A phase II double-blind multicentre, placebo-controlled trial to assess the efficacy and safety of alpelisib (BYL719) in paediatric and adult patients with Megalencephaly-CApillary malformation Polymicrogyria syndrome (MCAP): the SESAM study protocol

A Phase II Clinical Trial for MCAP Syndrome: The SESAM Study

Introduction

Megalencephaly capillary malformation polymicrogyria (MCAP syndrome) is caused by specific genetic changes. Key symptoms include large head size, growth issues, developmental delays, and brain abnormalities. Alpelisib (Vijoice) is a new treatment approved for related conditions. This study aims to see how effective alpelisib is in improving behavior in MCAP patients over 24 months.

Study Design

The SESAM study is a two-part clinical trial conducted in multiple centers in France. It includes:

A 6-month double-blind period where some patients receive alpelisib and others receive a placebo.
An open-label period after the initial phase.

The main goal is to achieve a 4-point improvement in the Vineland II Adaptive Behaviour Scale (VABS) after 24 months. Secondary goals include assessing safety, quality of life, and other health issues. The study will involve 20 patients aged 2 to 40 with MCAP and varying developmental challenges, monitored monthly.

Evaluation Methods

Patients will undergo:

Clinical and psychological assessments every 6 months.
Volumetric MRI scans at the start and after 24 months.
An optional lumbar puncture to check if the drug can reach the brain.

Inclusion of patients was completed by April 2024, with follow-up ending in November 2026. If alpelisib effectively crosses the blood-brain barrier, it may significantly benefit patients with cognitive issues.

Ethics and Sharing Results

This study has received ethical approval. Results will be shared through publications, reports, and conferences.

Trial Registration

Clinical trial registration number: NCT05577754.

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