Effect of Lithium in Patients With Autism Spectrum Disorder and Phelan-McDermid Syndrome (SHANK3 Haploinsufficiency)

Summary

Participation Requirements

Description

Phase IIa intervention study, pilot, prospective, multicenter, randomized in 2 parallel arms, Li+ versus placebo, double-blind. The main objective of the study is to evaluate the effect of Li+ at 12 weeks, compared to placebo, on the social communication deficit in patients with Phelan-McDermid Synd...

Phase IIa intervention study, pilot, prospective, multicenter, randomized in 2 parallel arms, Li+ versus placebo, double-blind. The main objective of the study is to evaluate the effect of Li+ at 12 weeks, compared to placebo, on the social communication deficit in patients with Phelan-McDermid Syndrome (SHANK3 haploinsufficiency). The Secondary Objectives are : To evaluate the effect of Li+ at 12 weeks on all cardinal and main symptoms in patients suffering from Phelan-McDemid Syndrome (PMS). Evaluate the tolerance of Li + for 12 weeks in children suffering from PMS. Demonstrate the feasibility of a phase III, randomized controlled trial. The treatment of the study is lithium carbonate: Li+ carbonate capsules are prepared from the raw material for pharmaceutical use . Inclusion will be ensured by the clinical genetics centers. Psychiatric evaluation will be carried out by the investigative child psychiatry service. Patients will be followed up by 2 referring physicians: a child psychiatrist, blind of the treatment arm, who will carry out the evaluations of the judgement criteria; a physician from the clinical investigation center, the only one informed of the attribution arm, who will ensure the adaptation of the LI dosage; an adaptation of the dummy dosage will be proposed to the patients on placebo to maintain the blind in this group as well. As the evaluation is based on hetero-evaluation (by the parents), a placebo treatment remains necessary in the control arm. Pharmaceutical preparations will be carried out for this pilot study: unit blister packaging of the active ingredient and the placebo.

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