Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic Trial

• Status: Completed
• Trial end date: 2014-09-01
• Target enrollment: 0
• Participant gender: All

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).

• Phase: Phase 2
• Accepts Healthy Volunteers?: No

Details

• Lead Sponsor: University Hospital, Bordeaux
• Collaborator: Fondation Syndrome de Rubinstein-Taybi
• Treatments: Valproic Acid

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

Exclusion Criteria:

• Contraindication to sodium valproate

• Women of reproductive age without effective contraception means

• Case history of sodium valproate treatment

• Monotherapy treatment for epilepsy with Lamictal with a dosage superior to 5 mg/kg/j

• Family history of severe hepatitis including drug

• Acute or chronic hepatitis

• Pregnancy