Understanding Chopra-Amiel-Gordon Syndrome and its effects

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study aims to create a registry for individuals with confirmed or suspected Chopra-Amiel-Gordon Syndrome (CAGS) to explore the range of symptoms, brain imaging changes, and learning difficulties associated with the disorder. Participants will provide medical and family histories, MRI records, photographs, and genetic test results, with a subset undergoing standardized neurobehavioral assessments. The collected data will be securely maintained for further analysis, and sample collection for functional testing and neuronal reprogramming will be offered to participants.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* Participants must have a variant in ANKRD17 with a classification of VUS, likely pathogenic, or pathogenic
* Participants with a known diagnosis or CAGS have a disease-causing (likely pathogenic or pathogenic) variant in ANKRD17 evidenced by a pre-existing clinical genetic report.
* Participants with a suspected diagnosis of CAGS must have a variant of uncertain significance in ANKRD17 evidenced by a pre-existing clinical genetic report and clinical features of CAGS
* Participants with a VUS in ANKRD17 must have a variant of uncertain significance in ANKRD17

Exclusion Criteria:

* No evidence of a disease-causing or potentially disease-causing variant ANRKD17 variant on a pre-existing clinical genetic report.

Where it's running

• Boston Children's Hospital
  Boston, Massachusetts, United States Recruiting

Study contacts

• Study coordinator: Abigail Sveden, MS, CGC
• Email: Abigail.sveden@childrens.harvard.edu
• Phone: 617-919-5214

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.