CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy
MONDO:0100571Any neurodevelopmental disorder and/or exudative vitreoretinopathy caused by a monoallelic variant in the CTNNB1 gene. Variants in CTNNB1 are related to a neurodevelopmental condition with a broad spectrum of presentations ranging from isolated vitreoretinopathy to a complex neurodevelopmental disorder with mild to severe intellectual disability, microcephaly, spasticity, autism spectrum disorder, and visual defects, including retinal detachment, and abnormal retinal vascularization.
4 clinical trials for this condition and its sub-types, 3 tagged with CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy itself.
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Sub-types of CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy
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Exudative vitreoretinopathy 7 0 trials
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First gene therapy for rare brain disorder begins testing in kids
Disease control Recruiting nowThis early-stage trial tests a gene therapy called Urbagen in 12 children aged 2-12 with CTNNB1 neurodevelopmental syndrome, a rare genetic condition causing motor and cognitive delays. The therapy is given as a single infusion into the brain fluid, along with immunosuppressant d…
Phase 1/2 • Sponsor: CTNNB1 Foundation • Aim: Disease control
Last updated Jun 27, 2026 12:00 UTC
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Could a Parkinson's drug ease symptoms of a rare childhood brain condition?
Symptom relief Recruiting nowThis study tests whether L-dopa, a drug used for Parkinson's, can improve movement and communication in children with a rare genetic disorder called CTNNB1 syndrome. The condition causes developmental delays, muscle stiffness, and trouble walking. Seven children aged 1 to 15 will…
Sponsor: University Hospital, Montpellier • Aim: Symptom relief
Last updated Jun 27, 2026 13:00 UTC
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Dragonfly study launches to map rare genetic syndrome
Knowledge-focused Recruiting nowThe Dragonfly study is an international observational project tracking the development of 250 children and adults with CTNNB1 neurodevelopmental syndrome. Researchers will collect medical history, perform neurological exams, and use questionnaires to understand how symptoms and a…
Sponsor: University Medical Centre Ljubljana • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:51 UTC