The top 5 ways the GSA advocated for those with Gorlin syndrome in 2022!
GSAPR: The Gorlin Syndrome Alliance Patient Registry was launched last November. We continue to ask affected individuals and parents / guardians to complete the short questionnaires. Data is de-identified and secure. It will lead to a greater understanding of the disease as well as research into more and better treatment options.
CLINICAL TRIALS: We are working closely with a pharmaceutical company on an ongoing clinical trial that is evaluating the safety and efficacy of QTORIN 3.9% Sirolimus Topical Gel for the prevention of basal cell carcinomas in people with Gorlin syndrome. We aim to share more news on clinical trial opportunities in 2023!
MEMBER SUPPORT: The GSA continues to provide in-person and virtual support. In 2022, Executive Director Julie Breneiser visited 7 cities and conducted “Jaunts with Julie” gatherings where members and families shared precious time together. We conducted a webinar, “Beyond the Creams and Cutting“, to teach the community about medications available to treat BCCs. Plans for 2023 include a national in-person meeting in Chicago June 22-25. Quarterly virtual town hall and community group meetings will remain on the calendar next year. A four-part webinar / podcast series is planned on children and families coping with Gorlin syndrome.
PUBLICATIONS: The report of the Externally Led-Patient Focused Drug Development meeting held for the FDA and stakeholders in November 2021, the “Voice of the Patient”, was completed and is available on the FDA & GSA websites. Our Executive Director and Board member / Co-Chair of the GSA’s Medical and Scientific Advisory Committee, pediatric dermatologist Dr. Elena Hawryluk were two of the three authors of an article entitled, “Patient and caregiver perspectives on delayed childhood Gorlin syndrome diagnoses” published in the September / October 2022 issue of Pediatric Dermatology.
RESEARCH: The Gorlin Syndrome Alliance published its first request for applications (rfa) of research into Gorlin syndrome. View the application HERE.