Rubinstein-Taybi Syndrome Clinical Trial
Official title:
Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic Trial
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).
Such a multidisciplinary approach has never been presented for this syndrome; it should
enable us identifying specific cognitive and motor deficits and their association thanks to
imaging markers. Assessing the various aspects of motor skills, i.e. primary (movements,
standing at ease position, immobility) and complex motor skills (actions and behaviours,
motor aspects of feelings and language expressions) is an integral part of the clinical
examination in psychiatrics.
The main interest of a functional capacity analysis is to be used as an index allowing the
assessment of the nervous system's global capacities and the study of the connections
between cognitive functions and motor skills 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".
Double-blind phase 2 clinical trial, designed as a one-step Fleming design but with a
control group. Rubival is a two-parallel group randomized trial:
- a placebo group of 20 patients
- a group of 40 patients taking sodium valproate (HDAC inhibitor) with an oral dosage of
30 mg/kg/jour
;
Allocation: Randomized, Endpoint Classification: Efficacy Study, Intervention Model: Parallel Assignment, Masking: Double Blind (Subject, Caregiver, Investigator, Outcomes Assessor), Primary Purpose: Treatment
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