Each year since 2009, the National Institutes of Health (NIH) Clinical Center and National Center for Advancing Translational Sciences (NCATS) has hosted Rare Disease Day at the NIH to participate in the global observance. The theme this year was Research. Earlier this month, I attended the event and heard several inspiring presentations from a range of rare disease stakeholders. Dr. Christopher Austin, Director of NCATS, introduced the tone for the day with his statement, “This is a special day that we look forward to because of the community it brings together− scientists, physicians, regulators, policymakers, members of Congress, and most importantly the patients we serve”. Dr. Francis Collins, Director of the NIH, reflected on the gene discovered for cystic fibrosis in 1989. Because of the combination of basic science, patient advocates and the private sector, some 90% of patients with cystic fibrosis may now have the opportunity of a highly effective drug therapy just from the molecular understanding of the disease. Dr. Collins’ remarks motivated the audience, “If we are going to reach the goal of 1000 therapies for 2027 we can apply what was done for CF also for rare diseases without taking so many years. We have to think bigger before taking 30 years to get there”.
As I listened to updates from stakeholders regarding their achievements and current initiatives, I found that it evident that the collaboration of patients and researchers is critical to continue to make advancements in rare disease treatment.
Here are some key messages from the event:
An Unprecedented Opportunity to Advance Gene Therapies for Rare Diseases
Approximately 30 million Americans are currently living with a rare disease. There are more than 6,000 identified rare diseases, many others undiagnosed, and less than 500 of those diseases have any treatment. Gene therapy is particularly relevant to rare disease patients, as more than 80 percent of rare diseases have a known monogenic (single-gene) cause. Traditional small molecule drugs often work by minimizing symptoms rather than curing the disease. Gene therapy has the potential to correct underlying genetic defects, offering a cure rather than simply managing symptoms.
Several panels focused on the advancement of gene therapy for rare diseases. One panel, in particular, discussed the emphasis of how critical patient insights are to advancing gene therapy to treat rare diseases and how they have been critical in addressing research gaps and advancing gene therapy forward. Kristin Smedley, President of Curing Retinal Blindness, shared her own experience as a mother of two sons who are blind due to a rare genetic degenerative disease, CRB1 retinal disease. She emphasized the importance of considering patients early in clinical development and integrating outcome measures that matter to the patient. Kristin also stressed the importance of setting expectations, “I don’t need gene therapy to help my child be able to read print but it sure would be nice if they could see enough to navigate a college campus more conveniently”. Because of continued collaborations between patients, caregivers and scientists, clinicians, and industry it was evident that there is hope in advancing research to develop new therapies but to identify therapies earlier to make a greater impact.
The Face of Rare Diseases
One thing that really resonated throughout the day was the presence of patient advocates, caregivers, and patients. I was able to connect with so many individuals passionate about their work−whether it was creating more education/awareness to support early understanding of the disease, the patient journey, or getting funding for research. In particular, what was striking was to meet an advocacy leader local to my area−Ellyn Miller, founder of the organization Smashing Walnuts. Ellyn’s daughter, Gabriella Miller died in 2010 at the age of 10 from childhood brain cancer. The legacy of Gabriella’s passion to raise support for research into childhood illnesses is apparent in the work that continues through the organization. The “Gabriella Miller Kids First Research Act” is a direct example of how hope is being brought by action in bringing more research funding to support the advancement of treatment via research for pediatric cancer. For any direct stakeholder in rare disease research or patient care, it really leaves a powerful message that cannot be forgotten in our work –the hope visible in each patient advocate was a powerful reminder.
The Next Generation has a Powerful Voice
By far the most compelling panel was the afternoon panel comprised of young patient advocates. Not only are these young patient advocates involved with continued advocacy work with The Children’s Inn at the NIH, but they are also passionate about using their individual experiences as either a patient or carrier of a rare disease to support research, early diagnosis, access to treatment, or even integrate social media and technology as a powerful tool in amplifying their voice in the rare disease community.
It was a very impactful session and drove home the importance of considering the ways a patient is impacted so that we can really understand each patient’s journey. Understanding the day-to-day hardship that rare-disease patients deal with is imperative to clinical trial enrollment. This is especially important in studies with pediatric and caregiver components and most importantly as clinicians and researchers we need to ensure we are really asking the patient critical questions about their disease as often parents are asked about how their child is feeling. In particular, Shira Strongin, Founder of Sick Chicks an organization dedicated to uniting and empowering women with illnesses and disabilities but also an undiagnosed patient herself spoke about how when she was younger doctors would ask her mom how she was feeling. “Even as a young adult when doctors don’t direct questions to me it’s bothersome as my mom can’t describe pain”. The patient voice is powerful and valid for research. Shira’s experience and the patient journey shared by each panel member was indicative of how important each individual voice is and how collectively they are making significant contributions that not only empower the next generation but also re-invigorate those of us involved in advancing treatment. Through this collaboration and understanding of each patient as an individual, research can bring hope.
UBC’s Patient and Physician Services team works with patients and caregivers to assess the feasibility of clinical protocols and better understand small patient populations. We are on the ground helping alleviate trial-related patient and caregiver burden by coordinating travel to study visits through our concierge service and providing home health study visits. By working with patient advocates and utilizing social media, we are able to connect people who suffer from similar diseases and speed drug development by building awareness of clinical trials.