Phelan-McDermid syndrome
MONDO:0011652A rare genetic neurodevelopmental disorder characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features. Phelan-McDermid syndrome can be caused by a deletion at chromosome 22q13 or by mutation in the SHANK3 gene.
Also known as: PHMDS, Phelan McDermid syndrome, Phelan-McDermid syndrome, 22q13 deletion, monosomy 22q13, monosomy type 22q13, 22q13.3 deletion syndrome, chromosome 22Q13.3 deletion syndrome
10 clinical trials for this condition and its sub-types.
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Broader categories
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Gene therapy trial hopes to tackle rare Autism-Linked condition
Disease control Recruiting nowThis early-stage trial tests a single dose of JAG201 gene therapy, given directly into the brain fluid, for people with SHANK3 haploinsufficiency (Phelan-McDermid syndrome), a rare genetic condition causing developmental delays and autism-like symptoms. The study includes childre…
Phase 1/2 • Sponsor: Jaguar Gene Therapy, LLC • Aim: Disease control
Last updated Sep 05, 2026 00:00 UTC
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Hope for rare genetic disorder: new drug trial targets core symptoms
Disease control Recruiting nowThis study tests an oral drug called NNZ-2591 in 160 children aged 3 to 12 with Phelan-McDermid syndrome, a rare genetic condition. The drug is compared to a placebo to see if it improves communication and daily function. The trial is double-blind, meaning neither the families no…
Phase 3 • Sponsor: Neuren Pharmaceuticals Limited • Aim: Disease control
Last updated Aug 27, 2026 00:00 UTC
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New drug shows promise for rare genetic disorder in kids
Disease control Recruiting nowThis phase 3 study is testing an oral drug called NNZ-2591 in 180 children aged 3 to 12 with Phelan-McDermid syndrome, a rare genetic condition that causes developmental delays and other challenges. The main goal is to see if the drug is safe and tolerable over the long term. Res…
Phase 3 • Sponsor: Neuren Pharmaceuticals Limited • Aim: Disease control
Last updated Aug 14, 2026 00:00 UTC