Understanding Chopra-Amiel-Gordon Syndrome and its effects
Delineating the Molecular Spectrum and the Clinical, Imaging and Neuronal Phenotype of Chopra-Amiel-Gordon Syndrome
This study is creating a registry to learn more about Chopra-Amiel-Gordon Syndrome by gathering information on symptoms, brain scans, and learning challenges from people with the condition.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 125 (estimated) |
| Sex | All |
| Sponsor | Boston Children's Hospital Academic / other |
| Locations | 1 site (Boston, Massachusetts) |
| Trial ID | NCT05528744 on ClinicalTrials.gov |
What this trial studies
This observational study aims to create a registry for individuals with confirmed or suspected Chopra-Amiel-Gordon Syndrome (CAGS) to explore the range of symptoms, brain imaging changes, and learning difficulties associated with the disorder. Participants will provide medical and family histories, MRI records, photographs, and genetic test results, with a subset undergoing standardized neurobehavioral assessments. The collected data will be securely maintained for further analysis, and sample collection for functional testing and neuronal reprogramming will be offered to participants.
Who should consider this trial
Good fit: Ideal candidates include individuals with a known or suspected diagnosis of CAGS and a relevant genetic variant in ANKRD17.
Not a fit: Patients without evidence of a disease-causing or potentially disease-causing ANKRD17 variant will not benefit from this study.
Why it matters
Potential benefit: If successful, this study could enhance understanding of CAGS, leading to better diagnosis and management strategies for affected individuals.
How similar studies have performed: While this study builds on previous findings regarding CAGS, it employs a novel approach by incorporating standardized assessments to validate earlier observations.
Eligibility criteria
Show full inclusion / exclusion 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.
Where this trial is running
Boston, Massachusetts
- Boston Children's Hospital — Boston, Massachusetts, United States (Recruiting)
Study contacts
- Study coordinator: Abigail Sveden, MS, CGC
- Email: Abigail.sveden@childrens.harvard.edu
- Phone: 617-919-5214
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.