Actively Recruiting
Delineating the Molecular Spectrum and the Clinical, Imaging and Neuronal Phenotype of Chopra-Amiel-Gordon Syndrome
Led by Boston Children's Hospital · Updated on 2026-02-17
125
Participants Needed
1
Research Sites
431 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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 records, patient photographs, genetic test results, neurobehavioral and quality of life questionnaires from individuals with confirmed or suspected CAGS at annual research visits. Participants may also complete standardized research neurobehavioral assessments, research EEGs, and sample collections at each visit. This data will be maintained on a secure research database. Samples collected will be used for functional testing and the generation of iPSC cell lines, for neuronal reprogramming and phenotyping.
CONDITIONS
Official Title
Delineating the Molecular Spectrum and the Clinical, Imaging and Neuronal Phenotype of Chopra-Amiel-Gordon Syndrome
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Participants must have a variant in ANKRD17 classified as variant of uncertain significance (VUS), likely pathogenic, or pathogenic
- Participants with a known diagnosis of CAGS have a disease-causing (likely pathogenic or pathogenic) ANKRD17 variant supported by a clinical genetic report
- Participants suspected of having CAGS must have a VUS in ANKRD17 and clinical features of CAGS supported by a clinical genetic report
- Participants with a VUS in ANKRD17 must have this variant supported by a clinical genetic report
You will not qualify if you...
- No evidence of a disease-causing or potentially disease-causing ANKRD17 variant on a clinical genetic report
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
Boston Children's Hospital
Boston, Massachusetts, United States, 02115
Actively Recruiting
Research Team
A
Abigail Sveden, MS, CGC
CONTACT
J
Jillian O'Toole, MS, CGC
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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