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We need you to help us speed the pace of Gorlin syndrome research

Join the Gorlin Syndrome Alliance Patient Registry (GSAPR) to share your journey of living with Gorlin syndrome and its manifestations and play a critical role in a creating a better tomorrow for patients everywhere.

Have you ever wished for a better treatment for Gorlin syndrome? Are you sometimes disappointed with how “slow” the research moves? By participating in the GSAPR, you are helping fuel the research process! Investigators working within Gorlin syndrome will now have access to a pool of information they need to achieve medical breakthroughs.

The GSAPR, also known as a Gorlin Syndrome Natural History Study, will become the comprehensive national registry for Gorlin syndrome.  The GSAPR is designed to house all Gorlin syndrome patients in the US in one location in their entirety. The GSAPR will replace and supersede all other existing Gorlin syndrome registries, including CHORI, Stanford, and the BCCNS Patient Registry established in 2018 when the Gorlin Syndrome Alliance was previously known as the BCCNS Alliance.

The GSA has created a Frequently Asked Questions section that will answer many of your inquiries and provide more details about the enrollment process. If you would prefer to speak with someone on the GSAPR Team, please <<email – registry@gorlinsyndrome.org>> or call the national office at 267.689.6443.

The GSAPR will be hosted in partnership with the National Organization for Rare Disorders (NORD); an independent non-profit patient advocacy organization dedicated to individuals with rare diseases and the organizations who serve them. The GSA will provide periodic updates and results with the discoveries made possible with this impactful data.

If you are a patient, or the primary caretaker of a patient living with Gorlin syndrome, we encourage you to share your experience by enrolling the GSAPR.

CLICK HERE to enroll today!

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Frequently Asked Questions

A patient registry is a collection of standardized information about a group of patients who share a condition and is used for a variety of purposes such as conducting natural history studies and supporting disease specific clinical trial recruitment.

A natural history study is a study designed to track the course of a disease over time and includes people who have a specific medical condition or disease and those who are at risk of developing such.  This method of research explores the disease in a comprehensive way and identifies demographic, genetic, environmental, and other variables that correlate with the disease and its outcomes.  Natural history studies have many potential uses such as patient care best practice developments and clinical trial recruitment.

According to the British Medical Journal, a longitudinal study follows subjects, “…over time with continuous or repeated monitoring of risk factors or health outcomes, or both. […] Most longitudinal studies examine associations between exposure to known or suspected causes of disease and subsequent morbidity or mortality.”1 Longitudinal research projects can extend over years or even decades.

The National Health Service defines a study sponsor as, “… the individual, company, institution or organization, which takes on ultimate responsibility for the initiation, management […] of and/or financing […] for that research.”2 The Study Sponsor ensures that the study is conducted in a reputable manner and upholds regulations as they apply to the study.

The Principal Investigator is the research group leader or, the person with the primary responsibility for the design and conduct of the research project or study.

According to the Mayo Clinic an IRB is, “[a] specifically constituted review body established to protect the rights and welfare of human subjects recruited to participate in biomedical or behavioral/social science research.”3 The oversight of an IRB ensures that, an online natural history study that collects and shares patient data to advance rare disease research, is ethical and safe.

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.

The data collected is uniform and includes but is not limited to

  • Socio-demographics
  • Medical and diagnostics
  • Treatment and disease progression
  • Management of care
  • Quality of life

Data is collected through a secure web-based system developed by the National Organization for Rare Disorders (NORD), an independent non-profit committed to the identification, treatment, and cure of all 7,000 rare diseases.  Study participants respond to questions grouped within a series of surveys developed per study standards and in collaboration with disease specific experts.

A study participant is the individual who takes part in a research study and whose information is collected for that research. Study participants may consent to enter and share their own personal data.

A reporter/respondent is an individual who completes the surveys on behalf of the patient/study participant, when they are unable to do so on their own behalf.

A legally authorized representative is an individual who, under law, has the ability to act on behalf of another person (such as a minor study participant).  The LAR may be a parent, grandparent, caregiver who has the legal authority to grant consent on behalf of another who has been invited to participate in research.

The Office for Human Research Protections (OHRP) states that, “… the informed consent process is the critical communication link between the prospective human subject and an investigator beginning with the initial approach of an investigator to the potential subject (e.g. through a flyer, brochure, or any advertisement regarding the research study) and continuing until the completion of the research study. […] The informed consent process involves three key features: (1) disclosing to potential research subjects information needed to make an informed decision; (2) facilitating the understanding of what has been disclosed; and (3) promoting the voluntariness of the decision about whether or not to participate in the research.”4

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

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

This registry will be open for five years with the option to renew registration. There is no date of termination or closure at this time.

The patient registry uses an online platform which allows participants to contribute data from anywhere in the world.

The data is stored on NORD’s registry platform system which adheres to industry standards regarding security protections.

Yes, the data is safe. The registry follows strict government guidelines to assure patient information is protected. The platform is served over HTTPS, which provides traffic encryptions so as to prevent eavesdropping and man-in-the-middle attacks. Communications between the registry platform application server and the database are also encrypted.

There are no risks of physical harm associated with participation in the study. Participation in the Gorlin Syndrome Alliance Patient Registry does involve the potential risks of a breach of confidentiality of medical information and associated privacy of participants.  Such risks will be minimized by ensuring adherence to applicable regulations and data security measures and by performing the following: (1) removing direct participant identifiers from information and data shared or released from the registry; (2) limiting access to linking codes assigned to the Gorlin Syndrome Alliance Patient Registry information; 3) and limiting access to information contained within the Gorlin Syndrome Alliance Patient Registry to registry investigators and researchers approved by the Advisory Board, and (4) Maintaining the Privacy and Confidentiality of Registry information.

The identifiable and de-identifiable data are owned by the study sponsor, the Gorlin Syndrome Alliance (GSA). The GSA decides how and with whom to share the data. A subset of the de-identified data collected across the NORD Registry Platform is available to NORD to support cross disease analysis and advocacy activities to members of the rare disease community as a whole.

One of the goals of this registry is to gather and disperse Gorlin syndrome information as quickly and securely as possible.  In agreement with the standards set by NORD and the IRB, we plan to share de-identified data with any researcher who asks for it for a legitimate reason. The GSA in collaboration with the Gorlin Syndrome Alliance Patient Registry Advisory Board (comprised of clinical and research experts, patients, and family advocates will review requests for access to de-identified data from researchers.  Investigators wanting to use the registry or contact participants will need to apply to the GSAPR Advisory Board for access.  The application will require information concerning:  Principal Investigator, aims and hypotheses of the proposed research, and where the research will be performed, and how the research will be funded.  The GSAPR Advisory Board will review and approve applications based on study quality, potential, and value to Gorlin syndrome.

The registry is maintained by NORD who hosts the registry on its cloud-based Platform and provides oversight and ongoing support of the system. The GSA provides the day-to-day management of their patient registry, including the development and adherence to the study procedures.

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.

NORD, a 501(c)(3) organization, is a patient advocacy organization dedicated to individuals with rare diseases and the organizations that serve them. NORD was founded by patients and families who marshaled grass-roots efforts to secure the passage of the Orphan Drug Act in 1983. Today, NORD represents the united voice of more than 250 rare disease-specific groups and thousands of patient advocates. Together, we are committed to the identification, treatment and cure of rare disorders through programs of advocacy, education, research and patient support services.  Learn more about NORD at https://rarediseases.org/.