT GROUP UPDATE A passion for raising awareness A support group leader’s dedication & commitment

Have you seen an Alpha-1 Specialist?

Finding a doctor who is knowledgeable about Alpha-1 can be a challenge sometimes. That’s why the Alpha-1 Foundation is offering a travel stipend to help Alphas around the country to visit a Clinical Resource Center.

Learn more: alpha1.org/CRC-Visit-Help

fb.com/alpha1foundation www.alpha1.org

@AlphaFriend

@alpha1foundation

@Alpha-1FDN 3

SPOTLIGHT 4

Gerard M. Turino, MD the pulmonary trailblazer erard M. Turino, MD, is a member of the Columbia University College of Physicians and Surgeons Class of 1948.

Some 69 years later, he still represents his distinguished class, not as a retired alumnus, but as a busy clinician-researcher.

Turino is, no doubt, one of the few members in his generation who not only still has an active career in research and medicine, but is also still at the forefront of science with papers published in peer-reviewed medical journals as recently as earlier this year. He also maintains a busy domestic and international travel schedule that includes the world’s preeminent pulmonary meetings while directing a major pulmonary center.

One of Turino’s recent major scientific achievements has been his identification of a biomarker of lung destruction through the development of an assay that can quantify the amino acids desmosine and isodesmosine in blood, sputum and urine.

Turino is renowned for his work in Alpha-1 Antitrypsin Deficiency (Alpha-1), Emphysema and COPD, but it is his latest endeavor that may be his lasting legacy. In fact, his next major scientific contribution may come in the area of an inhaled polymer: nebulized hyaluronan, also known as hyaluronic acid (HA), a naturally occurring polymer.

The idea isn’t new to Turino as he published an article including hyaluronan in 2002 in the medical journal, CHEST, stating: “the stage is set for the development of synthetic inhibitors to counteract the effects of neutrophil elastases, as well as new aerosol agents of human alpha-1-antitrypsin or recombinantly produced forms, and matrix components such as hyaluronan to protect the pulmonary matrix, specifically lung elastin, from the degradative effect of neutrophil and macrophage elastases.”

Turino established a new company to investigate the potential for hyaluronan as a therapeutic in COPD that could allow for treatment in the earliest phases of disease. Since the polymer is used for

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other medical indications, such as in orthopedics, repurposing existing therapies is not always an attractive target for biotechnology companies.

After spending years working to encourage the creation of clinical trials for hyaluronan’s use in Alpha-1 and COPD, Turino decided to do it himself.

Currently in the midst of such a clinical trial, his company, MatRx Gerard M. Turino, MD Therapeutics, is hoping to be able to demonstrate efficacy of inhaled hyaluronan on COPD and Alpha-1.

Thanks to the company’s clinical trial and his other duties, Turino says retirement is not yet in his plans.

“I’ve got to see the clinical trial completed, and I have to see what the next steps will be,” he said.

A history of success “From the beginning of my [medical] career, I began to publish as a fellow when I got out of the service in 1953,” said Turino who served in the U.S. Air Force in Korea.

Early on, Turino was exposed to the minds and work of André Frédéric Cournand, Werner Forssmann and Dickinson W. Richards who jointly were awarded the Nobel Prize in 1956 for their work in heart catheterization. “It was a very important tool for research and physiology of the heart and lung,” Turino said, “they were being viewed together in those days.”

1.877.2.CURE.A1 (228.7321)

Turino later made a decision to focus on pulmonology, as the pulmonary and cardiac branches began to separate as distinct scientific specialties. At the time, “nobody knew the mechanisms that caused COPD,” Turino said. “Then, all of a sudden in 1963, Laurell and Eriksson discovered Alpha-1 Antitrypsin Deficiency and its relationship to familial (genetic) emphysema.”

That seminal work which first described the genetic underpinnings of Alpha-1 influenced Turino further to continue the work he had been doing in the disease area.

Turino was also intrigued by the work of Aaron Janoff, MD, at nearby Stony Brook University, who discovered that the human neutrophil contained a potent elastase that could destroy lung tissue in animal models of emphysema.

Turino described Janoff’s discovery as a major step. “I was working in the field. It transformed research and gave rise to our protease, antiprotease imbalance hypothesis. Turino soon after published a paper that showed the elastin content was low in non-Alpha-1 COPD lungs.

Meanwhile, Turino joined St. Luke’s Roosevelt in 1983 as the first chairman of the newly merged St. Luke’s Roosevelt Hospital Department of Medicine from Columbia University College of Physicians & Surgeons where he was a professor of medicine.

In 1987-88, as Turino’s career continued to heat up, he served as president of the American Thoracic Society (ATS), the world’s largest group Andrew Wilson, MD and of professional Turino at the Celtic Connection pulmonary in Boston, Mass researchers.

Later, Turino worked on a project with biochemist Ines Mandl, PhD, focusing on elastin that led to their identification of a biomarker involved in elastin degradation.

He directed a project with chemists Shuren Ma, PhD, and Yong Y. Lin, PhD, in which they developed a method that introduced tandem mass spectrometry and liquid chromatography. The method led to “greater credence of the biomarker,” according to Turino. Today, the method can be used in sputum and via bronchoalveolar lavage (BAL) procedures. www.alpha1.org

Turino with longtime friend and co-founder of the Alpha-1 Foundation, John W. Walsh

In 1998, Turino gained the financial support of his hospital, St. Luke Roosevelt, to develop a new lung center. Named for a patient who died of Alpha-1 in his 40s, James P. Mara, Turino was the founding director and has acted as director of the center since its inception. “They [the Carson Family Foundation] have supported us right through the last 17 years. They are still supporting me for one more year.”

His lab was able to make the measurement in the lung to show that augmentation therapy blocked elastin degradation; that measurement was included in the RAPID study by CSL Behring and became a way of measuring lung destruction and showed it was reduced in patients getting augmentation therapy. “We knew we had a more sensitive and accurate method for making the measurement, so [CSL Behring] asked us to use the biomarker [in their RAPID study],” Turino said.

That biomarker has now become an important tool for finding therapeutic effect, according to Turino.

“It is useful for new drugs being developed,” he said.

In 2000, Turino co-founded CoTherix with pulmonary pathologist Jerome Cantor, MD. The company was sold to Actelion in 2006, two years after the company’s inhaled drug, Ventavis, was approved by the U.S. Food & Drug Administration for pulmonary arterial hypertension.

Proximity and luck Turino says though his achievements have been the result of determination and focus, something else helped him, too.

His modesty shows as he describes part of the reason for his success. Turino believes some of it has had to do with the close proximity of quality 5

SPOTLIGHT

research efforts and the multi-disciplinary scientists who lead them in New York.

Jean-Marc Quach, Fred Walsh and Turino at the 2017 George Washington Bridge Walk in New Jersey

“I was lucky with my work at Columbia University Department of Medicine. I was a young faculty on a 10-year track. I was also there where there were clinical services and basic science research almost right in the same area. Collaborations could come together and develop in an environment like that.”

Turino has won a long list of prestigious awards including the American Thoracic Society’s 2013 Breathing for Life Award and the society’s most coveted Edward Livingston Trudeau Medal in 2003. He also delivered the James Burns Amberson Lecture in 1985. Just recently, Turino received the first John W. Walsh Visionary Award by the COPD Foundation and in 2010 received its Research Achievement Award. He has served as president of the ATS and the New York Heart Association and is the founding chairman of the COPD Foundation.

In 2014, Turino was honored with the Shillelagh Award given at Celtic Connection, the largest gathering of Alphas and their families in the Northeast. He has also served on various committees with the Alpha-1 Foundation, the Medical and Scientific Advisory Committee, Grants Advisory Committee, Clinical Resource Center Working Group, Research Registry Advisory Committee and the Alpha-1 Community Advisory Committee.

