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Frequently Asked Questions

Gorlin Syndrome Alliance Natural History Study

FAQ for the Gorlin Syndrome Alliance Natural History Study (NHS)

Thank you for your interest in Gorlin Syndrome Alliance Natural History Study (NHS). Please see below some frequently asked questions. If you have additional questions that are not listed, please contact us!

Have you ever wished for better treatments for Gorlin syndrome—or felt frustrated by how slowly research seems to move? You have the power to change that. By joining the Gorlin Syndrome Alliance Natural History Study (NHS), you play a vital role in advancing research. Your participation provides scientists with critical, real-world data that can lead to new discoveries and improved care.

This is your chance to shape the future of Gorlin syndrome. Please enroll to share your experiences, treatments, symptoms, milestones, and daily challenges, to help yourself and others:

  • Gain a deeper understanding of the full spectrum of Gorlin syndrome
  • Identify trends that reveal new insights and areas for further study
  • Foster collaborations with academic institutions and pharmaceutical companies
  • Guide the development of care guidelines and best practice
  • Support clinical trials by connecting participants with relevant research studies
  • Keep personal medical information organized and secure in one place
  • Accelerate progress toward new treatments and solutions

What is this study about?

A patient registry is a secure database that collects consistent information from people who share a specific medical condition. This information helps researchers better understand the condition, track its progress, and support the development of new treatments.

One of the main purposes of a registry is to conduct what’s called a natural history study—a long-term study that follows people over time to learn how a disease develops and changes. This kind of research looks at factors such as genetics, environment, age, and lifestyle to understand how these elements affect symptoms, disease progression, and treatment outcomes. Insights from these studies can lead to improved patient care and help connect participants to clinical trials.

Natural history studies often run for several years, sometimes even decades, because they track changes and outcomes over time.

Every research study has key roles:

The Study Sponsor is the organization responsible for managing, overseeing, and funding the study. For the NHS, that sponsor is the Gorlin Syndrome Alliance, which ensures the study meets ethical and regulatory standards.

The Principal Investigator (PI) is the lead researcher who designs and directs the study. The GSAPR is fortunate to have two PI’s – Joyce Teng, MD, Pediatric Dermatologist at Stanford University Health, and Jean Pickford, Registry Director at the Gorlin Syndrome Alliance.

Study participants are the individuals who share their information through the registry. Some participants may complete surveys themselves, while others may have someone else (such as a parent or caregiver) do so on their behalf.

A legally authorized representative (LAR)—like a parent, grandparent, or guardian—can provide consent for someone who cannot do so on their own, such as a minor.

The information collected in the NHS includes details such as basic demographics (age, gender, location, etc.), medical history and diagnostic information, treatments and how the disease progresses over time, management of care, and quality of life measures.

Before joining, participants go through an informed consent process, which means they receive clear information about the study, what participation involves, and how their privacy will be protected. Participation is completely voluntary, and individuals may withdraw at any time.

The Gorlin Syndrome Alliance covers all costs associated with the registry, so there is no charge for participants. The registry is open to anyone with a confirmed Gorlin syndrome diagnosis, and enrollment will remain open for at least five years, with the option to extend.

Why is the study so important?

The natural history study is more than just a database—it’s a powerful tool for progress. Every piece of information shared helps build a clearer picture of what life with Gorlin syndrome is really like.

Because Gorlin syndrome is rare, researchers often struggle to find enough data to study the condition in depth. The registry changes that by bringing together information from people all over the world in one secure place. It helps understand the condition better, identify research gaps, support clinical trials, and improve care.

How do I enroll?

Click the Register button above and follow the prompts:

  • Create your account and password
  • View terms, conditions, and consent
  • Begin with first survey, then submit when completed, and next will appear
  • You can save your spot and return at any time to finish all surveys
  • You will receive reminder emails from time to time to return to your account and update with new or changed information

Is my data secure?

The NHS is hosted on a secure online platform that allows participants from anywhere in the world to share their information safely. The NHS operates on the National Organization for Rare Disorders (NORD) IAMRARE® platform, which follows strict industry and government standards to protect participant data. NORD stores GSA and Participant NHS Data on NORD encrypted servers and/or encrypted servers of third-party vendors hosted in Canada. Regular back-up at commercially acceptable intervals is provided. These servers meet industry standards and are compliant with US and international regulations, including GDPR.

For individuals living outside the United States who choose to share information about themselves, the same protections for privacy and confidentiality are offered as in the United States. Residents of the European Union and Switzerland have additional particular rights related to personal information. This information is disclosed within the informed consent document. If an individual signs this document, they acknowledge that they are disclosing information that would otherwise be private. Privacy laws in an individual’s country may have different protections than those provided in the United States.

NHS participants who are residents of the European Union and Switzerland are entitled to:

  • Request to obtain access to and rectification or erasure of personal data;
  • Receive personal data in a portable, readily-accessible format;
  • Restrict or withdraw permission for the processing of personal information; and
  • Lodge a complaint with an appropriate supervisory authority.

There are no physical risks associated with participating in the NHS. However, as with any online research study, there is a small potential risk of a breach of confidentiality. The NHS minimizes this risk by following strict privacy and security measures, including:

  • Removing all personal identifiers (such as names or contact details) from any data that is shared or released.
  • Limiting access to the internal codes that connect participants to their registry information.
  • Restricting access to data only to approved registry investigators and researchers who have been reviewed and approved by the NHS Advisory Board.
  • Maintaining ongoing compliance with federal privacy laws and best practices for data protection.

The Gorlin Syndrome Alliance (GSA) is the owner of both identifiable and de-identified NHS data and determines how and with whom the data can be shared. A limited set of de-identified data from all NORD registries may also be used by NORD for rare disease research and advocacy efforts that benefit the broader community.

One of the main goals of the NHS is to share information about Gorlin syndrome quickly, responsibly, and securely to help drive research forward. In keeping with standards set by NORD and the Institutional Review Board (IRB), de-identified data may be shared with qualified researchers who have legitimate research goals.

Requests for access to NHS data are reviewed by the NHS Advisory Board, which includes clinical and research experts, patients, and patient advocates. Researchers must submit an application outlining their project’s purpose, research questions, methods, and funding sources. The Advisory Board reviews and approves applications based on their scientific quality, potential value, and relevance to Gorlin syndrome.

The NHS is hosted and maintained by NORD, which provides the secure cloud-based platform and technical oversight. The Gorlin Syndrome Alliance manages the day-to-day operations, including registry communications, procedures, and collaboration with researchers.

Who is NORD – the National Organization for Rare Disorders, Inc.?

NORD, an independent nonprofit, is leading the fight to improve the lives of rare disease patients and families. We do this by supporting the rare community, its people, and organizations. We work together to accelerate research, raise awareness, provide valuable information, and drive public policy that benefits the estimated 25-30 million Americans impacted by rare diseases.

Learn more about NORD at https://rarediseases.org/.