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.
Disclaimer
Read more
Show less
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.
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.
Get updates
Get notified about this study
Sign up to get updates when this study changes or when new studies for GENETIC DISEASE are added.
By submitting, you agree to our Terms of use
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
Show contact details
Enter your email to view the contact information for this study.
By submitting, you agree to our Terms of use
Study contacts
-
Contact
Phone: •••-•••-•••• Email: •••••@•••••
-
Contact
Email: •••••@•••••
Locations
-
Boston Children's Hospital
RECRUITINGBoston, Massachusetts, 02115, United States
Contact Phone: •••-•••-•••• Email: •••••@•••••
Contact Phone: •••-•••-•••• Email: •••••@•••••