Feb. 1, 2018: Patients Are Key to Rare Disease Day at NIH
There are about 7,000 diseases officially defined as “rare,” or affecting fewer than 200,000 people in the U.S.; only a few hundred of these diseases have any approved treatment. Added together, these disorders are anything but rare: They affect 25 million people in the U.S., and approximately 50 percent of these patients are children. Most clinicians go through their entire careers without seeing a patient with one of these rare diseases; thus, patients and their families struggle first to get an accurate diagnosis, and then to get proper care and treatment, all while coping with frequently debilitating and costly illnesses.
NCATS is deeply engaged in finding breakthrough approaches to all aspects of this urgent and oft-neglected problem. One of the approaches we feel has the most potential is to turn the usual paradigm of diagnostic and treatment development on its head, by putting the ultimate consumers of these products — patients and their families — at the head of the line of consideration in research projects, versus at the end. For many reasons, patients have traditionally been brought into the translational projects late in the process; not surprisingly, this has led to interventions that are not well-suited to the needs and realities of actual patients — and, ultimately, to translational failure. As one of my first directives as NCATS director, I therefore exhorted the Center’s scientists to involve patients in every project we do, to test the hypothesis that such involvement will make translation more relevant and effective.
I am glad to report that NCATS now partners with patients and their caregivers and advocates at every stage of the translational science spectrum, with the goal of not only improving research efficiency and effectiveness, but also developing “best practices” for patient involvement in translational research — that is, a translational science of patient engagement. Patients were principal drivers in the construction of the NCATS Toolkit for Patient-Focused Therapy Development. They also partner with the Rare Diseases Registry, or RaDaR, Program to build registries to increase understanding of the characteristics and progression of a disease, improve the design of clinical trials to study a disorder, and help select meaningful study endpoints to evaluate. To increase public and research community awareness of these disorders, we have promulgated the perspectives of individual patients, such as Alani Daniels and Marcela Ferrada.
Our “patients first” approach will be on display March 1 of this year during Rare Disease Day at NIH, which is co-sponsored by NCATS and the NIH Clinical Center. “Patients and Researchers — Partners for Life” is the guiding principle for NIH’s annual event that connects patients and their support groups with scientists, clinicians and policymakers to discuss collaborative research efforts that are making a difference. Based on feedback from last year’s participants, we are incorporating new formats that facilitate greater audience participation. If you are able to travel to the NIH campus in Bethesda, Maryland, for this event, please register here; if you are unable to join us in person, please join us via webcast.
Most important, know that every day is rare disease day at NCATS. For example, our support helped the Primary Immune Deficiency Treatment Consortium, part of our Rare Diseases Clinical Research Network, address the high incidence of a genetic condition in the Navajo Nation. In addition, through our Therapeutics for Rare and Neglected Diseases program, we collaborated to advance a new gene therapy for a muscle disorder.
See you on March 1!
Christopher P. Austin, M.D.
Director
National Center for Advancing Translational Sciences