OVERVIEW

The SPATA Foundation Patient Registry is a secure, centralized database that collects important health information from individuals affected by SPATA5 and SPATA5L1 disorders. This data helps researchers better understand the condition, identify patterns, and accelerate the development of treatments.​

​

Taking 20-30 minutes to enroll in the international SPATA Foundation Registry is one of the most important contributions you can make to advancing cures for these disorders. Have your loved one’s genetic report handy and plan on needing 20-30 minutes of focus time to fill out this form.

​

You will be able to log in and make changes and updates at any time.

​

The patient registry includes a consent form for you to read and sign, and then collects basic information including your loved one’s diagnosis, demographics, symptoms, healthcare utilization, diet modifications, test results, etc. This will take 20-30 minutes. Please have your loved one’s genetic report available.

WHAT IS A PATIENT REGISTRY?

A patient registry gathers information directly from families—such as medical history, symptoms, and disease progression—over time. This real-world data is critical for rare diseases, where every data point helps build a clearer picture of how the condition affects individuals.

OUR APPROACH

The registry is designed to be easy for families to participate in while ensuring data is securely stored and responsibly shared with approved researchers. By collecting standardized, high-quality data, we are creating a powerful resource that can support natural history studies, clinical trial readiness, and therapeutic development.

WHY IT MATTERS

For rare diseases like SPATA5 and SPATA5L1, data is one of the most valuable tools we have. A strong patient registry helps researchers identify meaningful endpoints, supports drug development efforts, and increases the likelihood of clinical trials. Most importantly, it ensures that every patient’s experience contributes to progress.

LOOKING AHEAD

As the registry grows, it will play a critical role in guiding research priorities, connecting families to future studies, and accelerating the path to treatments. Participation from our community is essential to making this possible.