On April 29, 2019, the Food and Drug Administration (FDA) convened a public meeting entitled “Patient Perspectives on the Impact of Rare Diseases: Bridging the Commonalities.” This meeting was attended by people with rare diseases, their caregivers and family members, patient advocates, industry representatives and FDA staff. FDA had proposed this meeting as part of its ongoing efforts to broaden the inclusion of voices of patients with rare diseases into all phases of drug development and review. The specific focus of this meeting was to try and ascertain how rare diseases may share commonalities in their symptomatology and challenges. Dr. Janet Maynard, the Director of the FDA Office of Orphan Products Development, said in her opening remarks:
While the differences between diseases are critically important, it is also important to assess commonalities to synergize product development in rare diseases.
On May 29, 2019, Hyman, Phelps, & McNamara, P.C.’s (HP&M’s) James Valentine and Larry Bauer submitted a comment to FDA’s docket for the meeting that summarized their analysis of the 16 externally-led Patient Focused Drug Development (PFDD) meetings that HP&M has been involved in helping to plan and moderate. After each PFDD meeting, a Voice of the Patient report is written that summarizes the findings from the meeting. These reports are in the public domain and can be accessed by anyone wanting to learn about how specific rare diseases affect patients and families. HP&M systematically reviewed the 12 reports that were currently available to explore what commonalities might exist between rare disease patient groups and what symptoms are unique.
The Voice of the Patient reports nicely capture patients’ experiences by directly quoting them.
A man in his fifties with pachonychia congenita (PC) used the analogy of a bank account to describe the careful planning required for daily activities due to limited mobility-how the plantar pain of PC controls his life: “This one (bank account) isn’t one filled with money, but instead it’s filled with a number of steps that I can physically walk each day before tremendous pain sets in for me. And just like a checking account filled with money, I spend it very wisely or try my best.
The themes that emerged as commonalities mirrored, in large part, the themes that were heard at the FDA meeting. While each rare disease has a different etiology and disease course, it was surprising how many core symptoms are shared across diseases. The main areas of shared symptoms and disease burden included fatigue, sleep disturbance, pain, mobility impairment, and decreased ability to perform activities of daily living (ADLs). Further exploration of these commonalities will potentially support future medical product development by informing trial designs and endpoint development that can be used across rare diseases.