Rare Diseases

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RARE DISEASES An Independent Supplement by Mediaplanet to USA Today

Shaquem Griffin

The Seahawks linebacker talks about his long road to the NFL

Online Learn about the strength it takes to be a rare disease parent Why there’s hope for patients with GIST and other rare cancers

Why the Patient Voice Is Key to Progress in Rare Disease Research The National Organization for Rare Disorders (NORD) knows the power of patient-focused initiatives. Here’s what the organization is doing to change the world. Since the NORD Research program launched over 30 years ago, our belief in the power of research to create meaningful change for people living with rare diseases and their families has only strengthened. Today, patient registries — studies based on patient-reported information used to collect and store data about a disease or condition, procedure, treatment, or medical device — are changing the landscape of rare disease research. Patient registries provide valuable information about diseases to help scientists develop treat-

ments by identifying candidates for clinical trials, building connections among patients, s uppor t i ng s pec i f ic research goals, and helping to develop standards of care for patients. In 2014, NORD developed and launched the IAMRARE™ registry program with guidance from patients, caregivers, researchers, and clinicians, as well as key opinion leaders from regulatory agencies, including the U.S. Food and Drug Administration (FDA) and National Institutes of Health. Through building strong partnerships within the community and working with leading scientific experts, NORD’s registry program is well-positioned to address knowledge gaps and help facilitate the development

Vanessa Boulanger M.Sc., Director of Research Programs, National Organization for Rare Disorders

of discoveries that can save lives. Identifying challenges In 2019, NORD and Trio Health published “The Power of Patients: Informing Our Understanding” based on natural history data collected in NORD’s registry program. In the book, six rare disease organizations partnered to share patient stories and first-hand experi-

ences to complement findings from the natural history studies, bringing to light many of the challenges and frustrations faced by the rare disease community. Making the most of the valuable information collected through patient registries with the goal of speeding much-needed rare disease drug development is at the heart of a new project called the Rare Disease Cures Accelerator-Data and Analytics Platform (RDCA-DAP). Funded by the FDA and in collaboration with the Critical Path Institute, RDCA-DAP represents a new hope for treatments for the millions of Americans impacted by rare diseases. RDCA-DAP means developing the cures of tomorrow today, if patients, caregivers, advo-

cacy groups, scientists, clinicians, and the industry all work together. Together we are strong Through these and other initiatives, including FDA Listening Sessions and disease-specific, patient-focused drug development meetings that culminate in valuable “Voice of the Patient” reports researchers and drug developers can use, patients and caregivers are increasingly playing a central role in working toward a brighter future. With 90 percent of the more than 7,000 rare diseases still lacking an FDA-approved treatment, that progress is vital to the lives of the more than 25 million Americans affected by rare diseases. As we say at NORD, “Alone we are rare. Together we are strong.” n

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How Patient Advocates Are Remaking Drug Development

The Push for Innovations in Rare Disease Treatments There are over 7,000 rare diseases in the world today, affecting up to 30 million Americans. Researchers have traditionally steered their focus away from these diseases, but that’s changing.

By harnessing the power of community-driven analysis, this mother helped start development on a novel treatment for a rare disease.


hen Lara Pullen’s son was diagnosed with Prader-Willi syndrome, a rare genetic condition that causes morbid obesity in children, she began to read through what scientific studies she could find. Pullen, who has a doctorate in immunology, knew her way around research papers. As she read, it struck her that despite widespread notions of the disease, the data paints a different story. Endocrinologists have typically treated Prader-Willi because of its hallmark associations with intense appetite, diabetes, and obesity. However, it is a complex condition that involves muscle weakness, developmental and intellectual disability, sleep apnea, and daytime sleepiness. Everything pointed Pullen back toward the nervous system. One thing that caught her attention was that the histamine H3 receptor, which is found in the brain, plays a role in regulating sleep and wake states, hunger, alertness, anxiety, and REM sleep. Finding links Pullen argued Prader-Willi syndrome symptoms are similar to what is seen in narcolepsy with cataplexy, a rare condition involving daytime sleepiness and sleep apnea. It so happens that in 2016, European regulators approved pitolisant, a treat-

ment for narcolepsy that targets the histamine H3 receptor. Pullen reasoned the drug might benefit patients with Prader-Willi. Pullen’s case was strengthened by the work of TREND Community, a platform for scouring patient insights from social media that found a link between Prader-Willi syndrome and the symptoms of daytime sleepiness. Maria Picone, co-founder and CEO of TREND Community, has a daughter with PraderWilli syndrome. In a clinical vignette in the March-April 2019 issue of the Journal of Pediatric Pharmacology and Therapeutics, Pullen and her co-authors reported that pediatric patients with Prader-Willi who used pitolisant had decreased daytime sleepiness and improved cognition. They suggested the drug had the potential to relieve symptoms associated with the condition. Pullen notes how their work shows how caregivers looking at real-world data can change the understanding of a disease, how novel technology such as TREND Community’s software can capture critical data about the patient and caregiver experience, and how a growing willingness among drugmakers and regulators to work through new pathways can bring treatments to rare disease patients. n Daniel S. Levine, Author, “NEXT: Imagining the Future of Rare Disease”

