NCT05528744 Delineating the Molecular Spectrum and the Clinical, Imaging and Neuronal Phenotype of Chopra-Amiel-Gordon Syndrome
| NCT ID | NCT05528744 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Boston Children's Hospital |
| Condition | Genetic Disease |
| Study Type | OBSERVATIONAL |
| Enrollment | 125 participants |
| Start Date | 2022-08-27 |
| Primary Completion | 2030-12 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 125 participants in total. It began in 2022-08-27 with a primary completion date of 2030-12.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief 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.
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 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.
Contact & Investigator
Maya Chopra, MBBS, FRACP
STUDY CHAIR
Boston Children's Hospital
Frequently Asked Questions
Who can join the NCT05528744 clinical trial?
This trial is open to participants of all sexes, studying Genetic Disease. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT05528744 currently recruiting?
Yes, NCT05528744 is actively recruiting participants. Contact the research team at Abigail.sveden@childrens.harvard.edu for enrollment information.
Where is the NCT05528744 trial being conducted?
This trial is being conducted at Boston, United States.
Who is sponsoring the NCT05528744 clinical trial?
NCT05528744 is sponsored by Boston Children's Hospital. The principal investigator is Maya Chopra, MBBS, FRACP at Boston Children's Hospital. The trial plans to enroll 125 participants.