Nov. 18, 2021
Posted by Valaree DonFrancesco
Reading, PA, November 18, 2021—Today, the Gorlin Syndrome Alliance (GSA) and the National Organization for Rare Disorders (NORD)® launched the largest-ever study to research Gorlin syndrome, a rare disease that currently has no cure.
The new study, the Gorlin Syndrome Alliance Patient Registry (GSAPR), creates a platform for patients around the world to share information about Gorlin syndrome. Its purpose is to build an international resource to be used by scientists in future research.
“The GSAPR will help advance research by compiling data from individual patient’s experiences, putting those together to eventually find better treatments and, possibly a cure someday, for Gorlin syndrome,” says Julie Breneiser, Executive Director of the GSA, patient, and mother to two affected adults.
To help drive awareness and participation, the GSA will highlight the registry on GSA’s website and use social media campaigns to recruit and encourage participation from the GSA patient community.
“Our goal is to enroll as many patients, or their parents or legal guardians, as possible,” said Breneiser. “The success of the registry is dependent upon community participation. By participating, we are giving the gift of hope for the future to one and other.”
The GSAPR is a natural history study that consists of electronic surveys to collect information about the patient experience and disease progression. Patients, caregivers or guardians can enter information from anywhere in the world. The data is made anonymous and stored securely in an online portal called a registry. The GSA may share the anonymous data with fully vetted individuals or institutions conducting research or clinical trials, as approved by the study’s governing board that includes scientists, doctors and patient advocates.
The GSA is launching the study in collaboration with NORD, an independent nonprofit that built its natural history study platform as part of its mission to help identify and treat all 7,000 rare diseases. The GSA is a member of NORD, and the organizations work together to eliminate the challenges that rare disease patients face.
“Patient-powered registries are changing the landscape of rare disease research,” said Stephanie Christopher, NORD’s Associate Director of Research Programs. “By building strong partnerships within the community and with leading scientific experts, NORD’s Registry Program is well-positioned to address knowledge gaps and accelerate the development of discoveries that save lives. We are so pleased to welcome the Gorlin Syndrome Alliance as a partner in our IAMRARE® Registry Community!”
Gorlin syndrome is a rare disorder that can affect many organ systems in the human body. This syndrome is caused by a genetic mutation of the tumor suppressor gene (PTCH) found in the hedgehog signaling pathway. The mutation is either inherited or the result of a spontaneous mutation at conception. Approximately 75% of affected persons today have a parent or relative with Gorlin syndrome. Affected individuals can have a wide variety of manifestations, the most common being basal cell carcinoma (BCC). Other manifestations include jaw cysts (keratocystic odontogenic tumors. or KCOTS), pits of the palms and soles, enlarged skulls and prominent foreheads, benign skin cysts, calcifications in the midline of the brain, rib abnormalities, and spina bifida of the thoracic and cervical spine. Generally, Gorlin syndrome requires constant, repeated surveillance, frequent doctor visits, and countless surgeries. In addition to the medical complications, individuals with Gorlin syndrome may be subjected to psychological issues including feelings of isolation, low self-esteem, and depression due to the rareness of the syndrome and physical appearance of their skin. Gorlin syndrome is a rare genetic disorder that occurs in approximately one out of every 31,000 people. For more information, visit https://gorlinsyndrome.org/research/gsa-registry/ or join the study at gorlinsyndrome.iamrare.org.
About the Gorlin Syndrome Alliance
The Gorlin Syndrome Alliance is a national 501(c)3 organization who thoughtfully supports members who are directly affected by the condition, comprehensively educates them as well as those who entrusted with their care, and supports the work of all who are aggressively seeking treatments and a cure for Gorlin Syndrome and its many manifestations. The organization has a strong desire to build upon and strengthen our alliance between patients, medical professionals, the pharmacological industry, professional staff and leadership while continuing our commitment to provide strong emotional and informational support to our members.
About National Organization for Rare Disorders, Inc. (NORD)
The National Organization for Rare Disorders (NORD) is the leading independent advocacy organization representing all patients and families affected by rare diseases in the United States. NORD began as a small group of patient advocates that formed a coalition to unify and mobilize support to pass the Orphan Drug Act of 1983. Since then, the organization has led the way in voicing the needs of the rare disease community, driving supportive policies, furthering education, advancing medical research, and providing patient and family services for those who need them most. Together with over 300 disease-specific member organizations, more than 15,000 Rare Action Network advocates across all 50 states, and national and global partners, NORD delivers on its mission to improve the lives of those impacted by rare diseases. Visit rarediseases.org.