Self-advocacy is more prevalent than ever in health care, but in the rare disease space, it’s necessary. With so many different players involved in drug development—biotech pharma, advocacy programs, patient organizations, and physicians—the developmental process for rare disease therapies is complex.
However, at this year’s National Organization of Rare Diseases’ Rare Diseases & Orphan Products Breakthrough Summit (NORD Summit 2018)
held in Washington, DC, a panel of experts consisting of Christina Clark, director of development of the Batten Disease Support and Research Association; Tanisha Carino, executive director of FasterCures; Caroline Kruse, executive director of the Platelet Disorder Support Association; and Steve Aselage, CEO of Retrophin, discussed how research and drug development are being largely driven by rare disease patients themselves.
The session moderator, Christopher P. Austin, MD, director of the
National Center for Advancing Translational Sciences at the National Institutes of Health (NIH),
led the panel by first comparing rare diseases with different types of cancers, which can also be rare. While cancer is used as a general term is used to descrube the disease, which is then followed by a more specific term to define specific subtype, rare diseases often don’t even have a general term from which they can pivot.
Consequently, Dr. Austin claimed rare diseases are looking for a name to bring them together, such as how the word “cancer” does in the oncology space. Since the process is a collaborative effort though, it has to be approached like a team, which calls for everyone to be involved, according to Dr. Austin.
Dr. Austin added that government research in the rare disease space also requires a combined effort since it is dependent on patient involvement. “Developments rely on good relationships,” he said. He claimed patients bring 3 essential contributions to investigators and research—focus, relevance, and urgency.
When asked how patients can get a seat at the table of research and drug development, Kruse stressed that patients have to establish that they are the authority and experts on their disease.
Innovative and collaborative efforts from patient groups were also discussed as contributive efforts to research development. According to Clark, hosting conferences that help contribute to natural history databases, registries, bio samples, and the like, are essential, as is organizing the patient community in a way that helps fill the need for research. Making the rare disease community available is also key—even if it’s as simple as taking a Facebook poll about what the main issues are at hand for a specific rare disease.
Establishing natural history studies and registries in rare diseases, which also include consideration of secondary causes and diseases, were pointed out by Kruse, who was only echoed by Aselage. Clark pointed out that rare disease patients can help with these efforts by “being available and engaged early and often.”
In biomedical research, Carino emphasized the focus on clinical data and the data being collected in peer-to-peer networks, which will be very rich and important. However, she noted it’s not just about big data.
Coming up on its 2-year anniversary, the 21st Century Cures Act was also highlighted since it significantly promoted the role of patients as research partners. Through the act, which was passed in December 2016, power was put back into the patients’ hands, with the patient journey better communicated.
“I think that everybody in this room has had an incredible role to play with the 21st Century Cures Act,” said Carino. “It has made it easier for patients to be involved.”
Another commonly reflected sentiment among the panel was to “act locally but think globally” as many of the presenters agreed that numerous rare diseases are connected. On a biological level, they acknowledged that these diseases may be more similar than people realize (as is being done with the Human Genome Project, which is aimed at mapping out the entire human genome).
Regarding efforts to help connect rare diseases, Carino focused on the enormous technological shift in medicine as data is rapidly being collected, which is largely due to the enormous urgency to map human health.
“Patient feedback is vital though,” closed Kruse. “After all, it can change a study’s endpoint.”