NCATS director Dr. Christopher Austin speaks at Rare Disease Day, Feb. 28.
According to the Office of Rare Diseases Research (ORDR) at the National Center for Advancing Translational Sciences, there are an estimated 7,000 rare diseases that affect about 25 million Americans. About 80 percent of rare diseases are genetic in origin, and it is estimated that half of these diseases afflict children. Yet, there are just over 400 drugs approved to treat approximately 250 rare diseases.
To help mark the sixth annual international Rare Disease Day, NIH hosted 2 days of presentations and discussion in Natcher Auditorium Feb. 28 and Mar. 1. Led by ORDR and the Clinical Center, the event focused on the importance of collaborations among government agencies, academia, patient advocacy groups and industry in raising awareness and advancing rare diseases research.
Dr. Christopher Austin, NCATS director, gave opening remarks and discussed a renewed interest in rare diseases in the biomedical research community. He pointed specifically to the pharmaceutical industry’s interest in niche markets; opportunities for repurposing of approved drugs for rare and other diseases; better models for research design using small populations; and a growing public recognition that rare diseases represent a global public health issue.
Austin highlighted some of NIH’s collaborative rare disease research efforts, such as the NCATS Therapeutics for Rare and Neglected Diseases (TRND) program and NIH’s Undiagnosed Diseases Program. Rare disease efforts account for more than 11 percent—about $3.5 billion—of the overall NIH budget.
Austin called for increased integration among all rare disease researchers across the country and around the globe. “At NIH and throughout the world, there is an increased focus on rare diseases,” he said. “To make these efforts maximally productive for patients and science across the thousands of rare diseases, we must increasingly coordinate rare disease programs globally to allow them to leverage each other.”
The first day of the event also featured talks from partners at federal agencies, including Dr. Gayatri Rao, director of the Office of Orphan Products Development at the Food and Drug Administration, and Dr. Ann Pariser from the Center for Drug Evaluation at the FDA.
The day ended with a screening of Here.Us.Now, the Kauffman Foundation’s documentary about a family’s quest to navigate the drug development pipeline and find a treatment for Niemann-Pick type C, a rare progressive neurological disease.
Clinical Center director Dr. John Gallin says that the study of rare diseases yields insights into common ones.
The film features Austin explaining the need for innovation in the translational process. Since the film was made, the TRND program made it possible to successfully launch a phase 1 clinical trial at the Clinical Center to evaluate the medicine, called cyclodextrin, featured in the film. The trial began in January, based on research conducted by a TRND-led collaborative team of government and academic scientists, the pharmaceutical industry and patient support groups. The same team has identified another compound called delta-tocopherol, a form of vitamin E, as another potential treatment for this rare disease.
Dr. John Gallin, director of the Clinical Center, opened the second day of the event. He stressed that studying rare diseases is important for gaining insights into common diseases.
In addition, there were talks from patient groups including the Genetic Alliance and the National Organization of Rare Disorders. Such groups are critical in identifying opportunities for rare disease patients to participate in clinical research.
Sharon Terry, president and CEO of the Genetic Alliance, spoke about a new effort called Registries for All (Reg4All), a tool that allows patients to collect their own health information and share it with researchers depending on self-determined privacy settings. Reg4All was established through a partnership of the Genetic Alliance and a company called Private Access. The primary goal of Reg4All is to help revitalize clinical trials and speed cures for thousands of rare diseases.
“When we are talking about rare diseases and enrolling individuals in a cohort, we say we’re looking for needles in a haystack, and instead we believe that the haystack is made out of needles,” Terry said. “When given the right tools, people will participate in clinical research.”
During his address to the crowd of more than 300, Dr. Stephen Groft, ORDR director, painted a brighter future.
“This really is a good time for rare diseases research around the world,” he said. “I’m optimistic about the future of rare disease research because of increasing opportunities for meaningful interactions between public and private researchers, pharmaceutical companies and patient advocacy groups to learn about and discover treatments for rare diseases.”