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

Part of paid clinical trials in Boston, Massachusetts.

Sponsor
Boston Children's Hospital
Study ID
NCT05528744
Status
Recruiting
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Conditions

  • ANKRD17
  • CAGS
  • Chopra-Amiel-Gordon Syndrome
  • Genetic Disease

Eligibility Criteria

Sex
ALL
Age
N/A - N/A
Healthy Volunteers
Not accepted

Interventions

  • Observational Study — OTHER
    No intervention. This is an observational study
  • Sample collection only — OTHER
    Collection of blood and/or skin samples.

Study Details

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.

Key Dates

Start date
Aug 27, 2022
Status verified
Feb 2026
Primary completion
Dec 31, 2030
Completion
Dec 31, 2030

Study Design

Enrollment
125 participants (estimated)

Arms

  • Arm: Proband
    Study participants who have suspected or confirmed CAGS based on having a variant of uncertain significance, likely pathogenic variant, or pathogenic variant in ANKRD17 and clinical features of the condition.
  • Arm: Unaffected family members
    Family members of the proband who do not have an ANKRD17 variant.

Primary Outcome Measure

Research registry of molecular and phenotypic information related to CAGS [ Time Frame: 4-5 years ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
Boston Children's HospitalBostonMassachusetts02115
Maya Chopra, MBBS, FRACP
[email protected]
6179196258
Abigail Sveden, MS, CGC
[email protected]
617-919-5214

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By research site
Boston Children's Hospital· Boston, MA

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