Embracing the Role of Patients in Treating Rare Diseases

Andrea C. Furia-Helms, M.P.H.
Acting Director, Patient Affairs Staff, Office of Medical Products and Tobacco

Stakeholders told us about the need for improved coordination and support for patient engagement across the medical product centers. In response, the Office of the Commissioner, Office of Medical Products and Tobacco (OMPT) created a new Patient Affairs Staff (PAS) in December 2017. The new office is able to better coordinate agency-wide and cross-center patient engagement projects by working closely with the medical product centers and other offices across the FDA to complement and support ongoing patient engagement efforts and identify new opportunities for incorporating patient perspectives into regulatory discussions.

I am the Acting Director of the PAS, a role that is often described as an advocate for the advocates, providing a voice within the FDA for patients, caregivers and families who have concerns with medical products. That includes patients who want to help FDA reviewers better understand their experiences with disease and treatment burden, issues around benefit-risk tolerance, and how their disease impacts their quality of life.

Working with rare diseases and conditions has a special meaning for me. I began my federal career at the National Institutes of Health directing a program to educate communities about reducing the risk of sudden infant death syndrome (SIDS). I worked with parents and families who were devastated by the sudden loss of their baby and often tormented with self-blame, thinking they had done something wrong in caring for their children. This meant collaborating with families who turned their pain into help by establishing foundations, forums, and support groups to educate others about SIDS.

The past 10 years I directed the FDA’s Patient Representative Program in the FDA’s Office of Health and Constituent Affairs. The program provides an opportunity for patients and caregivers to participate in regulatory meetings representing their disease community and where they can offer input during discussions on medical product development and review, regulatory policies, and post-marketing issues. In this role, I interviewed and recruited numerous candidates who have experience with a rare disease. Hearing those tragic and heart-wrenching stories provided me with a deeper understanding of the struggles those families face.

The PAS has been busy since I took over as acting director. It recently published a Federal Register Notice requesting nominations for the new Patient Engagement Collaborative (PEC), a joint effort with the Clinical Trials Transformation Initiative (CTTI). The PEC will be an ongoing, collaborative forum for the patient community and regulators to discuss topics regarding increasing patient engagement in medical product development and regulatory discussions at the FDA. The FDA received more than 200 nominations, an overwhelming response from patient communities, including representatives from rare disease communities.

And FDA Commissioner Scott Gottlieb, M.D., recently announced that the agency is establishing a memorandum of understanding with the National Organization for Rare Disorders (NORD) to pilot a series of rare disease listening sessions. PAS will facilitate these sessions with NORD to incorporate early engagement, which will provide an understanding of disease burden and impact for medical product development programs.