About Gorlin Syndrome Alliance Patient Registry

About Gorlin syndrome

Gorlin syndrome (basal cell nevus syndrome) is a rare genetic disease that affects both males and females of all races from birth. The prevalence is 1 per 31,000-60,000. The syndrome affects multiple organs and is characterized by multiple cutaneous basal cell carcinomas, keratocystic odontogenic tumors in the jaw, and meningioma/medulloblastoma in the brain. Ophthalmologic manifestations can present as congenital blindness, cataracts, hypertelorism, and strabismus. Other abnormal manifestations include macrocephaly (large skull), bifid ribs, frontal bossing, cleft palate/lip, pectus excavatum, syndactyly, hypoplastic thumbs, and cardiac/ovarian fibromas, hydrocephalus, and ventricular asymmetry. The pathophysiology is due to a mutation in various tumor suppressor genes (PTCH1, PTCH2, SUFU) and these mutations can be inherited as an autosomal dominant pattern or as a result of de novo mutations. Due to the multiple organ involvement, patients’ quality of life is adversely affected.

Study Aims

The primary objective of the Gorlin Syndrome Alliance Patient Registry (GSAPR) is to conduct a longitudinal natural history study that will result in a comprehensive understanding about the natural course of Gorlin syndrome and characteristics of its symptoms and manifestations. Other registry objectives include the following:

• Provide an online platform for participants (or caregivers) to self-report their medical and demographic information about Gorlin syndrome (GS).
• Develop a communication platform within the Gorlin Syndrome Alliance Patient Registry (e.g., to notify participants of research studies and clinical trials; send out inquiries, etc).
• Characterize and describe the Gorlin syndrome population as a whole, enhancing the understanding of disease prevalence, genetics, phenotype and additional characteristics of Gorlin syndrome, as well as the rate of progression of disease charactreristics.
• Assist the development of better care for Gorlin syndrome patients.
• Be a case-finding resource to be used for researchers to study the pathophysiology of Gorlin syndrome; to retrospectively collate intervention outcomes; and to design future studies of novel therapies for Gorlin syndrome.


Some Frequently Asked Questions

Who is the Gorlin Syndrome Alliance?

The Gorlin Syndrome Alliance is a national 501 (c) 3 organization who thoughtfully supports, comprehensively educates, and aggressively seeks treatments and a cure for Gorlin syndrome, its manifestations and sporadic BCCs. The organization has a strong desire to build upon and strengthen our alliance between patients, medical professionals, the pharmacological industry, professional staff, and lay leadership while continuing our commitment to provide strong emotional and informational support to our members.

What is the purpose of the Gorlin Syndrome Alliance Patient Registry?

One of the most important purposes of the Gorlin Syndrome Alliance Patient Registry is to bring the Gorlin syndrome community together and collect data which could be used to create therapeutics and improve the quality of life for patients. Some other goals of the Gorlin Syndrome Alliance Patient Registry are to:
• Conduct a prospectively-planned natural history study that will result in the most comprehensive understanding of Gorlin syndrome and its progression over time.
• Characterize and describe the Gorlin syndrome population as a whole.
• Assist the Gorlin syndrome community with the development of recommendations for standards of care.
• Assist researchers studying the pathophysiology of Gorlin syndrome.
• Assist researchers studying interventional outcomes.
• Support the design of clinical trials for new treatments.

What is an Institutional Review Board (IRB)?

Any board, committee, or other group formally designated by an institution or investigator to review, approve the initiation of, and to conduct periodic review of research involving human subjects. The primary purpose of such review is to assure the protection of the rights and welfare of the human subjects. Also known as Ethics Committee (EC).

What is a Patient Registry?

A patient registry is an online data system that systematically collects, stores, and retrieves patient data for analysis in research studies. The GSAPR serves to:

What types of data will be collected in the GSAPR?  Is the data secure?

The GSAPR collects data on the following topics:

The GSAPR Registry follows strict government guidelines to assure patient information is protected. The registry platform is served over HTTPS, providing encryption of traffic to prevent eavesdropping and man-in-the-middle attacks. Communication between the registry platform application server and the database are also encrypted.

Who can join the study?

This study is open to anyone who has a Gorlin syndrome diagnosis.

Is there a cost to participate?
There is no cost to the patient to join this study. The Gorlin Syndrome Alliance absorbs the cost of the registry for its members. 


You can view a complete list of FAQs here.

Click here for Registration Instructions.