This year, the National Organization for Rare Disorders (NORD) held its annual Breakthrough Summit from October 16-17 in Washington, D.C.
During the Breakthrough Summit, NORD celebrated its 40th anniversary and provided unique insights into advances and transformations within the rare disease community.
Day One: NORD Breakthrough Summit
Keynote speakers included:
Rixys Alfonso (rare mom) and her son Devin Alvarez. Devin, now 26, was born with Sprengel deformity, a rare congenital disorder. At one point, the orthopedic surgeon gave Devin a terminal diagnosis. But that wasn’t enough for Rixys, who pursued additional care and enrolled Devin in a clinical trial for the Titanium Rib Project. When it comes to advocating, Rixys said:
“Don’t let anybody tell you that your voice doesn’t count. When one door closes, open a window.”
Alex Flipse. In 1998, Alex Flipse lived in a small rural town in Texas. After giving birth to her third child, she found herself fatigued, lethargic, short of breath, and like her heart was beating out of her chest. Doctors kept turning her away. Says Alex:
“I’m not sure if it’s because I was poor, Mexican-American, in a small town, or just a young woman, but I was dismissed dozens of times when I visited the doctor. I knew I was dying. I was 20 years old and didn’t know if I’d see my 30th birthday. When I was finally diagnosed with pulmonary fibrosis, the years of misdiagnosis had killed my ability to breathe. The Orphan Drug Act created the incentive to create the drug to save my life.”
Casey McPherson. Musician, rare disease father, and founder of the To Cure a Rose Foundation spoke about his daughter’s HNRNPH2 diagnosis. He shared a video of Rose and their family that tugged on my heartstrings. Before singing a song that he had written for Rose, Casey shared:
“When Rose was diagnosed, I was faced with this question. Was I brave enough? Was I strong enough? Was I enough to change the status quo for Rose? And as I looked into her eyes, I knew that I had no choice. I may not feel brave, or enough, but I have to try. Rose teaches me that being someone that changes things, having the bravery to take risks, isn’t about arriving somewhere. It’s about making a conscious decision to say I am going to try. I am going to struggle through it. I am going to move mountains.”
Industry leaders shared insights, lessons, and thoughts about the particular challenges and opportunities of working in rare disease. Dr. Eric Dube, PhD (Travere Pharmaceuticals) shared that rare disease drug development requires a leap of faith, a perspective shared by Stephen Uden (Rallybio), who shared:
“Drug discovery, development, and availability is not for the faint-hearted. It’s a process that has an obvious fundamental scientific risk.”
Sumitomo’s Myrtle Potter also shared her own experience as a rare disease parent. After her son was diagnosed, she kept asking physicians what they could do next. She shared:
“The physicians told me that my son would never be able to place an order at McDonald’s so I might want to institutionalize him. My god, I lived that. We had nowhere to go. I had to figure out how to navigate the healthcare system for my baby. So when I think about patient engagement and the patient journey, I think: do I have any patients that are living through what I went through? Because that’s my standard. As long as I have a breath in this space, nobody will ever live the life I lived for tens of years.”
The Impact of the Inflation Reduction Act on the Rare Community
This session focused on pricing, access, and policy—as well as the impact of the IRA on orphan product development and patient access to care. Conor Sheehey, the Senior Health Policy Advisor for the Senate Committee on Finance, noted:
“That goal of making drugs more accessible, more effective, and more affordable unites Congress.”
Updates from the NORD and Rare Disease Diversity Coalition (RDDC) Patients and Caregivers Barrier Survey
NORD’s Debbie Drell provided insights into the survey, showing that socioeconomic factors have a huge impact on health outcomes. The survey, which included data from 2,208 respondents (42% of whom were under-represented), showed that the top barrier faced was being overwhelmed from managing life, care, or caregiving responsibilities. Other barriers included feeling stressed, anxious, drained, or hopeless; not being able to afford the visit; doctors not taking the time to listen; housing instability or food insecurity; or difficulties filling out the forms or knowing what to do.
Moving DEI From Good Intentions to Effective Action
This session focused on understanding how to move from describing inequities in clinical research and patient care to taking effective action to address underlying issues. Said Joy Russell of Genentech:
“Patient population for trials should look like the patient population across the U.S. and globally. There are not enough diverse patients included in clinical trials and we should work together to unearth the barriers to access.”
Later sessions also included discussions on the new frontier of gene editing and the curative potential for rare diseases, and how to harness the power of AI from data to diagnosis to improve outcomes.
NORD Breakthrough Summit: Day 2
Research and Drug Development
Sessions in this track included What Makes a Rare Disease Research-Ready?, Strengths and Challenges of Non-Traditional Clinical Studies, and The Potential Impact of Drug Repurposing. These focused on preparing for research in the clinical sphere. As many people within the rare disease community know, it can be difficult to incentivize research in smaller, rare conditions. Research is critical in better understanding rare conditions.
Regulatory Perspectives in Rare Disease Medical Product Development
Stakeholders discussed the Best Practices in Stakeholder Communications to Foster Rare Disease Medical Product Development, followed by FDA Perspectives on Orphan Product Development and Addressing the Special Challenges of Medical Product Development for Rare Pediatric Diseases.
Diagnosis and Patient Care
In Supporting the Mental Health Needs of Patients and Families Affected by Rare Disease: What We Know & What We are Learning, Dr. Al Freedman, PhD noted:
“Mental health lags behind the focus on science, research, and medicine. There is power in numbers, so when we think of the ongoing mental health of our rare disease community members, we need to create a space of community, support, and understanding. To have industry partners that jump in with us and support these needs is critically important.”
During this session, Dr. Freedman spoke with Tom D’Amato (Director of Patient Advocacy, Horizon Therapeutics), Dr. Sheldon Garrison, PhD (Scientists, Rogers Behavioral Health), and Dr. Maureen Lyon, PhD (Clinical Health Psychologist, Professor of Pediatrics, Children’s National Hospital) about the social determinants of health, the commonality of PTSD in the rare disease world, the unmet needs of children with rare diseases in hospice care vs. those without rare disease, and the diagnostic delays.
This session was followed by The Power of the Collective: A National Network of Rare Disease Centers that highlighted the power of collective engagement and collaboration within the rare disease space.
Orphan Product Development
These sessions focused on orphan product development, its outlook and impact, and the unique challenges and rewards. In the first session, entitled The Short- and Long-Term Outlook for Orphan Product Investment, stakeholders and panelists provided more insight into the orphan product landscape and the future of research. Later, Erica Cischke, MPH (Vice President, Government Affairs, Alliance for Regenerative Medicine) moderated the Can We Overcome the Challenges Facing Cell and Gene Therapies? panel.
Missed the NORD Breakthrough Summit?
If you missed the 2023 NORD Breakthrough Summit, don’t worry—you can still join the Summit next year on October 21-22, 2024 in Washington, D.C. Check out nordsummit.org for more information.