“A grand ol’ man in pulmonary” “I have known Gerry since 1971,” said Robert Sandhaus, MD, PhD. “He was a senior scientist and a leader in the pulmonary world. He hadn’t yet been president of the ATS,” Sandhaus said describing the career of his longtime friend and colleague. “He was already what I would have called a ‘grand ol’ man in pulmonary.’”

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As Sandhaus was presenting his PhD dissertation, he recalled Turino as a renowned researcher, even then.

“He was known as a tireless master clinician. We call him the energizer bunny to this day,” Sandhaus said.

Sandhaus says among Turino’s significant accomplishments is his discovery of the quantitation of desmosine and isodesmosine in Alpha-1 and COPD was a game changer. “It was a breakthrough and he single-handedly brought it forward,” Sandhaus said.

Sandhaus also credits Turino with the successes of the pulmonary researchers who have trained with him over the decades. “He has probably affected hundreds, if not thousands of pulmonologists’ careers. The wake of achievements that have been left by Gerry and those he has trained and inspired is amazing. From his students to his colleagues, almost everyone has been touched by Gerry if they work in Alpha-1 and COPD.” Sandhaus says it is an understatement to say Turino is driven and not likely to let up any time soon.

“He feels he has a lot more to contribute and that, in itself, is a reason not to stop.”

Walking the walk for Alphas

Left to right, Turino with his colleagues Robert Sandhaus, Lori Tartell and Alpha Joe Reidy Turino has not only been a leader for the clinical and research community; he has also been a leader for our patients. Each year he and Alpha Joe Reidy host the George Washington Bridge Walk, an event benefitting the Alpha-1 Foundation. Alpha-1 patients, friends and family put on their walking shoes and gathered in Fort Lee, N.J., where one of New York City’s most storied bridges crosses the Hudson River. Though inclement weather kept them from completing this year’s walk, they celebrated its 10th anniversary with good food, stories and camaraderie.

1.877.2.CURE.A1 (228.7321)

The Alpha-1 Project is moving Alpha-1 science forward inding new therapies and ultimately a cure for Alpha-1 Antitrypsin Deficiency (Alpha-1) is the mission, and with over 50 organizations looking to do just that, it seems the efforts to make Alpha-1 a research target have been successful.

The Alpha-1 Project (TAP), a for-profit, whollyowned subsidiary of the Alpha-1 Foundation, is managed by long time Alpha-1 advocate and healthcare management senior executive Jean-Marc Quach and was backed by a generous donation to the Foundation for translational research from Board Chair Gordon Cadwgan and his wife Ruth.

The Foundation launched the program in 2009 to work with patients, academia, pharmaceutical and biotech companies, and public health organizations in the relentless pursuit of cures and therapies for lung and liver diseases caused by Alpha-1.

TAP invests directly in carefully-selected and peer-reviewed new therapies that have the potential Jean-Marc Quach to become a cure for Alpha-1 while also supporting other therapies that improve the quality of life of Alphas. TAP investments come with the Foundation and Alpha-1 community behind them. That support is attractive to other investors who might further fund the therapy.

To date, TAP has made investments in nine

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FRONTIERS

Removing the barriers

companies with potential Alpha-1 therapies; two investments have been made to develop tools that will facilitate research and one investment in a research fellow is in place. All have the potential to bridge a gap between development, clinical trials and the launch of new therapies or cures for Alpha-1.

Four of the investments made to date are in potential therapies for Alpha-1 liver disease, an unmet need in our community. Others are for new and longer lasting augmentation or antiinflammatory therapies, and two are for innovative gene therapies that would change the landscape of Alpha-1 treatment.

Picture yourself only having to use augmentation therapy once a month. Imagine if you could take a pill and stop lung disease progression or correct liver disease. Or, that you could get a single dose of medicine that would program your body to make the correct form of alpha-1 protein or stop making the wrong one. The Board and the Scientific and Business Advisory Committee of TAP do just that. They put the patient first, they imagine what could be, and then back their decisions with both business and scientific savvy.

The recent startup of Apic Bio, Inc., is a great example. With seed money from TAP Ed Krapels and Alpha-1 patient and innovator Ed Krapels, Apic Bio launched to advance a dual vector gene therapy that would potentially treat both Alpha-1 lung and liver diseases. The science started at the University of Massachusetts with dedicated Alpha-1 researchers Christian Mueller, PhD, and Terrence Flotte, MD, both recipients of Alpha-1 Foundation grants and TAP funding for their work.

Finding meaningful endpoints, how to test them and how to prove a potential therapy works are tough obstacles to overcome in therapy development. TAP is skilled at recognizing opportunities to invest in tools that will lessen those barriers and move science forward.

TAP’s investment in the work of Alpha-1 investigators, Andrew Wilson, MD and Darrell Kotton, MD, of Boston University’s Center of

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Regenerative Medicine did just that. The work resulted in 10 lines of induced pluripotent stem cells (iPSC).

These cell lines are now available to the academic research and biotech communities and are Alpha-1 Researchers Flotte, instrumental in Kotton, Mueller and Wilson were featured in the Winter creating research 2016 issue of Alpha-1-To-One systems. As an example, “iPSChepatic cells” were developed and lead to the discovery that the diseased cells secrete alpha-1 protein more slowly than normal cells.

Those same iPSC-hepatic cells are being used by TAP funded fellow Mike Iannotti, PhD, at the National Center for Advancing Translational Science (NCATS) for his work in a high throughput screening lab. There, Iannotti developed an assay (test) that could confirm if a particular substance was able to get the liver cells to release mutant Z protein. With over 150,000 substances in the NCATS library, he put the assay to work. The quick screening of the high throughput lab, coupled with the new assay allowed Iannotti to test the entire library in a matter of months – something that would take years in traditional Michael Iannotti, PhD lab tests. A handful of molecules in the library showed promise and will move into further testing in hopes that one or all might become a viable therapy for Alpha-1 liver disease. Iannotti’s assay has also been made available to those doing research on Alpha-1.

TAP is also great at creating “good corporate 8

citizens.” An early investment was made in Arrowhead Research (now Arrowhead Pharmaceuticals, Inc.) for a potential liver therapy using an RNAi silencing technology aimed at turning off the manufacture of the Z protein in the liver. Arrowhead made immediate efforts to get to know the community and generously supported the Alpha-1 Foundation’s education and support programs. Arrowhead ultimately stopped their clinical trials for their therapy candidate, yet even then their commitment to the community has not wavered. They are back with a new treatment option for Alpha-1 liver disease; an injectable investigational RNAi-based therapy showing promising preclinical data and now slated for clinical trials in early 2018. In a recent statement, Bruce Given, MD, COO of Arrowhead, said, “TAP Bruce Given, MD has been a great partner to Arrowhead, and the engaged patient community will be extremely helpful as we advance ARO-AAT, a much-needed new treatment option to patients with Alpha-1 liver disease.”

Collaboration is a core consideration in TAP’s decisions to invest. With a recent TAP investment and a potential therapy from renowned Alpha-1 researcher Ron Crystal, MD, Adverum Biotechnologies, entered the Alpha-1 space. With executive leadership that is personally touched by rare disease and understands the criticality of unmet needs, Adverum hopes to bring a gene therapy targeted at programming the body to make therapeutic levels of normal alpha-1 protein to the market. Since the moment the TAP investment was made, Adverum sought expertise from the Alpha-1 Foundation, Alpha-1 experts and pursued patient participation in their advisory board, protocol development and ensured the patient voice was heard during a recent FDA meeting. This collaboration proved our missions aligned and active recruitment for their Phase 1/2 trial in healthy ZZ and Z null individuals is about to begin.

The Alpha-1 Project has been a welcomed partner in the mission to cure Alpha-1 and continues to make sure Alpha-1 remains a leading target for therapy development.

