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Phelan-McDermid syndrome due to SHANK3 mutation

MONDO:0971069

2 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Hereditary disease (172) Syndromic disease (24) Human disease (14) Phelan-McDermid syndrome (7) Disease of genetic or genomic mechanism (2) Disease by body system or component (0) Disease by etiologic mechanism (0)

Trials to join now! 1 Not yet finished but already full! 1

Gene therapy trial hopes to tackle rare Autism-Linked condition

Disease control Recruiting now

This 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: PHASE1, PHASE2 • Sponsor: Jaguar Gene Therapy, LLC • Aim: Disease control

Last updated Jun 27, 2026 09:03 UTC