L-dopa treatment for a CTNNB1-related neurodevelopmental disorder in children
Official title: Prospective Pilot Study of L-dopa Treatment in Patients With a Neurodevelopmental Disorder Related to a Pathogenic Variant of the CTNNB1 Gene
Run by University Hospital, Montpellier · NCT07614126 · Data updated 2026-11-12
This study tests whether L-dopa can help children with a CTNNB1-related neurodevelopmental disorder who have dystonia.
Quick facts
| Study type | Interventional |
|---|---|
| Ages | 1 Year to 15 Years |
| Sex | All |
| Enrollment | 7 (estimated) |
| Sponsor | University Hospital, Montpellier Academic / other |
| Locations | 1 site (Montpellier, Hérault) |
| Status | Recruiting |
| Started | April 8, 2026 |
| Main results expected | December 2026 |
| Study ends | May 2027 |
| Registry record updated | May 29, 2026 |
| Trial ID | NCT07614126 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates are children aged 1–15 with a confirmed pathogenic CTNNB1 variant and clinically significant dystonia who can comply with contraception and consent requirements.
✕Probably not a fit
Patients without CTNNB1-related dystonia, those intolerant to L-dopa/carbidopa, or those with contraindications may not benefit.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This interventional study explores the use of L-dopa in children aged 1 to 15 with a pathogenic CTNNB1 variant and dystonia. Participants will receive L-dopa with carbidopa, unless contraindicated, to see if symptoms improve. The study is conducted at CHU de Montpellier with collaboration from PTC Therapeutics, and includes safety monitoring and consent requirements for families. The exact study phase is not specified. The design details regarding randomization, controls, or endpoints are not provided in the available description.
Why it matters
Potential benefit: If successful, L-dopa could reduce motor symptoms and improve quality of life for affected patients.
How similar studies have gone: There is limited published experience in CTNNB1-related disorders, with recent but sparse data on L-dopa use in this condition.
Who can join: the full rules
Show full inclusion / exclusion criteria
Inclusion Criteria: * Aged between 1 and 15 years inclusive, * Carrier of a pathogenic variant of CTNNB1, * Patient with dystonia, * Patient willing to comply with the contraception requirements detailed in the protocol. Exclusion Criteria: * Contraindication to treatment with L-dopa and carbidopa or any of its excipients, * Current treatment with L-dopa, dopamine agonist, or dopamine blocker, * Patients with peptic ulcer disease, * Patients with open-angle glaucoma, * Patients with orthostatic hypotension, * Failure to obtain informed consent signed by both parents or legal guardians and the child's assent, if possible, * Patients not affiliated with or not covered by a social security scheme, * Individuals participating in another study with an exclusion period still in progress, * Individuals who are pregnant or wish to become pregnant within 12 months of inclusion.
Where it's running
-
CHU de Montpellier
Montpellier, Hérault, France Recruiting
Study contacts
- Study coordinator: Agathe Roubertie, Pr.
- Email: a-roubertie@chu-montpellier.fr
- Phone: +33 4.67.33.01.82
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.