RECRUITING

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

Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

The purpose of this study is to establish a registry 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, and genetic test results from individuals with confirmed or suspected CAGS. A subset of participants will also undergo a standardized neurobehavioral assessment. This data will be maintained on a secure research database. Sample collection will be offered to participants for the functional testing and the generation of iPSC cell lines, for neuronal reprogramming and phenotyping.

Official Title

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

Quick Facts

Study Start:2022-08-27
Study Completion:2026-12-01
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT05528744

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:Not specified
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:No
Standard Ages:CHILD, ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. * Participants must have a known or suspected diagnosis of CAGS
  2. * 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.
  3. * 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
  1. * No evidence of a disease-causing or potentially disease-causing variant ANRKD17 variant on a pre-existing clinical genetic report.

Contacts and Locations

Study Contact

Maya Chopra, MBBS FRACP
CONTACT
617-919-6258
maya.chopra@childrens.harvard.edu
Raymond Belanger Deloge, MS, CGC
CONTACT
Raymond.belangerdeloge@childrens.harvard.edu

Principal Investigator

Abigail Sveden, MS, CGC
STUDY_CHAIR
Boston Children's Hospital

Study Locations (Sites)

Boston Children's Hospital
Boston, Massachusetts, 02115
United States

Collaborators and Investigators

Sponsor: Boston Children's Hospital

  • Abigail Sveden, MS, CGC, STUDY_CHAIR, Boston Children's Hospital

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2022-08-27
Study Completion Date2026-12-01

Study Record Updates

Study Start Date2022-08-27
Study Completion Date2026-12-01

Terms related to this study

Keywords Provided by Researchers

  • Syndrome
  • Neurodevelopmental
  • ANKRD17 Loss of function
  • ANKRD17
  • Rare Disease

Additional Relevant MeSH Terms

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