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Scientists launch study to unravel rare genetic disorder

NCT ID NCT05528744

First seen Feb 28, 2026 · Last updated May 23, 2026 · Updated 11 times

Summary

This study aims to collect information from 125 people with confirmed or suspected Chopra-Amiel-Gordon Syndrome (CAGS), a rare genetic condition. Researchers will track symptoms, brain images, learning challenges, and genetic data over time. The goal is to build a detailed registry and create cell lines to better understand the disorder, not to test a treatment.

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This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.

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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.