Megalencephaly-capillary malformation-polymicrogyria syndrome
MONDO:0011240A polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism.
Also known as: MCAP, MCM, MCMTC, Megalencephaly-Capillary Malformation, macrocephaly-capillary malformation syndrome, macrocephaly-cutis marmorata telangiectatica congenita syndrome, megalencephaly-capillary malformation syndrome, megalencephaly-capillary malformation-polymicrogyria syndrome
4 clinical trials for this condition and its sub-types, 3 tagged with Megalencephaly-capillary malformation-polymicrogyria syndrome itself.
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New drug targets root cause of rare overgrowth syndromes
Disease control Recruiting nowThis Phase 2 study tests an oral drug called RLY-2608 in adults and children with overgrowth conditions (like CLOVES or Klippel-Trenaunay syndrome) caused by PIK3CA gene mutations. The drug is designed to block the faulty protein driving abnormal tissue growth. The trial will enr…
Phase 2 • Sponsor: Relay Therapeutics, Inc. • Aim: Disease control
Last updated Aug 27, 2026 00:00 UTC
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Could a cancer drug help kids with rare brain disorder?
Disease control Recruiting nowThis phase 2 trial tests alpelisib, a drug originally developed for cancer, in 20 people aged 2 to 40 with MCAP syndrome—a rare condition causing an enlarged brain, blood vessel issues, and developmental delays. Participants receive either alpelisib or a placebo for 6 months, the…
Phase 2 • Sponsor: Centre Hospitalier Universitaire Dijon • Aim: Disease control
Last updated Jun 27, 2026 09:07 UTC
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Massive data collection launched for brain surgery patients
Knowledge-focused Recruiting nowThis study is gathering medical information and samples from up to 5,000 people with neurosurgical conditions like brain tumors, epilepsy, and Parkinson's disease. Participants receive standard care while their data is collected for future research. No new treatments are being te…
Sponsor: National Institute of Neurological Disorders and Stroke (NINDS) • Aim: Knowledge-focused
Last updated Aug 20, 2026 00:00 UTC