Cri du Chat Syndrome Clinical Trials and Treatments

Cri du chat syndrome results from a partial deletion of the short arm (p) of chromosome 5, typically involving terminal deletion of 5p (80-90% of cases) or less commonly interstitial deletions. Deletions range in size from small <5 Mb deletions to large deletions affecting up to 40% of the short arm (~120 Mb). The condition is named for the distinctive high-pitched, cat-like cry ("cri du chat" in French) heard in infants, caused by laryngeal abnormalities including subglottal narrowing and hypotonia.

The most common symptoms of Cri du Chat Syndrome include Distinctive high-pitched cry in infancy (crying cat sound), Severe intellectual and developmental disability, Microcephaly and characteristic facial features, Hypotonia and developmental delays, Failure to thrive, among others. Cri du Chat Syndrome affects approximately 1 in 20,000 to 50,000 people. Symptoms can range from mild to severe and may vary between individuals.

Trial Friend lists all active clinical trials for Cri du Chat Syndrome from ClinicalTrials.gov, with eligibility criteria translated into plain English. Patients can filter by trial phase and recruitment status, search by location, and use the Match Me tool to score trials against their profile. Intensive early intervention services including speech-language pathology, occupational therapy, and physical therapy should be initiated in infancy to optimize development. Educational support tailored to cognitive abilities and including specialized instruction maximizes learning within significant limitations.

As of September 2026, Trial Friend's curated drug index does not include an FDA-approved treatment specific to Cri du Chat Syndrome. The Treatments section of this page checks FDA drug labels live and lists any approved drug whose label names the condition, and the trials listed below cover the investigational options.

Cri du Chat Syndrome is caused by a change in chromosome structure or number rather than a single gene. Caused by a deletion of the short arm of chromosome 5 (5p-) detected by chromosomal microarray or karyotype; about 10% are inherited from a parent carrying a balanced translocation. Most cases arise from a new variant not carried by either parent, so the chance of it recurring in a sibling is low but not zero. The condition affects approximately 1 in 20,000 to 50,000 people.

Yes. Cri du Chat Syndrome is a chromosomal condition rather than a single-gene one, so the test is a chromosomal microarray, FISH, karyotype or DNA methylation study, depending on the change, not gene sequencing. Caused by a deletion of the short arm of chromosome 5 (5p-) detected by chromosomal microarray or karyotype; about 10% are inherited from a parent carrying a balanced translocation.

Most cases arise from a new variant not carried by either parent, so the chance of it recurring in a sibling is low but not zero.

The labs currently offering the test are listed in the Genetic Testing section of this page, pulled live from the NIH Genetic Testing Registry. A genetic counselor can help interpret the result and decide which relatives should be tested.

Eligibility for Cri du Chat Syndrome clinical trials depends on factors like age, diagnosis, treatment history, and overall health. Each trial sets its own inclusion and exclusion criteria. Trial Friend translates these requirements from medical language into plain English so patients can review them more easily. The Match Me tool can score your profile against active trials to help identify studies that may be a fit.

Participating in a Cri du Chat Syndrome clinical trial typically involves scheduled visits, medical tests, and close monitoring by a research team. Depending on the study phase, you may receive an investigational treatment, a placebo, or the current standard of care. Trials may last from a few weeks to several years. Study participation is voluntary, and you can withdraw at any time.