Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic Trial
Status:
Completed
Trial end date:
2014-09-01
Target enrollment:
Participant gender:
Summary
An exploratory phase 2 therapeutic trial in children from 6 to 21, RTS carriers, randomized
to be treated either with sodium valproate with the usual pediatric dosage (30 mg/kg/j), or
by placebo for one year.
The investigator would like to include children because they could best profit from it due to
their neuronal plasticity as CBP and EP300 take effect through neuronal and synaptic
plasticity.
The therapeutic effect of sodium valproate in RTS patients will be assessed thanks to a
clinical approach (learning and memory neuropsychological evaluation, fine motor skills
assessment by pointing), to a biological approach (histone acetylation functional tests), and
to imaging (morphological and functional MRI).