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SUPPORT GROUP UPDATE

A lifelong passion for Alpha-1

by Angela Merkens LA Alphas at their Virtual Walk for Alpha-1 Awareness: Karen Erickson with Layla, Ken Benson and Angela Merkens

was diagnosed with Alpha-1 Antitrypsin Deficiency (Alpha-1) and Chronic Obstructive Pulmonary Disease (COPD) when I was 32 years old.

Shortly after, I discovered the Alpha-1 Foundation’s website, attended my first Alpha-1 support group meeting and attended an Alpha-1 Education Day in Anaheim, Calif. I soon realized that I was not the only one with Alpha-1 and I wanted to get connected and be involved in the Alpha-1 community.

Over the past four years I have had many wonderful opportunities to serve in our Alpha-1 community in many ways, as a support group leader, a fundraiser, an Alpha-1 advocate, and most recently as a volunteer committee member.

I met Bill Libby at an Alpha-1 event in 2013. Bill later asked if I would be interested in being his coleader and starting an Alpha-1 support group in

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San Diego, the San Diego Alphas. A few years later, I started a second support group in Los Angeles with Ken Benson, the Los Angeles Alphas.

For Alpha-1 Awareness Month in November, both the Los Angeles Alphas and San Diego Alphas support groups held an Alpha-1 ‘Walk for a Cure’ walk in Santa Monica and Oceanside, Calif.

Attending an Alpha-1 event is a great opportunity to meet other Alphas, increase awareness and raise funds that will go towards research to find a cure for Alpha-1. There are several “Building Friends for a Cure” events to join throughout the year, such as “Escape to the Cape” in Massachusetts, “Get the Scoop on Alpha-1” in Iowa, “George Washington Bridge Walk” in New Jersey and New York, and “Friends for a Cure Golf Tournament” in Florida.

Two years ago, a close family member received a life-saving liver transplant. Going through this process with him I learned how to be a caregiver

Left to right: Board Member Frank Willersin, MD and MASAC members: back row, Tom Corron, Henry R. Moehring, William Donohue, MD, Mark Yarborogh, PhD, Bruce Trapnell, MD, Bradley Youngblood, Jeffrey Atkinson, MD. Front row, Angela Merkens, Debbie Waldrop, RN, Patty Tew, Gerard M. Turino, MD, Mark Brantly, MD.

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1.877.2.CURE.A1 (228.7321)

and a patient advocate. During this time, I reached out to several people at the Foundation who gave me information on Alpha-1 liver disease and transplants. They were so incredibly supportive. I have been able to share what I learned as a caregiver and patient advocate by being an Alpha-1 peer guide.

Increasing Alpha-1 awareness is one of my passions and I have had several opportunities to attend the National Association for Continued Education (NACE) conferences where I was able to provide physicians with educational information on Alpha-1 and share my story.

In June 2016 at the Alpha-1 National Conference in Miami, I received the Dennis Pollock Spirit of Advocacy Award. Dennis Pollock was a support group leader for the Alpha Okies in Oklahoma whose advocacy made a major contribution to the passage of the Genetic Information Nondiscrimination Act. I am also a member of the Alpha-1 Patient Assistance Advisory Council and Public Policy Working Group.

I have had challenges with my medical coverage and I use my experiences to help educate Alphas who have access and reimbursement issues. For the past three years at the Alpha-1 National Conference, I’ve assisted Barbee Bennington, the Foundation’s support group and program coordinator, at the Access and Reimbursement table at the conference.

This year I was invited to join the Medical and Scientific Advisory Committee (MASAC). Being invited to join MASAC as a patient is an honor and I hope that I can contribute by sharing my experiences of being involved in the Alpha-1 community, as an Alpha and as a caregiver.

It was an extraordinary experience attending my first MASAC meeting in Miami. The MASAC committee is composed of physicians, researchers and patients who bring their knowledge, experience and drive to help the Foundation accomplish its mission to find a cure for Alpha-1. MASAC is also dedicated to help improve the lives of people who have Alpha-1.

I was so impressed by the amount of time, energy and dedication that the MASAC committee members contribute to our Alpha-1 community.

Several of the committee members have served the Alpha-1 community for over 20 years. That level of commitment and leadership is inspiring and honorable.

I would like to encourage all Alphas and their family members to get connected and involved in our Alpha-1 community. You can start by attending support group meetings, “Building Friends for a Cure” events, and signing up for the Alpha-1 Research Registry.

We all have different gifts and abilities that we can use to make a difference and ultimately help us on our mission to find a cure for Alpha-1.

Welcome HuskerZ! – Nebraska’s newest Alpha-1 support group Comraderie, education and meeting Henry Moehring, the president and CEO of the Foundation were the focus of a recent combined support group meeting in Lincoln, NE on September 30. The main event was the kickoff of the new HuskerZ support group that will be based in Lincoln. This combined meeting was the second annual picnic for the Central Nebraska and Big Red Alphas Support Group.

Moehring’s attendance gave them an opportunity to exchange ideas and gain insights.

www.alpha1.org

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FRONTIERS 12

Be the 6,000th member of the Alpha-1 Research Registry! his year marks the 20th anniversary of the founding of the Alpha-1 Foundation Research Registry. Increased education and awareness, access to free testing and higher rates of diagnosis have all contributed to the Registry’s growth.

The Alpha-1 Research Registry is a voluntary, confidential database comprised of individuals diagnosed with Alpha-1 Antitrypsin Deficiency (Alpha-1) or the carrier state. It was established by the Alpha-1 Foundation in 1997 and is located at the Medical University of South Carolina (MUSC) in Charleston, SC. “As 2017 comes to a close, we are excited to report our largest enrollment year yet. In addition, we are about to hit an important milestone: 6,000 members!” said Charlie Strange, MD, director of the Alpha-1 Foundation Research Registry and professor of pulmonary and critical care at MUSC. “For these reasons, we want to acknowledge our members and thank them for their willingness to participate in research. Finding a cure for Alpha-1 is our core mission, and we could not do it without you.”

Over the past 20 years, the Registry has recruited for 81 studies related to Alpha-1, including topics in lung and liver disease for all affected genotypes. In addition, studies exploring other parts of the body Charlie Strange, MD that are not thought to be affected by Alpha-1 such as dental disease, renal disease and arthritis have been completed.

At press time, 5,945 individuals are currently Registry members. The vast majority are adult participants (96%), although individuals of all ages

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REGISTRY MEMBERSHIP Male

Female

37% 63%

who are diagnosed with Alpha-1 or are identified as carriers are encouraged to enroll. The median age is 54.8 years old, and a surprising 63% of all participants are women. Genotype reporting is essential to clinical research and care, and 93% of Registry members have a reported genotype. ZZ participants comprise the largest portion of the Registry at 40%, followed by MZ’s at 38%, and SZ’s at 8%.

“We strive to ensure that the Registry is representative of the entire Alpha-1 population, and so we are making a direct plea to all male Alphas and male Alpha-1 carriers to step up to the plate and join!” said Eryn Varano, the Alpha-1 Research Registry Coordinator at MUSC. The primary purpose of the Registry is to connect investigators with Alphas and Alpha-1 carriers for participation in clinical trials, surveys and other data collection efforts. Trial participation allows members to gain access to experts in Alpha-1 clinical care. Members also receive updates through 1.877.2.CURE.A1 (228.7321)

in the Registry, but really are not. After signing newsletters with information on the community’s latest research activities. These research activities many papers following diagnosis, newly diagnosed are broad in nature and vary over time. The research individuals often believe one of those was for the could be as simple as completing a questionnaire Registry. We also know that men have lower rates of or as complex as testing the safety of gene therapy.

Registry participation in most rare diseases.”

