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

NCT05528744 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 125

Last updated 2026-02-17

No results posted yet for this study

Summary

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

Interventions

OTHER

Observational Study

No intervention. This is an observational study

OTHER

Sample collection only

Collection of blood and/or skin samples.

Sponsors & Collaborators

Principal Investigators

  • Maya Chopra, MBBS, FRACP · Boston Children's Hospital

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2022-08-27
Primary Completion
2030-12-31
Completion
2030-12-31

Countries

  • United States

Study Locations

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Entities

Diseases
Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05528744 on ClinicalTrials.gov