Patient groups oftentimes serve as the authority on a specific disease when it comes to advancing research.


“Without patient perspective, there is no good medical product development,”
Rachel Sherman, the FDA’s principal deputy commissioner proclaimed during her
keynote at last week’s NORD’s Rare Disease & Orphan Products Breakthrough

Setting the tone for the two-day conference, the FDA’s second in command to
commissioner Scott Gottlieb addressed over 700 leaders from The Food and Drug Administration (FDA), National Institutes of Health (NIH), industry, patient groups, payers and research institutions that gathered to explore new and innovative ways in which patients and caregivers are helping drive progress for the rare disease community.

There are approximately 7000 rare diseases that affect 25 to 30 million people in
the United States alone; more than fifty percent of whom are children. Given the unique challenges not only patients but also their caregivers, healthcare providers and families face, there was a consensus among the audience that these stakeholders should be deeply involved in advancing the understanding of rare diseases.

One of the summit’s key panels focused on one of the greatest challenges patients face — receiving an accurate diagnosis. “The undiagnosis rate of rare diseases is astronomical”, stated Shannon Resetich, North America Head of Rare Disease at Sanofi Genzyme. This may be due to multiple reasons, including the low awareness of rare diseases, the confusion of symptoms with those of more common disease and lack of access to diagnostic testing according to the panel on stage — William Gahl, clinical director of the National Human Genome Research Institute at the NIH, Ellen Matloff, CEO of My Gene Counsel, Jaimie Vickery, vice president of policy and advocacy for Cure SMA and Cederroth Helene, founder and president of Wilhem Foundation.

A second important conversation was led by P.J. Brooks, director of the Rare Disease Program at the National Center for Translation Sciences at the NIH, discussing the importance of patient-centric clinical trials to enhance recruitment and retention. “We have to be much more flexible and adaptive in our interaction with patients [during clinical trials] than we have been before”, Margot Johnson, VP, Rare Disease & Vaccines TA Lead at Pfizer pitched in. Dr Christopher Austin, Head of the National Center of Translational science at the NIH on the other side highlighted the unique partnership between rare disease patients/caregivers and researchers: “Rare Disease Patients bring three important things that clinical researchers don’t have — focus, relevance and urgency.” In fact, “patients are the experts on their disease,” Caroline Kruse of PDSA points out, highlighting that patient groups oftentimes serve as the authority on a specific disease when it comes to advancing research.

The FDA has also started recognizing this new role of patients and caregivers. Each and every FDA representative called for ‘early and often’ interaction with the government institution. In addition, The Patient Affairs Staff (PAS) are working closely with each of the medical product centres to ensure that patient, caregiver and advocate voices are included in regulatory discussions. As part of this direction, the FDA is actively making efforts to improve the organization’s navigation in order for patients to “really truly have a central home”, Sherman concludes.