Current recruitment includes augmentation therapy One of the benefits of joining is that individuals studies for COPD patients and medication studies experience some redemptive benefit from Registry for individuals with established liver disease. The participation. pipeline of studies that will need participants is “Recently, we were assisting a newly diagnosed much larger than the number of individuals in the woman sign up for the Registry. She stated her Registry who meet study requirements. relief in discovering others like her, and explained The slow pace of research is always a concern. that for the first time in a long time, she felt However, the opportunity to advance medical normal,” said Varano. knowledge for future generations of Alphas is at Enrolling in the Registry is simple: sign and the heart of the Foundation’s mission. In order complete the questionnaire! This can be done online to achieve faster cures, there need to be enough at alphaoneregistry.org, or through a paper form registrants to meet the challenges of study sent by mail. The questionnaire will go straight enrollments. Efforts to recruit participants come to the Registry Coordinating Center at MUSC, by mail, email, phone, websites and in person at where only the registry director and coordinators clinics and Alpha-1 Education Days. have access to your personal information. Personal Although the benefits of research are plentiful, identities will never be revealed to researchers, and many people are unfamiliar with the details or participants are always given the option to accept or have reservations about participation. Fear of the decline our research invitations. unknown, concern with experimental treatments and worry about potential side effects are all common. In To find out more about the Alpha-1 Foundation some instances, trials may simply be inconvenient Research Registry, call toll-free at 1-877-886because they require too much time, need long 2383, or visit: alphaoneregistry.org. distance travel, or are incompatible with a person’s schedule.

REGISTRY ENROLLMENT The Registry team aims to earn trust 6000 by providing clear 5500 explanations of the objectives and 5000 requirements of each 4500 research study, and they are available to 4000 discuss these in depth 3500 to help potential participants make 3000 informed decisions.

2500 “What can we tell 2000 you that you do not already know 1500 about the Registry?”

1000 asks Dr. Strange, 500 “We know that many Alphas in 0 the community think they are www.alpha1.org

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ALPHA LIFE 14

College-bound Alphas his year, the Alpha-1 Foundation awarded educational scholarships totaling $12,500 to five deserving students.

The Robert (Bob) Haggerty Scholarship, honoring the memory of the man who was the face and voice of the Alpha-1 Association for almost a decade, was awarded to Frank Conrad. Conrad, an Alpha who holds an associate’s degree in the culinary arts, decided to go back to school to pursue a degree in social work after volunteering at his local church and discovering his passion for helping others. As a child, he was in special education classes and recalls being bullied. Conrad says he is especially grateful for this scholarship so that he “can one day help a young person or anyone who has health issues (even Alpha1) understand they are not alone and there is hope.”

The Peter Smith Scholarship, which honors the memory of Smith who believed that knowledge is power and whose efforts encouraged and inspired Alphas to connect with and learn from each other, was awarded to Joseph Garloch. The son of an Alpha, he graduated high school Summa Cum Laude and started college as a sophomore this year after transferring 38 credits from dual enrollment and AP courses. He plans to pursue a degree in chemistry in the hopes of being able to find new ways to treat Alpha-1.

“My lesson with Alpha-1 has been up close and personal,” Garloch says. “I hope to learn more about diseases like Alpha-1 and hope to one day Joseph Garloch find a cure.”

This year’s Terry Young Scholarship, which honors the memory of a co-founder of AlphaNet and the first AlphaNet Coordinator, was awarded to Felicia Hoerner. Hoerner is a nurse, has helped test COPD patients for Alpha-1 through her job and also presents to local schools on the harmful effects of smoking. She is currently attending

T

graduate school to become a physician assistant. “In 2012, my grandfather passed away from complications due to Alpha-1,” she says, “He was always in my corner pushing me to attain my goals, more aware of my potential than I was. My mother also has Felicia Hoerner Alpha-1 and I hope to one day enter the pulmonology field to help Alphas. With this scholarship, it is more possible for me.”

The John (Jack) W. Walsh III Scholarship, honoring the memory of Walsh, affectionately known as “Coach”, who was the consummate educator, mentor and counselor was awarded to Mackyle (Mack) Little. Little is a college student and football player at Western Oregon University studying business, biology and fire science. He graduated high school with a 4.0 GPA. Grateful for this scholarship, Mack says, “Not having the burden over my shoulder of how to come up with the last bit of money so I can get an education allows me to be more successful in the classroom as well as on Mackyle Little the football field.” Mack’s father is an Alpha currently listed for transplant. “This disease is in our lives for a reason. We are handling it with love, hopefulness and an attitude of perseverance,” he says.

This year’s Lou Glenn Scholarship, which honors the memory of Glenn, a dedicated caregiver, Association board member and support group leader, was awarded to Olivia Pippio. Pippio, a college freshman studying physical therapy, is an Alpha who learned at a young age “how this disease would have an impact on [her] life and the decisions [she] would be making.” Olivia had this to say about how she handled peer pressure in high school, “if Alpha-1 has taught me anything, it’s that all you need to have a good time is to surround yourself with a group of positive people who share the same interests as you and have a great mindset.”

Congratulation to the recipients of this year’s educational scholarships!

The 2018 educational scholarship applications will be available on February 1, 2018. For more information, visit alpha1.org.

1.877.2.CURE.A1 (228.7321)

Explore, Engage, and Experience the Alpha-1 Community that CareZ ( $- Ĺľ - *ĂŽ -. *(+- # ).$1 .0++*-/ !*- 4*0 ) 4*0- ! ($'4

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15

(+*-/ )/ ! /4 )!*-( /$*) ZemairaÂŽ is indicated to raise the plasma level of alpha1-proteinase inhibitor (A1-PI) in patients with A1ÄĽ Ă° $ ) 4 ) - ' / (+#4. ( ÄŽ # ĂŽ / *! /#$. - $. ' 1 ' *) /# !- ,0 ) 4 *! +0'(*) -4 3 - /$*). ) /# +-*"- ..$*) of emphysema have not been established in clinical trials.

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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.

Coaches teen daughters on careers, good life decisions hile most parents worry about the choices their children will make in their lives, parents of Alpha-1 kids may feel added pressure. They’re guiding their children’s decisions and influencing their ability to make healthy choices because, in fact, their lives may quite literally depend on it.

Jen Childress, a mother of two teenage girls who have Alpha-1, understands the weight her girls’ decisions will carry. That’s why she started talking to them about their diagnoses when they were toddlers.

She understood the importance of how making certain choices in their lives, like drinking alcohol or smoking, could have detrimental effects.

“My philosophy was to raise them with knowledge of what they had,” Childress said.

Alpha-1 typically manifests in the lungs, the liver, or both. Published research shows that certain exposures like those in cigarette smoking and drinking alcohol may predispose “Alphas” to activated disease in the lungs and liver and significantly raise their risk of developing them.

Soon after her first daughter was diagnosed with Alpha-1 as an infant, Childress immersed herself in medical literature. After her second daughter was born with Alpha-1, Childress said she knew it was up to her to educate herself and her children. “It has become my PhD. I absorbed as much information as I could. It drove me crazy not knowing what was going on.”

Childress became an advocate for Alpha-1 and served on projects such as a newborn screening panel. She served on the board of directors of the Alpha-1 Association for nine years prior to its merger with the Alpha-1 Foundation.

She has become a trusted source of information and guidance for Alpha-1 patients, especially her

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www.alpha1.org

Jen and Grace visit Meghan in the NICU

ALPHA-1 KIDS

Alpha mom takes action

daughters. They talk about making healthy choices and good decisions. Some of those discussions include conversations about careers the teens may someday be interested in. “I tell them ‘I want to keep you out of professions that could be hard on you.”

Childress recommends parents of Alpha-1 kids get involved and attend Alpha-1 meetings. She says the Foundation has a few books that are written to appeal to kids and teens with the disease and to help them understand the importance of making good decisions.

