Sept. 25, 2017: Putting Patients in the Driver's Seat in Rare Diseases Research

An abiding anomaly in translation is that the people intended to benefit from an intervention are generally excluded from its creation. Drugs and other interventions intended to improve human health are consumer goods, and organizations that make other such goods (think toothpaste and clothing) involve potential consumers in every part of the creation of a new product. And when consumers identify needs that current products do not meet, they routinely start new companies to do so. 

These things have rarely happened in translation, with the unsurprising result that many medical needs remain unmet, particularly for rare diseases, and interventions that are developed may not meet the most important needs of patients. I believe that changing this historical practice is one of the translational science innovations with the greatest potential to get more treatments to more patients more quickly. In fact, one of my first directives to the NCATS staff on becoming director almost five years ago was to involve patients in every project we do from the beginning, and to develop the science of patient and community engagement, with best practices that can be disseminated to all doing translational research. 

Earlier this month, NCATS took its biggest step yet in achieving this vision with the release of the Toolkit for Patient-Focused Therapy Development on September 8 at a public meeting on the NIH campus. The Toolkit is a centralized portal of the “how-to” resources and tools that patient support organizations can use to advance translation for their diseases, from discovery though clinical trials, to regulatory and industry interactions, to post-approval access issues. And though the resources are focused on rare diseases, the approaches and tools are applicable to all diseases, both rare and common. Fittingly, the Toolkit was developed via a close collaboration between the rare diseases patient advocacy community and the NCATS Office of Rare Diseases Research. Please have a look, tell us what you think, and give us suggestions for improvements or tools not represented that we should add.

In related news, I am delighted to update you about the International Rare Diseases Research Consortium (IRDiRC), which I currently chair. IRDiRC brings together funding agencies, patient groups, companies, and scientists to coordinate and thereby accelerate progress in rare diseases research worldwide. Last month, new IRDiRC goals (PDF - 294KB) for the next decade were announced in a Nature commentary, and accompanying past reflections and future perspectives were published in Clinical and Translational Science. The goals include the accurate diagnosis of all patients with a rare disease within a year of their first consulting a physician, developing 1,000 new therapies for rare diseases, and creating methods to evaluate the impact of these efforts on rare disease patients. These goals are extremely ambitious but IRDiRC believes they are achievable via new globally collaborative team-approaches and the singular convergence of scientific opportunity and medical need in rare diseases.

Both NCATS and IRDiRC believe that translation is a “team sport”, and that with patients on the team, progress at every step of the translational science process will be more efficient, effective and relevant to the health of people living with diseases.  

Christopher P. Austin, M.D.
National Center for Advancing Translational Sciences