These days, they’re listening to patients, families, and medical providers to drive the development of innovative new drugs and therapies for people with rare diseases. “What we’re doing today is laying the groundwork for understanding how in five or 10 years from now, we will have the tools and the capability to actually cure individuals,” said Jeremy Levin, CEO of Ovid Therapeutics, Inc. For example, Angelman syndrome (AS), a rare neurological and genetic disorder, affects 1 in every 12,000-20,000 people. In most cases, people with AS have a deficiency of the E3 ubiquitin protein ligase of chromosome 15. People with AS can have delayed development, movement and balance issues, and severe learning disabilities. Help is on the way Currently, there are no FDA-approved therapies for AS, but new research is showing promise. Thousands of patients with diseases like AS and Fragile X syndrome (a genetic condition marked by learning disabilities and cognitive impairment) have participated in research studies to find transformative treatments for their diseases, and these potential medicines have tested favorably for safety and bioavailability profiles. Treatments will offer hope for those with certain neurodevelopmental disorders, such as AS and Fragile X, by targeting the disruption of tonic inhibition, a central physiological process of the brain. At least one treatment has advanced to the final stages of clinical evaluation for AS, and it has earned Orphan Drug and Fast Track designations from the U.S. Food and Drug Administration. n Kristen Castillo MEDIAPLANET • 3

This Community Is Empowering Scientists to Tackle Rare Diseases PHOTO: DANIEL SOÑÉ

Uplifting Athletes uses its sports platform to change the way people learn about rare diseases through awareness and fundraising. When I was a senior at Syracuse University, I was one of the best — if not the best — punters in the country. I had it all and my only unknown in the world was with which NFL team I would sign. But that was the year everything changed. As I was completing my final season at Syracuse in 2010, I was diagnosed with a rare form of brain cancer for which there is no cure. It’s been more than nine years since my diagnosis and my life has been a miracle. I was able to turn 30. I was able to get married. And I am now the executive director of Uplifting Athletes,

an organization that was built to leverage the platform of the athletic community to lift up the rare disease community. Strength in numbers Dealing with any disease is frightening and this is especially true for someone diagnosed with a rare disease, because, for so many, there are no answers. That can leave patients and their caregivers feeling isolated and lonely. I decided that I wanted to share my story so other families dealing with rare diseases know that no matter what life throws at you, you are not alone, and you have the option to get up and keep moving forward. It’s not always easy or simple to figure out what to do, or what the next step to take is, but the key is that you try to move forward.


At Uplifting Athletes, that is exactly what I do every single day. Founded in 2007, Uplifting Athletes fulfills its mission to inspire the Rare Disease Community with hope through the power of sport, leveraging a powerful network of more than 20 college football student-athlete-led chapters, Uplif t ing Ambassadors, and Team UA participants. Making a difference Since its inception, Uplifting Athletes has raised more than $5 million to support its mission and its charitable programs through a variety of annual activities. One of our most notable activities is the Uplifting Athletes Young Investigator Draft presented by CSL Behring. The Young Investigator Draft is

the result of Uplifting Athletes’ ongoing commitment to cultivating resources that accelerate scientific advancements for rare disease treatments and potential cures while facilitating the next generation of rare disease researchers. It is through the Young Investigator Draft and the grants we distribute that we fund collaborative and translational rare disease research. We hope that through this initiative we are able to work toward finding treatments and potential cures for the entire rare disease community. The Young Investigator Draft stage provides a platform to celebrate these scientists and the importance of their research, as well as the impact it has on the rare disease community. This

allows them to continue this important work that will help those who need it most — the rare disease patients. Promotion leading up to, during, and following our first two Young Investigator Drafts reached more than 3 million people on social media and we are looking for an even bigger impact from the 2020 event. Our goal is to bring a bigger group of sports fans together from around the world in 2020 to tackle rare diseases as a community of hope. Keep your eyes peeled for #WeTackleRare to help us expand our fan base and join us at the 2020 YID on March 7. To learn more about us and our programs, visit upliftingathletes.org. n Rob Long, Executive Director, Uplifting Athletes

Come Join the Weeklong Celebration of Medical Genetics

The Path to a Cure: Finding Hope in a World of Rare Diseases

The second annual Medical Genetics Awareness Week will be celebrated March 17-21.

