Scientists launch Largest-Ever study of Ultra-Rare genetic syndrome
NCT ID NCT05528744
First seen Jun 27, 2026 · Last updated Jun 27, 2026
Summary
This study aims to better understand Chopra-Amiel-Gordon Syndrome (CAGS), a rare genetic disorder. Researchers will track symptoms, brain images, and learning challenges in 125 people with confirmed or suspected CAGS over time. No treatments are being tested—the goal is to collect data to help future research.
What this could mean
Our plain-language read of the trial. This is informational only — not medical advice or a prediction.
- What this could lead to
- If successful, this study will provide a detailed understanding of CAGS symptoms and progression, which could guide future care and research.
- What could go wrong
- This is an observational study, not a treatment trial. It will not test any therapy, so direct benefits for participants are unlikely.
This is an AI summary of the original study and may miss details. Read our disclaimer.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
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Boston Children's Hospital
RECRUITINGBoston, Massachusetts, 02115, United States
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