Recruiting

Observational Study

Sponsor:

Boston Children's Hospital

Code:

NCT05528744

Conditions

Genetic Disease

Chopra-Amiel-Gordon Syndrome

CAGS

ANKRD17

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Interventions

Observational Study

Sample collection only

Study Details

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.

Conditions

Genetic Disease

Chopra-Amiel-Gordon Syndrome

CAGS

ANKRD17

Study ID

NCT05528744

Start date

Aug 27, 2022

Status verified date

Feb, 2026

Completion date

Dec, 2030

Anticipated

Primary completion date

Dec, 2030

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

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.

Study Design

Enrollment

125 participants

Anticipated

Interventions and Outcome Measures

Arms

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.

Unaffected family members

Family members of the proband who do not have an ANKRD17 variant.

Interventions

Observational Study

No intervention. This is an observational study

Sample collection only

Collection of blood and/or skin samples.

Primary outcome measure

  • Research registry of molecular and phenotypic information related to CAGS [ Time Frame: 4-5 years ]
  • Generation of patient-derived iPSC cell lines [ Time Frame: 4-5 years ]

Central Contacts and Locations

Central contacts

Abigail Sveden, MS, CGC

617-919-5214Abigail.sveden@childrens.harvard.edu

Jillian O'Toole, MS, CGC

jillian.otoole@childrens.harvard.edu

Locations

Boston Children's Hospital

Recruiting

Boston, Massachusetts, United States, 02115

Contacts

Maya Chopra, MBBS, FRACP

6179196258maya.chopra@childrens.harvard.edu

Abigail Sveden, MS, CGC

617-919-5214Abigail.sveden@childrens.harvard.edu

More Information

Sponsor

Boston Children's Hospital

Last update posted

Feb 17, 2026

Last verified

Feb, 2026

Keywords

  • Syndrome
  • Neurodevelopmental
  • ANKRD17 Loss of function
  • ANKRD17
  • Rare Disease
  • CAGS
  • Chopra-Amiel-Gordon

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Boston Children's Hospital on 2026-02-17.