CTNNB1, Neurodevelopmental disorders, rare disease
Conditions
Brief summary
GMFM-88 motor score before treatment (Day 1) and at 6 months
Detailed description
GMFM-88 motor score before treatment (Day 1) and at 12 months, Changes in language/development/cognition assessment scores (Bayley III, WPPSI, WISC, Vineland), before treatment and at 1 year after treatment, 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, Tolerance assessment (number and severity of adverse events, clinical follow-up, clinical, neurological and osteoarticular examination, patient logbook)., GMFM-88 motor score between 6 and 12 months of treatment
Interventions
DRUGCarbidopa 0.75mg/Kg/j
DRUGCarbidopa 0.3mg/Kg/j
DRUGLévodopa 3mg/kg/j
Sponsors
Centre Hospitalier Universitaire De Montpellier
Eligibility
Sex/Gender
All
Age
0 Years to 17 Years
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| GMFM-88 motor score before treatment (Day 1) and at 6 months | — |
Secondary
| Measure | Time frame |
|---|---|
| GMFM-88 motor score before treatment (Day 1) and at 12 months, Changes in language/development/cognition assessment scores (Bayley III, WPPSI, WISC, Vineland), before treatment and at 1 year after treatment, 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, Tolerance assessment (number and severity of adverse events, clinical follow-up, clinical, neurological and osteoarticular examination, patient logbook)., GMFM-88 motor score between 6 and 12 months of treatment | — |
Countries
France
Outcome results
None listed