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Delineating the Molecular Spectrum and the Clinical, Imaging and Neuronal Phenotype of Chopra-Amiel-Gordon Syndrome

Who can join

All ages · All sexes

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.

About the study

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.

What is being tested

• Observational Study (other)
• Sample collection only (other)

Sponsor: Boston Children's Hospital · Participants: 125 · Started: Aug 27, 2022

Contact the study team

• Abigail Sveden, MS, CGC · Phone: 617-919-5214

Official record on ClinicalTrials.gov — NCT05528744

Locations in the U.S.

Conditions

• Genetic Disorders
• Rare Diseases

From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.