Delineating the Molecular Spectrum and the Clinical, Imaging and Neuronal Phenotype of Chopra-Amiel-Gordon Syndrome
Recruiting
Observational Study
Genetic Disease
Chopra-Amiel-Gordon Syndrome
CAGS
ANKRD17
No Placebo Group
Every participant receives an active treatment — no one gets a placebo.
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
At a Glance
- Sex
- Any
- Study type
- Observational
- Participants needed
- 125 (estimated)
- Sponsor
- Boston Children's Hospital · Other
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About This Trial
The purpose of this study is to establish the longitudinal natural history of individuals with confirmed or suspected Chopra-Amiel-Gordon Syndrome (CAGS) to learn more about the range of symptoms, changes in the structure of the brain seen on imaging, and learning difficulties that individuals with this disorder may experience. The investigators will obtain medical history, family history, MRI rec…
Trial Locations
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Eligibility Criteria
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 rep…
Contacts