Rubinstein-Taybi syndrome: approach to functional imaging and therapeutic trial

INTERVENTION: Trade Name: Depakine Pharmaceutical Form: Oral liquid Pharmaceutical form of the placebo: Oral liquid Route of administration of the placebo: Buccal use CONDITION: 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 Therapeutic area: Diseases [C] ‐ Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] PRIMARY OUTCOME: 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”. 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”.; 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; Timepoint(s) of evaluation of this end point: one year SECONDARY OUTCOME: 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; 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