RecruitingNCT01238250
Neurological
Cri-du-Chat Syndrome
Also known as 5p deletion syndrome, chromosome 5p minus syndrome, cat cry syndrome
Cri-du-Chat syndrome is caused by partial deletion of the short arm of chromosome 5 (5p15), with the size and location of the deletion determining phenotype severity. The name refers to the characteristic high-pitched cat-like cry in infanc
ORPHA:281 ↗Gene CTNND2Gene SEMAPHORIN3E and adjacent genes at 5p15Prevalence 1-5 per 10,000 (Orphanet)Onset Neonatal, InfantileGenetic (chromosomal deletion, usually de novo)
2
studies recruiting now
as of 7 Sept 2026
5
studies registered in total
as of 7 Sept 2026
1
countries with a recruiting site
as of 7 Sept 2026
18 Dec 2024
most recent study posted
among recruiting studies
Recruiting trials
RecruitingNot applicableNCT06740162
Physical Activity and Community EmPOWERment Project
Showing the 2 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
Search all Cri-du-Chat Syndrome studiesWhere recruiting studies are running
Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
Keep watching
Get an email when a new Cri-du-Chat Syndrome study opens.
One email a day at most. Unsubscribe with one click.
Used only for these alerts. Privacy.
Support
Patient organisations
Registry: 5p- Society Patient Registry · Join ↗. Registries connect patients to researchers and often hear about trials first.
About Cri-du-Chat Syndrome
Cri-du-Chat syndrome is caused by partial deletion of the short arm of chromosome 5 (5p15), with the size and location of the deletion determining phenotype severity. The name refers to the characteristic high-pitched cat-like cry in infancy caused by laryngeal abnormalities. Core features include severe intellectual disability, delayed motor development, microcephaly, and distinctive facial features. Larger deletions affecting 5p15.2 cause more severe intellectual disability, while very distal deletions may cause milder disease.
Common clinical features
High-pitched cat-like cry in infancySevere intellectual disabilityMicrocephalyHypotoniaDistinctive facial featuresDelayed motor developmentBehavioral problems (hyperactivity, aggression)
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Before you apply
Things trial teams commonly ask about for Cri-du-Chat Syndrome. Not eligibility rules; those are set by each study.
- Chromosomal microarray documenting 5p deletion size and region is required — deletion characteristics affect phenotype and trial stratification
- Communication assessment using augmentative and alternative communication (AAC) tools is relevant for speech-language trials
- Behavioral assessments (ABC-C, repetitive behavior scales) are standard baseline tools for behavioral intervention trials
- Natural history studies are the primary research pathway — Cri-du-Chat Society maintains a registry for trial matching
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).