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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 injection into the brain aims to treat rare genetic disorder

Disease control Ongoing

This early-stage trial tests a single injection of RB001, a gene therapy, directly into the fluid around the brain of children with Phelan-McDermid syndrome caused by SHANK3 gene changes. The study includes up to 8 children aged 3 to 17 and primarily checks whether the treatment …

Phase: PHASE1 • Sponsor: Peking University First Hospital • Aim: Disease control

Last updated Jul 02, 2026 00:00 UTC