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

Launched by BOSTON CHILDREN'S HOSPITAL · Sep 1, 2022

Keywords

ClinConnect Summary

This clinical trial is focused on understanding Chopra-Amiel-Gordon Syndrome (CAGS), a genetic condition that can affect how the brain develops and functions. Researchers want to create a registry to collect information about people with confirmed or suspected CAGS. They will gather details like medical and family history, brain scans (MRIs), and genetic test results to better understand the symptoms and brain changes associated with this syndrome. Some participants may also take part in special assessments to evaluate their learning and behavior.

To be eligible for this study, participants should have either a confirmed diagnosis of CAGS or be suspected of having it, supported by genetic testing. Specifically, they should have a known harmful variant in a gene called ANKRD17 or a variant of uncertain significance along with symptoms of CAGS. The study is open to individuals of all ages and genders. Participants can expect their information to be kept secure and may have the opportunity to contribute to research that could lead to a deeper understanding of this syndrome.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • Participants must have a known or suspected diagnosis of CAGS
• • 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 CAGS evidenced by a pre-existing clinical genetic report and clinical features of CAGS
• Exclusion Criteria:
• • No evidence of a disease-causing or potentially disease-causing variant ANRKD17 variant on a pre-existing clinical genetic report.