The last day of February is designated as Rare Disease Day, a day for patients, patient organizations, and disease foundations to come together to raise awareness for the 300 million people worldwide living with a rare disease. For my family and me, this day has special meaning. In 2002, my wife and I found out we were going to have a child with cystic fibrosis (CF) — a rare and fatal genetic disease that affects roughly 30,000 people in the United States and 70,000 globally. When our son was born, a CF diagnosis was a death sentence. Many patients never lived to 20. I wasn’t a doctor or scientist — at the time I was in the Massachusetts State Legislature — but the most important thing to me was saving my son’s life. I soon learned what that would entail. Buying a cure In most cases it takes a decade and over $2 billion to successfully bring a new drug to market. However, to even begin the development process, you must first raise awareness — a challenge for a disease that affects fewer than 200,000 patients nationally — then raise funds. So we committed our lives to raising awareness and


For rare disease patients, the path to a cure used to be a race against the clock. Today, we celebrate the progress that is saving lives.

money to fund CF research. In essence, we were trying to buy a cure for our son. I had been involved with the CF Foundation for some time before my son was born but, once he was diagnosed, all my effort went into supporting its cause. With extensive donations and support, the CF Foundation invested millions of dollars in a few biotech companies, one of which would eventually develop a drug to treat the underlying cause of the disease in 2012 — 10 years after my son was born. This drug instilled so much hope throughout the community but, unfortunately, it did not work for my son. He had a particular genetic mutation that would not respond to the course of treatment. We didn’t give up, we kept raising money, raising awareness, and advocating for treatment. Together we are strong In October 2019, the drug that would treat my son,

and 90 percent of CF patients, was approved by the FDA in what would be the single greatest day for my family. Like any rare disease advocacy group, the CF Foundation’s story is one of a kind. It is a resounding success story of a foundation that raised an incredible amount of money and awareness for a single rare disease, which ultimately led to several treatments that would change the course of CF and its impact on patients and their families. There are over 7,000 known rare diseases, only 5 percent of which have an approved treatment. On Rare Disease Day, we must celebrate the progress we’ve made but remind each other that we must keep investing in innovation to address the remaining 95 percent of rare diseases. Alone we are rare, together we are strong. n Bob Coughlin, President & CEO, MassBio

Through Medical Genetics Awareness Week, the American College of Medical Genetics and Genomics (ACMG) aims to promote awareness of the importance of medical genetics professionals, including medical geneticists, laboratory geneticists, genetic counselors, nurses, and physician assistants on the healthcare team. The theme of Medical Genetics Awareness Week is “Celebrating the Contributions of the Entire Medical Genetics Team to Patient Care.” We celebrate Medical Genetics Awareness Week to recognize the invaluable contributions medical genetics healthcare professionals make in the diagnosis, management, and prevention of genetic diseases — both rare and common — and the difference these professionals make in the lives of patients and families. Medical Genetics Awareness Week is also intended to educate other healthcare professionals, students, and trainees on who medical geneticists are, how they are trained, and what they do in the clinic and laboratory. This just in Dedicated medical genetics awareness web pages are brand new for this year and can be found at www.acmg. net/medicalgeneticsawareness. These pages offer a wide range of resources including tips on how to become an ambassador for medical genetics in your workplace and community, a resource tool kit with suggestions for medical genetics-related activities and tools for use on social media, and information on careers in medical genetics. Events related to Medical Genetics Awareness Week will be held during the ACMG Annual Clinical Genetics Meeting, March 17-21 in San Antonio, Texas. n Kathy Ridgely Moran, M.B.A., Director of Communications and Public Relations, American College of Medical Genetics and Genomics MEDIAPLANET • 5

