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Universal Rare Gene Study: A Registry and Natural History Study of Retinal Dystrophies Associated With Rare Disease-Causing Genetic Variants

Join a study on rare genetic retinal diseases.

Recruiting
4 years and older
All
Phase N/A

This study looks at eye problems called retinal dystrophies, which are caused by rare genetic changes. It has two parts: a Registry and a Natural History Study. The Registry collects genetic and health data from people with these rare genes. The Natural History Study follows the health changes over time in people with specific genes to learn more about how these genes affect the eyes.

If you join, your past genetic test results will be reviewed, but no new genetic tests will happen. If your genetic report matches the study's criteria, you'll join the Registry. Depending on your gene, you might get annual phone calls or be asked to visit the clinic more often.

Key Points:

  • Participants need to be 4 years or older with a specific genetic report.
  • Study involves regular phone calls or clinic visits over a few years.
  • No new genetic testing in the study; it's based on previous reports.

This study aims to help find better ways to treat eye problems caused by rare genetic changes.

Study details
    Inherited Retinal Degeneration
    Retinitis Pigmentosa

NCT05589714

Jaeb Center for Health Research

30 March 2025

Step 1 Get in touch with the nearest study center
What happens next?
  • You can expect the study team to contact you via email or phone in the next few days.
  • Sign up as volunteer  to help accelerate the development of new treatments and to get notified about similar trials.

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A clinical trial is a study designed to test specific interventions or treatments' effectiveness and safety, paving the way for new, innovative healthcare solutions.

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Participating in a clinical trial provides early access to potentially effective treatments and directly contributes to the healthcare advancements that benefit us all.

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The duration of clinical trials varies. Some trials last weeks, some years, depending on the phase and intention of the trial.

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