Cathey Horsak, the Foundation’s Director of Community Programs, answers questions from parents like Childress and is a key staffer on the Alpha-1 Kids program. Horsak has worked with the Alpha-1 community since 2003, just four years after losing her husband to undiagnosed Alpha-1; the diagnosis came after his death.

Horsak says an Alpha-1 diagnosis is not easy on families, but programs such as Alpha-1 Kids and Peer Guides can help. Programs that connect kids and match parents with other Alpha-1 parents can be important to the family’s understanding of the disease and can help guide their decisions as children grow. She also encourages parents to join the virtual support group calls that happen several times a year.

17

“If our Alpha children know their propensity, they can make good healthy life choices,” Horsak said.

Often, Alpha-1 children diagnosed with liver problems early in life get better over time and perhaps they and their parents settle into a false sense of security. “The continuum of care is so important, but sometimes we lose the parents because the kids are better and they don’t want to think about it [Alpha-1],” Horsak said. “It is so very important that those parents get connected in the community and educate their children.”

Horsak says career choice is critically important for Alphas. Jobs and careers such as those in farming, firefighting, coal mining, as well as working in beauty salons and chemical plants are discouraged.

“Working to strengthen programs for teens and young adults is something the Foundation is working on, in part because it is a critical time for decision-making in their lives. That is one of our challenges,” added Horsak. “How do we keep kids involved and engaged?”

Childress encourages parents to be open and honest with their kids and give them a sense of responsibility in their disease even at young ages.

“Most people have five life-threatening genes. They just happen to know theirs,” Childress said.

Jen Childress and her daughers Meghan and Grace

She says teens who have Alpha-1 are different in how they approach their disease. “Dealing with Alpha-1 is unique to each kid and how they accept it.”

“My recommendation for other teens with Alpha-1 is to use common sense and stay away from anything that isn’t good for your body, especially stay away from cigarette smoke,” says 15-year-old Grace.

18

Teenage Alphas: Grace and Meghan Bauernfiend

Meghan, 13, also weighed in, “I try to learn as much as possible about my condition so I can take care of myself when I’m an adult. I’ve learned to stay away from smoke of any kind, and not to drink alcohol. I attend our local Alpha Pack support group meetings.”

“Choosing a knowledgeable medical team is critical,” says Childress. Her daughters are patients of gastroenterologist Jeffrey Teckman, MD, Director of Pediatric Gastroenterology and Hepatology at St. Louis University School of Medicine and Cardinal Glennon Children’s Hospital.

Dr. Teckman says the group of ZZ Alphas like the girls who experience liver issues at birth makes up about 20-25 percent of Alpha-1 patients. Since there is still no systematic newborn screening in place nationwide, 75 percent don’t get diagnosed when they are born, though the disease is present and can be detected early.

Childress takes her girls to St. Louis to see Dr. Teckman, even though they live outside of Milwaukee. She chose him for her girls after seeing him speak and present on his work in Alpha-1. “I am amazed. It is a blessing to have him,” she said.

Though the regular checkups are no walk in the park, says Meghan, “I’m not a big fan of blood tests to check my liver, but it helps me know if my liver is healthy or not.”

“Being involved in research is also incredibly important,” Childress says. Her girls participate in a longitudinal Alpha-1 study of children with the disease through the National Institutes of Health’s National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK).

Childress is optimistic about her daughters’ lives and trusts they are armed to make the good decisions she knows they are capable of making.

“I have two beautiful teenage daughters and they happen to have Alpha-1,” she said.

1.877.2.CURE.A1 (228.7321)

ALPHA-1 1 FOUNDATION

ALPHA LIFE

Remembering Alphas ike most people, Janet Henderson had never heard of Alpha-1 before her diagnosis at age 47. “But I jumped in feet first,” she said in a 2012 story written about her. She went to her first Alpha-1 support group in Kansas City to hear an expert named Robert A. Sandhaus, MD, PhD, talk about Alpha-1 lung disease. “It was great. People were laughing and asking questions, and I learned more about Alpha-1 in that hour than I had in six months of researching.”

She was an active member of the Alpha-1 Association and served on its board of directors from 2006 – 2011. Alpha-1 Foundation President and CEO, Henry Moehring remembers the time they served on the Association Board, “Janet had Janet Henderson a strong commitment to the Alpha-1 community. Her passion and energy stood out in her service as a volunteer and Association board member.”

Cathey Horsak collaborated with her in several committees, “Janet was a beautiful person, inside and out. I was fortunate to work with her on several committees and projects. She had a very good heart, always thinking of and willing to help others.”

She entered the University of Minnesota Medical Center for a double lung transplant on April 20, 2017. She passed away May 7, 2017, due to postsurgery complications.

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Frank Deford, a famed sportswriter for more than half a century, a weekly commentator for National Public Radio’s Morning Edition for 37 years, and six-time U.S. Sportswriter of the Year for his work with Sports Illustrated magazine, passed away Sunday, May 28, 2017, at his home in Key West, FL. He was 78.

Deford, who had lung disease due to Alpha-1, was featured on the cover of Alpha-1-To-One in spring 20

2008. He talked about losing his job and being diagnosed with Alpha-1 in the same week and how he was inspired on days when his breathing was bad by his daughter Alex, who had died of cystic fibrosis at age 8. “She was so extraordinarily brave at such a young age – well, I’d be insulting her memory if I wasn’t up to her standards when Frank Deford I’m tested in that way.”

Deford, like many Alphas, was told he had a fatal, incurable disease. Fortunately, he was able to talk with Alpha-1 specialist Edward Eden, MD, in New York City, who recommended that he begin receiving augmentation therapy.

Deford received a National Humanities Medal, the first sportswriter to win the honor, from President Barack Obama in 2013.

Emma Louise (Lou) Glenn passed away Tuesday, July 11, 2017. Many in the Alpha-1 community will remember Lou as Patti Brown’s mom.

Brown is an AlphaNet Coordinator in Texas. Lou became involved in the Alpha-1 community after Brown’s diagnosis. She was elected to the Alpha-1 Association’s board from 19942006. She also served as a support group leader in Atlanta and then in Dallas after moving to Texas to be closer to Brown and her family.

Cathey Horsak shared, “Lou was a staunch supporter of the Emma Louise Alpha-1 community through (Lou) Glenn her leadership roles as a board member and a support group leader. She advocated for Alphas in Washington, D.C. on several occasions and tirelessly worked to support Alphas in her local area.”

Lou was born on January 30, 1931 to Milton Robert Carr and Ruth Rose Clevelend Carr in Salamanca, NY. She moved to Spokane, WA, married and had three children. She later moved to Dallas where she worked at Braniff International and married pilot Bob Eckstein. After his death she moved to Atlanta where she met and married Joseph Glenn. She was featured on the cover of the Spring 2007 cover of Alpha-1-To-One Magazine.

1.877.2.CURE.A1 (228.7321)

For adult patients diagnosed nos osed ed with witith h emphysema emp phy hyse sema se ma due due to to -antitrypsin anttititry ryyps psin in n (AAT) (AA AAT) T d T) deficiency efic ef icie ie enc n y a1-a severe hereditary alpha

As personal as care gets PROLASTIN®-C (alpha1-proteinase inhibitor [human]): The #1-prescribed augmentation therapy every year for over 25 years 1

s >3 million infusions worldwide1

PROLASTIN C

s 15-minute average infusion time at the recommended rate of 0.08 mL/kg/min2 s Well-established safety profile — Because PROLASTIN-C 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 2

s PROLASTIN-C is available ONLY through the PROLASTIN DIRECT® program, offering comprehensive, personalized alpha-1 support for patients and physicians and their practices

Your Alpha-1 Partner For more information, call 1-800-305-7881 or visit www.prolastin.com.

Important Safety Information PROLASTIN®-C (alpha1-proteinase inhibitor [human]) is 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).