How Shaquem Griffin Defied the Odds to Play Football at the Highest Level

Nearly half of all children diagnosed with a rare disease don’t live to see their fifth birthday, and those who do are riddled with physical and mental impairments that prevent them from leading a normal life. Shaquem Griffin, a linebacker for the NFL’s Seattle Seahawks, has defied those odds and more. Griffin, 24, was born with a rare birth defect called amniotic band syndrome, which caused him to experience severe pain in his hand. According to the National Organization for Rare Disorders, it affects between 1 in 1,20015,000 live births and the exact cause is unknown. When he was 4 years old, Griffin attempted to amputate his own hand with a kitchen knife to relieve the extreme discomfort he felt. Eventually, his parents and doctor decided medical amputation was the best choice. The rest is history. Now he’s the first person with one hand to be drafted into the NFL — a feat Griffin credits to his strong support system and a positive, determined mindset. “When it came the time when people doubted me or told me I couldn’t do anything, I told them, ‘I don’t believe you. I know I can do this,’” Griffin said. Making a mental shift Griffin said he wasn’t always this way. When he was young, he had to learn how to be positive. “My dad and mom used to tell me, ‘You can’t let anybody make excuses for yourself or let anybody tell you what you can’t do,’” he said, adding that his mom has always 6 • FUTUREOFPERSONALHEALTH.COM

been a source of strength for him within his tight-knit family. In the psychology of football, he said, there’s a term for this: positive self-talk. And it’s a practice Griffin employs regularly. “For me, it was anything you go up to, even through negativity, I have a choice to make,” he explained. “I think any kid who wants to be able to do whatever they want has to say, ‘You know, I got this.’” On his off days, Griffin still remains positive and tries to focus on selfimprovement. “It’s all about knowing what small thing I can do that’s gonna put me in a better place, a better situation. What small thing can I do to make my day better?” he said. Inspiring others When the Seahawks drafted Griffin in 2018, he said the news was a lot to take in at first, as he never pictured himself becoming a role model. He is grateful, however, and humbled by the opportunity. He said he’s excited about the prospect of inspiring others who may think of their physical differences as limitations. “I’m ready to show others there’s no excuse for not achieving your dreams and fighting for what you want,” he said. For others with physical differences who are striving to overcome seemingly insurmountable odds, Griffin offered a piece of advice: “Keep fighting, keep chasing your dreams, and keep working. “You gotta know you can do it, you gotta want to do it, and you gotta fight for it. The easy way out isn’t always the right way out,” Griffin said. “All that adversity shapes you.” n Melinda Carter


Unwilling to let his physical differences stop him, Seattle Seahawks linebacker Shaquem Griffin fought to become the first one-handed NFL player. Now he’s inspiring others to overcome their own adversities.

Rare Disease Parents Must Fight Hard for a Miracle O



epilepsy that is refractory to existing drugs.


What is the best moment of your life so far? For me, it was meeting my twins Maxwell and Riley when they were born in March 2017. Until then, I didn’t realize a human heart was capable of that much love. Their health and happiness became my life’s focus but I had no idea how hard I’d have to fight on Maxwell’s behalf. When Maxwell was 4 months old, we noticed he wasn’t developing at the same pace as his sister.

He showed intent, but couldn’t use his hands and would barely move. This otherwise happy boy showed little interest in grasping toys or exploring the world around him. Fear turned to panic in June 2018 when doctors led us to a cold diagnosis room at Children’s Hospital and our worst fears were confirmed. Genetic tests revealed Maxwell had a rare neurological disease, with only 34 confirmed cases in the world. It was called SLC6A1 and there was very little known about the condition, except that it causes developmental delay, a movement disorder, and speech ataxia, and that it progresses into a debilitating form of


Securing funds, advocating research, and raising awareness are critical steps for creating treatments. In this paradigm, rare disease patients are often left to fight for their own miracles.





Developing treatment I couldn’t accept this nightmare for my son. I left my career in finance to determine the best path forward, starting with cold-calling 200 scientists across the globe in three months. Through perseverance and determination, I found a path toward a solution. A group of scientists at the University of Texas Southwestern in Dallas was willing to develop and test the therapy that would help Maxwell and every other child with this condition. The research


would also help advance treatments in epilepsy, autism, and schizophrenia. Like other parents in my position, I am fighting for a miracle. I take solace in knowing the journey to a solution is underway and that all the hard work was worth it. Not only for Maxwell but for all the children like him. n Amber Freed, Co-Founder and CEO, SLC6A1 Connect

Rare Disease Day 2020 We are proud to join others around the world to help raise awareness of rare disease. At Retrophin, we come to work every day to do something extraordinary that can make a difference in the lives of people living with rare disease. We are committed to collaborating with the rare disease community to identify, develop and deliver life-changing therapies as soon as possible. Through our portfolio of approved products and promising pipeline in rare nephrology and hepatology, we strive to help people achieve the best possible outcomes today and tomorrow. Retrophin.com | @RetrophinRare