Scientists launch long-term study to unravel rare genetic syndrome

NCT ID NCT05528744

First seen Feb 28, 2026 · Last updated May 09, 2026 · Updated 10 times

Summary

This study aims to better understand Chopra-Amiel-Gordon Syndrome (CAGS), a rare genetic disorder. Researchers will follow up to 125 people with confirmed or suspected CAGS over time, collecting medical history, brain scans, genetic data, and quality-of-life information. The goal is to create a detailed registry of symptoms and changes, and to grow special cells in the lab for further research. No new treatments are being tested.

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Contacts and locations

Study contacts

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

  • Contact

    Email: •••••@•••••

Locations

  • Boston Children's Hospital

    RECRUITING

    Boston, Massachusetts, 02115, United States

    Contact Phone: •••-•••-•••• Email: •••••@•••••

    Contact Phone: •••-•••-•••• Email: •••••@•••••

Conditions

Explore the condition pages connected to this study.