The effect of augmentation therapy with any alpha1-proteinase inhibitor (alpha1-PI), including PROLASTIN-C, on pulmonary exacerbations and on the progression of emphysema in alpha1-antitrypsin 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 are not available.

PROLASTIN-C is not indicated as therapy for lung disease in patients in whom severe alpha1-PI deficiency has not been established.

PROLASTIN-C is contraindicated in IgA-deficient patients with antibodies against IgA due to the risk of severe hypersensitivity and in patients with a history of anaphylaxis or other severe systemic reactions to alpha1-PI. Hypersensitivity reactions, including anaphylaxis, may occur. Monitor vital signs and observe the patient carefully throughout the infusion. Should hypersensitivity symptoms be observed, promptly stop infusion and begin appropriate therapy.

Have epinephrine and other appropriate therapy available for the treatment of any acute anaphylactic or anaphylactoid reaction.

PROLASTIN-C may contain trace amounts of IgA. Patients with known antibodies to IgA, which can be present in patients with selective or severe IgA deficiency, have a greater risk of developing potentially severe hypersensitivity and anaphylactic reactions.

The most common drug-related adverse reaction observed at a rate of >5% in subjects receiving PROLASTIN-C was upper respiratory tract infection. The most serious adverse reaction observed during clinical trials with PROLASTIN-C was an abdominal and extremity rash in 1 subject.

Because PROLASTIN-C 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.

Please see brief summary of PROLASTIN-C full Prescribing Information 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.

References: 1. Data on file, Grifols. 2. PROLASTIN®-C (alpha1-proteinase inhibitor [human]) Prescribing Information. Grifols.

© 2017 Grifols.

All rights reserved.

July 2017

US/PR/0716/0263a

22

1.877.2.CURE.A1 (228.7321)

Supplemental oxygen access

New capabilities

We knew that competitive bidding for oxygen in Medicare would have an impact on our community.

However, few could imagine how serious things would get. By the end of 2015, both healthcare providers and patients reported issues with supplemental home oxygen.

As we worked with the Center for Medicaid and Medicare Services (CMS) in hopes of finding solutions, we quickly realized they didn’t understand the scope of the problems. They didn’t have any data or active complaints and didn’t believe there was any issue at all.

In order to show them how not only Alphas, but many other patient communities were also being adversely affected, we collaborated with professional societies and patient advocacy groups. In September of 2016, we launched the, “Patient Supplemental Oxygen Survey.” Nearly 2,000 patients responded; 169 of them were Alphas.

Over half of the patients who responded reported one or more issues. Sixty percent of Alphas reported having issues with their supplemental oxygen.

The survey data is now published and great efforts will be made to address the issues. Your stories have been and continue to be vital as our grassroots efforts move to ensure appropriate access to equipment and the services required for suitable supplemental oxygen delivery.

In recent years, the Foundation has asked the community to message their representatives in various ways that were, at times, cumbersome.

Though hundreds of you were successful, we wanted to make the process as simple as possible.

In September, two great things happened for us: First, Roberto Balderas, MPH was named as the Foundation’s Grassroots Advocacy Manager. His skill set is impressive, with a master’s in public health Roberto Balderas and great experience with the State of Florida Alpha-1 Detection Program. Balderas is also an Alpha-1 caregiver; his wife, Roxanne, is an Alpha who received a double-lung transplant earlier this year. He will be working to make sure the community has all the resources they need to be successful in their grassroots advocacy. You can reach him at rbalderas@alpha1.org.

Second, we launched a new and improved platform on the Alpha-1 Action Center. In less than a single week, over 200 grassroots advocates signed up and sent nearly 600 messages using the system. Be sure to join at alpha1.org/Action-Center. It simple, just click on “Quick Sign-up” to get started.

The long history of the Alpha-1 community’s contribution to policy continues to grow and the commitment to ensuring access to care, essential health benefits and patient-centered policy is alive and well. Keep up the good work.

The seeds have been planted

I

COPD National Action Plan A big win for the Alpha-1 community came in mid-May 2017. Henry R. Moehring (Alpha-1 www.alpha1.org

IN YOUR INTEREST

n a year of uncertainty in the healthcare policy arena, one thing stood out – the Alpha-1 community is educated and engaged in policy that impacts care.

If you put politics aside and had real conversations about the essential health benefits vital to you and your fellow Alphas, you were heard.

Foundation), Antonello Punturieri, MD, PhD, (NIH and NHLBI), and Byron Thomashow, MD, (COPD Foundation), launched the COPD National Action Plan.

Alphas had been an essential part of the development of the plan since early 2016, so it was quite a surprise when Alpha-1 was not specifically mentioned in the first draft. Once again, the Alpha-1 community responded and revisions were made to include Alpha-1 in each of the five goals of the plan.

The Alpha-1 Foundation will be part of the frontlines of implementing the COPD National Action Plan, with emphasis on Alpha-1 research, detection, therapy development and management of Alpha-1-related COPD.

23

ALPHA LIFE 24

You are what you breathe ven after her Alpha-1 diagnosis, Terri Leffler couldn’t seem to catch her breath.

She had been prescribed a cocktail of Chronic Obstructive Pulmonary Disease (COPD) treatments and augmentation therapy, but her health wasn’t improving. It wasn’t until a major life move, influenced by her daughter, that she finally started to feel a difference.

Leffler knew there was a history of Alpha-1 in her family. One of her brothers passed away from Alpha-1-related lung disease while waiting for a lung transplant and the other had been tested for Alpha-1. Due to misinformation about Alpha-1 at the time, neither Leffler nor her sister was tested.

It would be another 25 years before her brother’s diagnosis would be one of the clues to solve her own medical mystery.

In 2006, Leffler moved into a 60-year-old home in Jackson, Miss. Shortly after, she began to have breathing issues. Poor results on a pulmonary function test led to a referral to a pulmonologist who looked at her symptoms and family history and promptly tested her for Alpha-1.

“He told me he didn’t think I had it, but sure enough three weeks later I’m back at his office and he tells me I’m a ZZ,” Leffler remembers. “He gave me five or six different prescriptions and told me to go home and get my affairs in order.”

The doctor told her to come back in three weeks and she responded, “No, I won’t. I’m going to go find a doctor that can help me find some answers and help me to live, not go home and die.”

Her daughter Chelle Warren, called her that afternoon anxious to hear about the results. Leffler told her what the doctor had said, and her daughter responded with the same determination to find hope.

Before the weekend was over, Warren had researched Alpha-1 online and both she and Leffler spoke with Cathey Horsak from the Alpha-1 Patient Info Line and Barbee Bennington, who

E

is currently the Foundation’s support group and program coordinator. Horsak and Bennington reassured Leffler and her daughter that they weren’t alone and they didn’t have to accept the prognosis they were given.

Horsak connected Leffler with an Alpha-1 specialist and she began augmentation therapy. However, after several years on therapy and a variety of COPD and Alpha-1 medications, Leffler’s condition showed little improvement. In fact, her condition deteriorated. So in 2010, she made the decision to stop therapy.

One day, her daughter, who lived in Austin, TX was sharing her mother’s struggle with a co-worker who related a similar experience and suggested maybe Leffler’s house had mold. Warren asked her mother to come spend some time with her in Austin, and after a few weeks there, Leffler started to feel much better. “I wasn’t asleep all the time,” she recalls. “I wasn’t running a fever all the time. Much of the coughing and respiratory issues began to clear up.”

Testing revealed that Leffler’s home had black mold, as well as Stachybotrys, Penicillium, Aspergillus and several others, all of which can cause lung complications.

After almost a year in Austin, Leffler went back to her mold-riddled home to salvage what little hadn’t been compromised and prepare to move away permanently.

Terri Leffler Once her health improved, Leffler decided she wanted to help Alphas like her.

She began working with an Alpha-1 health management program where she spent two years.

The program eventually merged with AlphaNet, where she’s now an AlphaNet Coordinator and continues to fulfill her goal of serving Alphas.

