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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 Patient Registry (GSAPR) Natural History Study, 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.

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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

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 GSAPR, 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 GSAPR 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.

The GSAPR 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.

  1. Create an account for yourself or your loved one here - https://gorlinsyndrome.iamrare.org/
  2. Click the Register button 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
    • When fully enrolled and all surveys are completed, you will be eligible to receive a gift card 
    • You will receive reminder emails from time to time to return to your account and update with new or changed information

 

The Gorlin Syndrome Alliance Patient Registry (GSAPR) is hosted on a secure online platform that allows participants from anywhere in the world to share their information safely. The registry operates on the National Organization for Rare Disorders (NORD) IAMRARE® platform, which follows strict industry and government standards to protect participant data.

All information submitted to the registry is encrypted and transmitted over HTTPS, the same secure technology used by banks and healthcare systems. Communications between the platform’s servers and its database are also encrypted to prevent unauthorized access. In short—your data is safe.

There are no physical risks associated with participating in the GSAPR. However, as with any online research study, there is a small potential risk of a breach of confidentiality. The GSAPR 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 GSAPR 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 registry 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 GSAPR 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 GSAPR data are reviewed by the GSAPR 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 registry 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.

Enroll Today To Join The Hundreds of Patients Who Are Changing Their Lives and Generations To Come

By joining the GSAPR, you’re contributing to vital research that can shape the future of care, improve understanding of Gorlin syndrome, and bring the community closer to better treatments.

What do the experts say?

Experts agree the GSAPR Natural History Study is key to understanding Gorlin syndrome over time. Hear from the researchers, doctors, patients and caregivers about why this study matters and how it’s shaping future care.

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Elena Hawryluk, MD, Pediatric Dermatologist
As a dermatologist taking care of patients with Gorlin Syndrome, I encourage my patients to participate in the registry so their symptoms and experiences are appreciated in the context of their disease. This type of research helps us all have a better understanding of Gorlin Syndrome. Thank YOU for taking the time to share and teach us about your symptoms and experiences so we can take better care of all of our patients!
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Allen Bale, MD, PhD, Clinical Geneticist
Isolating the gene for Gorlin syndrome and developing the first rational drug therapy was a 10-year process that depended on luck and anecdotal information to find families with the disorder who were interested in research. Had the GSAPR been available at that time, the process would have been shortened by years and many more affected individuals would have learned early on about cutting-edge treatment options.
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Jed Gorlin, MD, MBA, Chief Science Officer
As the son of Dr. Robert Gorlin, I know that he strongly encouraged patients not to feel isolated and to share their experiences with others. The goal of this registry is to give you both access to patient support groups as well as the latest options for therapy.
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Elizabeth Billingsley, MD, Dermatologist
We all want more treatment options for people with Gorlin syndrome. Without current data on what the problems and the burdens are, researchers, pharmaceutical companies, and regulators do not know how to help. If people of all ages with Gorlin syndrome complete the GSAPR, we can get that information! It will help improve quality of life.
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John Wood, Gorlin Syndrome Patient

It’s important for everyone who can to complete the registry, providing the personal data and experiences that companies need to develop treatments and work toward a cure. The process is simple and step-by-step, and taking a little time to participate is a meaningful way to contribute to this cause.
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Beth Spiegel, Mother of Affected Son

As the mom of a teen with Gorlin syndrome, I often meet medical providers who have never heard of the disease—my son is frequently their first patient. I’ve had to quickly learn how to advocate for him and explain his treatment options.

The GSAPR Natural History Study will help more providers understand Gorlin syndrome and give researchers the information they need to develop better treatments—and hopefully, one day, a cure.