Chopra-Amiel-Gordon Syndrome (CAGS) Study Opportunity: Natural history study of individuals with ANKRD17 variants known or suspected to cause CAG Syndrome

ClinicalTrials.gov ID NCT05528744
Boston Childrens Hospital

Meet rare disease researcher Maya Chopra, MBBS, FRACP | Boston Children’s Hospital

Poster Presentations

Characterization of Caregiver QoL, Primary Concerns, and Challenges in Chopra-Amiel-Gordon Syndrome

Authors: Belanger Deloge R, Sveden A, Bayraktutan MC, Murray J, Cameron J, O-Toole J, Donaghue A, Tam C, Hanson E, Chopra MPresented at: American College of Medical Genetics Conference, Baltimore, MD, March 2026

The quality of life of caregivers of individuals with CAGS was investigated through standardized measures, along with interview questions. Caregivers shared their primary concerns, which included concerns with their child’s independence, growth and development, and language skills. They also shared challenges surrounding personal hygiene, communicating needs, focus/attention, and aggressive behaviors. It is important that we continue to study what matters most to the CAGS community as we prepare for measuring success in future clinical trials.

Variants of Uncertain Significance in ANKRD17: Challenges and Opportunities in Clarification in a Natural History Study

Authors: Sveden A, Belanger Deloge R, Bayraktutan M, Cameron J, Murray J, Heaney J, Burrage L, Lanza D, Rosenfeld J, Undiagnosed Disease Network, BCM Center for Precision Medicine Models, Weksberg R, Winden K, Chamseddine S, Chou J, Chopra MPresented at: American College of Medical Genetics Conference, Baltimore MD, March 2026

Variants of uncertain significance (VUS) in ANKRD17, the gene associated with CAGS, were evaluated over time. Emerging research, including mouse models, functional testing, and increased understanding of the features of CAGS, allowed researchers to re-evaluate twelve ANKRD17 VUS. While half of the variants are still thought to be VUS, four are now thought to be likely benign, meaning they are not thought to cause any medical problems, and two are now thought to likely causative of CAGS.

A Preliminary Patient-Centered Disease Concept Model for Chopra-Amiel-Gordon Syndrome

Authors: Sayers A, Sveden A, Diez Caro D, Chopra M, Belanger Deloge R
Presented at: NERGG 2025 Conference, Portsmouth, NH, December 2025

Caregivers and clinicians of individuals with CAGS completed interviews about their experiences to create a “disease concept model.” This model captures not only the physical symptoms of CAGS, but also how CAGS affects quality of life and daily functioning for the patient and their family. Caregivers often discussed their difficulties navigating resources, as well as financial barriers to receiving care, alongside the rewarding aspects of caring for a child with CAGS.

Epilepsy Phenotypes in Chopra-Amiel-Gordon Syndrome

Authors: Bayraktutan MC, Sveden A, Belanger Deloge R, Cameron J, Murray J, O-Toole J, Winden K, Donaghue A, Tam C, Hanson E, Chopra MPresented at: American Epilepsy Society Conference, Atlanta, GA, December 2025

Scientists are continuing to study seizures and epilepsy in individuals with CAGS. Epilepsy is more common among individuals with CAGS than initially reported, being present in about half of diagnosed individuals compared to the 27% initially reported. The types and frequency of seizures, as well as the age of first seizure, varies among individuals with CAGS. While some individuals with CAGS have drug-resistant epilepsy, most are able to control their seizures well through medication.

Behavioral phenotyping in Chopra-Amiel-Gordon Syndrome: insights from neurobehavioral profiles

Authors: Cameron J, Bayraktutan MC, Belanger Deloge R, Sveden S, Murray J, Donaghue A, Tam C, Hanson E, Chopra MPresented at: American Society of Human Genetics Conference, Boston, MA, Oct 2025

Researchers analyzed neurobehavioral assessment data from a small group of individuals with CAGS. These assessments look at cognition – how we think and learn – and day-to-day adaptive skills. People with CAGS display a wide range of cognitive and adaptive skills. Sometimes, people with CAGS more difficulty with daily functioning skills than we might expect from their level of cognition. It is important that we continue to study these skills to determine how to best help those with CAGS in the future.

Chopra-Amiel-Gordon Syndrome (CAGS) Foundation, Inc.

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