LEVODOPA for Neurodevelopmental disorder|CTNNB1|Rare disease

Inclusion criteria

• {"criterion_text":"- Ages 1 to 15 inclusive"}
• {"criterion_text":"- Carrier of a pathogenic variant of CTNNB1."}
• {"criterion_text":"- Patient presenting with dystonia."}
• {"criterion_text":"- Patient willing to comply with the contraception requirements outlined in the protocol"}

Exclusion criteria

• {"criterion_text":"- Contraindication to treatment with L-dopa and carbidopa or one of its excipients"}
• {"criterion_text":"- Current treatment with L-dopa, dopamine agonist or dopamine blocker,"}
• {"criterion_text":"- Failure to obtain informed consent signed by both parents or legal guardians, and to obtain the child's assent if possible."}
• {"criterion_text":"- Patient not enrolled in or benefiting from a social security scheme"}
• {"criterion_text":"- Person participating in another research project with an exclusion period still in progress"}
• {"criterion_text":"- Patient presenting with a gastro-duodenal ulcer."}
• {"criterion_text":"- Patient presenting with open-angle glaucoma"}
• {"criterion_text":"- Patient presenting with orthostatic hypotension"}
• {"criterion_text":"- Person who is pregnant or who wishes to become pregnant within 12 months after inclusion."}

Primary endpoints

• {"endpoint_text":"- GMFM-88 motor score before treatment (Day 1) and at 6 months","definition_or_measurement_approach":"Assess motor skills using the 88-item Gross Motor Function Measure (GMFM-88) before treatment (Day 1) and at 6 months."}

Secondary endpoints

• {"endpoint_text":"- GMFM-88 motor score before treatment (Day 1) and at 12 months","definition_or_measurement_approach":"Assess motor skills using the GMFM-88 before treatment (Day 1) and at 12 months."}
• {"endpoint_text":"- Changes in language/development/cognition assessment scores (Bayley III, WPPSI, WISC, Vineland), before treatment and at 1 year after treatment","definition_or_measurement_approach":"Use age-appropriate developmental/cognitive scales (Bayley III, WPPSI, WISC, Vineland) to compare scores before treatment and at 1 year."}
• {"endpoint_text":"- Changes in quality-of-life scores (Caregiver Priorities & Child Health Index of Life with Disabilities (CP-CHILD), Clinical Global Impression of severity scale (CGI)) before treatment, at 6 months and at 1 year after initiation of treatment","definition_or_measurement_approach":"Measure quality of life with CP-CHILD and assess clinical global impression (CGI) at baseline, 6 months and 12 months."}
• {"endpoint_text":"- Tolerance assessment (number and severity of adverse events, clinical follow-up, clinical, neurological and osteoarticular examination, patient logbook).","definition_or_measurement_approach":"Safety/tolerance assessed by recording number and severity of adverse events, clinical follow-up examinations (clinical, neurological, osteoarticular) and patient/parent logbooks."}
• {"endpoint_text":"- GMFM-88 motor score between 6 and 12 months of treatment","definition_or_measurement_approach":"Compare GMFM-88 motor score changes between 6 months and 12 months of treatment."}

France

Latest Decision Or Authorization Date

29-01-2026

Number Of Sites

1

Number Of Participants

7

Primary sponsor

Full Name

Centre Hospitalier Universitaire De Montpellier

Organisation Type

Hospital/Clinic/Other health care facility

Country Of Registered Address

France

Third parties

• {"country":"","full_name":"PTC Therapeutics","duties_or_roles":"Monetary support","organisation_type":""}
• {"country":"","full_name":"Montpellier University Hospital","duties_or_roles":"Monetary support","organisation_type":""}