Leffler reminds Alphas to consider environmental factors when they face health issues, “When I have a new patient, I always ask them their story because I have found there are people that have a similar story to mine, and it can affect them differently as Alphas.”

1.877.2.CURE.A1 (228.7321)

AT HOME OR AROUND TOWN* +o _- ; orঞomv *Your healthcare professional will decide if self-infusion or nurse-assisted infusion in your home or other appropriate setting is right for you. If you are eligible to self-infuse, do not attempt to do an infusion to yourself unless you or your caregiver have been taught how by your healthcare professional.

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• Patient training, tools, and resources that help to ensure consistency and adherence

• Copay assistance for eligible patients† • Free trial offer

†

For commercial insurance that covers medication costs for GLASSIA® treatment and allows for copay assistance. Not valid for prescriptions reimbursed by any federal or state healthcare programs and where prohibited by law. For full Terms and Conditions, please call the CoPay Program at 1-800-618-7527.

INDICATION FOR GLASSIA GLASSIA is a liquid medicine containing human Alpha1-Proteinase Inhibitor (Alpha1-PI) also known as alpha1-antitrypsin (AAT), which is purified from human blood. The main purpose of infusing GLASSIA is to increase the levels of the AAT protein in your blood and lungs. AAT protein protects the lung tissue by blocking certain enzyme-caused damage. Such damage can lead to severe lung disease, such as emphysema.

Limitations of Use: • The effects of increasing the AAT protein levels with GLASSIA or any other Alpha1-PI product on worsening pulmonary function and progression of emphysema have not been proven in clinical trials.

• The long-term effects of AAT replacement and maintenance therapy with GLASSIA have not been studied.

• GLASSIA is not intended as a therapy in individuals with lung disease other than severe Alpha1-PI deficiency.

DETAILED IMPORTANT RISK INFORMATION FOR GLASSIA

SEVERE ALLERGIC REACTIONS • You should not use GLASSIA if you have immunoglobulin A (IgA) deficiency with antibodies to IgA or have had a severe allergic reaction to human Alpha1-PI products.

• Severe allergic reactions can occur with GLASSIA. Your doctor will inform you about signs of allergic reactions which include hives, swelling in the mouth or throat, itching, tightness in the chest, trouble breathing, wheezing, faintness, low blood pressure, or serious allergic reaction. If you have any of these reactions, discontinue use of the product and contact your physician and/or seek immediate emergency care, depending on the severity of the reaction.

TRANSMISSION OF INFECTIOUS AGENTS • GLASSIA is made from human plasma and therefore the possibility of transmitting infectious agents (e.g., viruses) cannot be totally excluded. Risk of transmitting an infectious agent has been reduced with donor screening, plasma testing and removal of certain viruses during the manufacturing process. Despite these measures, such products may still potentially transmit human infectious agents.

SIDE EFFECTS • A possible side effect to GLASSIA is worsening or flare-up of your chronic obstructive pulmonary disease (COPD) in which your breathing gets worse than usual.

• The most common side effects are headache and upper respiratory tract infections. Other possible side effects of GLASSIA include: cough, sinus infection, chest discomfort, dizziness, increased liver enzymes, shortness of breath, nausea, and fatigue.

You are encouraged to report negative side effects of GLASSIA by contacting FDA at 1-800-FDA-1088 or www.fda.gov/medwatch or Kamada Ltd. at 1-866-GLASSIA. Please see the GLASSIA Brief Summary of Prescribing Information on the back. © 2017 Shire US Inc., Lexington, MA 02421. All rights reserved. 1-800-828-2088.

SHIRE and the Shire Logo are registered trademarks of Shire Pharmaceutical Holdings Ireland Limited or its affiliates.

GLASSIA is a registered trademark of Kamada Ltd., and used under license.

S34412 09/17

IMPORTANT INFORMATION ABOUT GLASSIA [Alpha1-Proteinase Inhibitor (Human)] Injection Solution - For Intravenous Use Only Brief Summary of Prescribing Information. Please see package insert for full prescribing information.

The following summarizes important information about GLASSIA (pronounced glass-see-a˘). Please read it carefully before using this medicine. This information does not take the place of talking with your healthcare professional, and it does not include all of the important information about GLASSIA. If you have any questions after reading this, ask your healthcare professional.

What is GLASSIA? GLASSIA is a liquid medicine containing human Alpha1-Proteinase Inhibitor (Alpha1-PI) also known as alpha1-antitrypsin (AAT), which is purified from human blood. The main purpose of infusing GLASSIA is to increase the levels of the AAT protein in your blood and lungs. AAT protein protects the lung tissue by blocking certain enzyme-caused damage. Such damage can lead to severe lung disease, such as emphysema.

Limitations of Use: • The effects of increasing the AAT protein levels with GLASSIA or any other Alpha1-PI product on worsening pulmonary function and progression of emphysema have not been proven in clinical trials. • The long-term effects of AAT replacement and maintenance therapy with GLASSIA have not been studied. • GLASSIA is not intended as a therapy in individuals with lung disease other than severe Alpha1-PI deficiency.

Who should not take GLASSIA? You should not use GLASSIA if you: • Have IgA deficiency with antibodies to IgA • Have had a severe allergic reaction to human Alpha1-PI products What is the most important information that I should know about GLASSIA? Severe allergic reactions can occur with GLASSIA. Your doctor will inform you about signs of allergic reactions which include hives, swelling in the mouth or throat, itching, tightness in the chest, trouble breathing, wheezing, faintness, low blood pressure, or serious allergic reaction. If you have any of these reactions, discontinue use of the product and contact your physician and/or seek immediate emergency care, depending on the severity of the reaction.

If you or your caregiver will be administering GLASSIA outside a healthcare setting, ask your doctor about an epinephrine pen and/or other supportive care for certain severe allergic reactions. Ask your doctor to make sure you receive training on how and when to use any prescribed supportive care medicine and keep it close at hand when administering GLASSIA. 26

What are the possible or reasonably likely side effects of GLASSIA? • A possible side effect to GLASSIA is worsening or flare-up of your chronic obstructive pulmonary disease (COPD) in which your breathing gets worse than usual. • Call your healthcare professional or go to your emergency department right away if you get: hives, swelling in the mouth or throat, itching, chest tightness, trouble breathing, wheezing, fainting or dizziness. These could be signs of a serious allergic reaction. • The most common side effects are headache and upper respiratory tract infections. Other possible side effects of GLASSIA include: cough, sinus infection, chest discomfort, dizziness, increased liver enzymes, shortness of breath, nausea, and fatigue.

These are not all of the possible side effects for GLASSIA. You can ask your healthcare professional for information that is provided to healthcare professionals.

Talk to your healthcare professional about any side effects that bother you or that don’t go away.

How should I take GLASSIA? • GLASSIA is given directly into the bloodstream. • You can get GLASSIA at your healthcare professional’s office, clinic, hospital or delivered directly to your home by a healthcare professional from a limited network of specialty pharmacy providers. • Your healthcare professional will decide if self-infusion in your home is right for you. You should be trained on how to do infusions by your healthcare professional.

You are encouraged to report negative side effects of GLASSIA by contacting FDA at 1-800-FDA-1088 or www.fda.gov/medwatch or Kamada Ltd. at 1-866-GLASSIA. The information provided here is not comprehensive.

To learn more, talk about GLASSIA with your healthcare provider or pharmacist. The FDAapproved product labeling can be found at www.

