Voice of Patient Report

On Friday, October 8, the Gorlin Syndrome Alliance convened the Voice of the Patient Forum, our community’s externally led patient-focused drug development (EL-PFDD) meeting to educate the FDA and other stakeholders on how Gorlin syndrome impacts your life or the life of your loved ones. In the six months leading up to the meeting, we made every effort to encourage everyone—patients and family members, at every stage of disease progression—to get involved. More than 261 individuals participated in the live, webcast event, and patients’ and family members’ testimony have been captured in our Voice of the Patient Report.

This landmark report documents the severe disease burden and unmet medical need in patients’ own voices. It includes written statements and transcripts which are summarized in the report and shared in full in the appendices. The report has been submitted to the FDA’s Division of Neurology Products, Office of New Drugs, for inclusion in the framework used to evaluate future FSHD therapies. Patients’ views carry great weight with the agency when it considers whether to approve a new therapy.

The Voice of the Patient report, video of the live webcast, medical expert Dr. Joyce Teng’s slides, and transcripts are posted on the GSA website below. The photo gallery in Appendix 5 is also available HERE. Please know that this contains images that some may find disturbing.

Our community owes a deep debt of gratitude to the patients and family members who courageously shared their stories.