Rubinstein-Taybi Syndrome MedDRA version: 14.1 Level: PT Classification code 10039281 Term: Rubinstein-Taybi syndrome System Organ Class: 10010331 - Congenital, familial and genetic disorders
Conditions
Interventions
Trade Name: Depakine
Pharmaceutical Form: Oral liquid
Pharmaceutical form of the placebo: Oral liquid
Route of administration of the placebo: Buccal use
Sponsors
CHU de bordeaux
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: - Children over 6 and under 21 - RTS confirmed by a genetic study with a CBP gene or EP300 gene mutation - Sufficient cognitive capacities for neuropsychological evaluation - Free and informed consent of the parents or guardians - Children affiliated to or benefiting of the French social welfare system Are the trial subjects under 18? yes Number of subjects for this age range: 60 F.1.2 Adults (18-64 years) yes F.1.2.1 Number of subjects for this age range F.1.3 Elderly (>=65 years) no F.1.3.1 Number of subjects for this age range
Exclusion criteria
Exclusion criteria: - Contraindication to sodium valproate - Women of reproductive age without contraception means - Case history of sodium valproate treatment - Monotherapy treatment for epilepsy with Lamictal with a dosage superior to 5 mg/kg/j - Pregnancy - breastfeeding - renal failure - enzymatic deficit of urea cycle
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Main Objective: Evaluate long term memory with subtest “point location” – CMS and “image recognition” RBMT A patient is said to be responder if after one year his or her test result increase for one point at least one of the two tests : a increase of one point to “point location” or “image recognition”.;Secondary Objective: Evaluate the impact after one year of treatment with sodium valproate through: - a special brain imaging profile and motor skills (posturology and motor coordination in a visuo-manual pointing task) - cognitive and developmental profile - histone acetylation profile ;Primary end point(s): - Memory tests (assessing memory learning) A patient is said to be responder if after one year his or her test result increase for one point at least one of the two tests : a increase of one point to “point location” or “image recognition”. ;Timepoint(s) of evaluation of this end point: one year | — |
Secondary
| Measure | Time frame |
|---|---|
| Secondary end point(s): - Special brain imaging profile and motor skills (posturology and motor coordination in a visuo-manual pointing task) - Cognitive and developmental profile - Histone acetylation profile ;Timepoint(s) of evaluation of this end point: one year | — |
Countries
France
Outcome results
None listed