LiquidGLASSIA.com or by calling 1-800-423-2090. ÂĽ 4IJSF 64 *OD -FYJOHUPO ." "MM SJHIUT SFTFSWFE 4)*3& BOE UIF 4IJSF -PHP BSF SFHJTUFSFE USBEFNBSLT PG 4IJSF 1IBSNBDFVUJDBM )PMEJOHT *SFMBOE -JNJUFE PS JUT BGGJMJBUFT (-"44*" JT B SFHJTUFSFE USBEFNBSL PG ,BNBEB -UE BOE VTFE VOEFS MJDFOTF Manufactured by: Kamada Ltd. Beit Kama MP Negev 8532500 Israel USA U.S. License No. 1826

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Issued June 201 ) (-" 64 4 1.877.2.CURE.A1 (228.7321)

http://oi s mis apps/mydc/default.aspx Dec. 2 Palm Desert, CA SoCal Roadrunners Auburn, WA Washington Alphas Schenectady, NY Capitol Region of NY Alphas Fort Wayne, IN Fort Wayne Alphas Hershey, PA Southeast Keystone Alphas Princeton, WV West Virginia Alphas Birmingham, AL Alabama Alphas Monroeville, PA AlphaBurgherZ Dec. 9 Norfolk, VA Norfolk, VA Alpha-1 Connection Kansas City, MO Midwest Alphas Lubbock, TX West Texas Alphas Oklahoma City, OK Alpha Okies Gainesville, FL Gainesville Alphas Dec. 10 King of Prussia, PA Alpha Opportunities Dec. 13 Scottsdale, AZ Alphazonies Las Vegas, NV Las Vegas Alphas Dec. 14 Wheelersburg, OH Strickly Alphas Needham, MA Massachusetts Alphas Dec. 15 Tucson, AZ Old Pueblo Alphas Dec. 16 Indianapolis, IN Hoosier Alphas Jan. 4 Bentonville, AR Northwest Arkansas Jan. 10 Scottsdale, AZ Alphazonies Jan. 13 Alpharetta, GA Central Georgia Alphas Baton Rouge, LA Louisiana Alphas Concord, CA San Francisco Bay Area Alphas Jan. 20 Shepherdsville, KY Kentucky Alphas Shreveport-Bossier City, LA Louisiana Alphas

Jan. 20 San Diego, CA Fredrick, MD Reno, NV Miami, FL Jan. 27 Calabasas, CA Charleston, SC Feb. 3 Palm Desert, CA Feb. 10 Norfolk, VA Shepherdsville, KY Sarasota, FL Feb. 14 Scottsdale, AZ Sacramento, CA Feb. 16 Tucson, AZ Feb. 17 Wood Dale, IL Feb. 24 Grand Island, NE Feb. 27 Macon, GA Mar. 10 Shepherdsville, KY Peoria, IL Fredrick, MD Dunnellon, FL Mar. 17 Los Angeles, CA South Jordan, UT Mar. 24 Alpharetta, GA Columbia, MD Columbus, OH San Diego, CA

San Diego Alphas Northern Virginia (NOVA) Reno-Tahoe Alphas Alpha Gators LA Alphas Coastal Carolina Alphas SoCal Roadrunners VA Alpha-1 Connection Kentucky Alphas FL Gulf Coast Alphas Alphazonies Sacramento Alphas Old Pueblo Alphas Chicagoland Alphas Central Nebraska Alphas Heart of Georgia Alphas Kentucky Alphas Open Arms for Alpha-1 Northern Virginia (NOVA) Gainesville Alphas LA Alphas Utah Alphas Central Georgia Alphas Maryland Alphas Buckeye Alphas San Diego Alphas

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

VIRTUAL SUPPORT GROUP WEBINARS Jan. 23 State of the Union Address Mar. 13 Research Registry & Clinical Trials Update For more information, visit alpha1.org/webinars.

Henry R. Moehring, MBA, President & CEO, Alpha-1 Foundation Charlie Strange, MD, Medical University of South Carolina

BUILDING FRIENDS FOR A CURE EVENTS Bob Healy Mar. 3 Celtic Connection Boston, MA bobhealy125@msn.com Apr. 16 Golf for a Cure Jacksonville, FL Richard & Sarah Johnson rpjjag@comcast.net Apr. 28 Hero Walk Richmond, VA Pam Vanscoy vaalpha1herowalk@yahoo.com For more information about Building Friends for a Cure, contact Angela McBride, (877) 228-7321, ext. 233 or amcbride@alpha1.org.

2017 -2018 CALENDAR

SUPPORT GROUP MEETINGS

EDUCATION DAYS Feb. 24 Aug. 25 Tampa, FL Omaha, NE Mar. 24 Tulsa, OK Sep. 22 Grand Rapids/Lansing, MI Apr. 28 Richmond, VA Oct. 20 Seattle, WA For more information about Education Days or the National Conference, contact Kim Caraballo, (877) 228-7321, ext. 323 or ycaraballo@alpha1.org.

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SAVE the

DATE www.alpha1.org

27th Annual National Education Conference June 29 - July 1, 2018 Visit a1f.org/alpha1conference for more information

Please visit the calendar at alpha1.org for more information on these Support Group meetings and other upcoming events.

27

ALPHA-1 1 FOUNDATION

3300 Ponce de Leon Blvd. • Coral Gables, FL 33134

NONPROFIT ORG U.S. POSTAGE PAID MIAMI, FL PERMIT # 8124

Alpha-1 research studies enrolling Interested in joining a research study? The best way to learn about studies you might qualify for is to join the Alpha-1 Foundation Research Registry. They can notify you as new studies begin enrollment.

Here is a list of studies now enrolling volunteers:

Liver Studies The Alpha-1 Carbamazepine Study - This study is sponsored by the National Institutes of Health (NIH) and is investigating whether carbamazepine (CBZ), a drug which has been used safely for many years for seizures and depression, can reduce the severity of liver disease that occurs in Alpha-1 patients. This yearlong study is hoping to recruit Alphas with a ZZ or SZ genotype between the ages of 14 and 80.

Alpha-1 Foundation Liver Study - The Alpha-1 Foundation is funding a study to understand the natural history of liver disease in ZZ Alphas. This is a 5-year study that hopes to determine what causes liver disease and how liver disease progresses. There are three sites enrolling: St. Louis, MO, San Diego, CA and Boston, MA.

Lung Studies Hyaluronic Acid Inhalation Study - MatRx Therapeutics is sponsoring a Hyaluronic Acid Inhalation Study that will be focusing on treating the effects of Alpha-1 emphysema by using an inhaled therapy. The study plans to enroll adult Alphas between the ages of 18 and 80 with SZ, ZZ, SNull or ZNull genotypes diagnosed 28

with emphysema. The goal is to determine if the hyaluronic acid inhalation therapy improves markers of lung destruction in individuals receiving drug versus placebo.

Targeting Pulmonary Perfusion In Alpha-1 Antitrypsin Deficiency - The Alpha-1 Foundation is sponsoring a research study at Columbia University in New York, NY. The study plans to enroll subjects 40 years and older with Alpha-1 Antitrypsin Deficiencyassociated lung disease, PiZZ phenotype. The study evaluates whether aspirin improves pulmonary blood flow in persons with Alpha-1 Antitrypsin Deficiency.

SPARTA - Grifols Therapeutics is sponsoring a study to investigate a study drug called Alpha-1 MP to discover if it is safe and effective at slowing down the progression of lung damage in severely deficient Alphas. This study will look at two different doses of the study drug as well as a placebo over a 3-year period. Multiple medical centers around the United States are currently recruiting Alphas.

Glassia - Shire is sponsoring an augmentation therapy research study. This study is being conducted to see if there are any differences in the symptoms and side effects experienced when receiving a study drug Glassia with a high particle number versus a low particle number, and how the immune system may react to the study drug. Glassia’s ability to increase the Alpha-1 Proteinase Inhibitor (A1PI) levels in the lungs of patients with Alpha-1 Antitrypsin Deficiency (AATD) will also be examined.

For more information about these studies or to enroll in the Alpha-1 Research Registry, visit alphaoneregistry.org 1.877.2.CURE.A1 (228.7321)