Phelan-McDermid syndrome due to SHANK3 mutation
MONDO:09710693 clinical trials for this condition and its sub-types, 3 tagged with Phelan-McDermid syndrome due to SHANK3 mutation itself.
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Gene therapy injection into the brain aims to treat rare genetic disorder
Disease control OngoingThis 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 1 • Sponsor: Peking University First Hospital • Aim: Disease control
Last updated Jul 30, 2026 00:00 UTC
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Gene therapy for rare genetic syndrome moves to Long-Term safety check
Disease control By invitation onlyThis study follows children with Phelan-McDermid syndrome (a rare genetic disorder causing developmental delays) who received a single dose of RB001 gene therapy injected into the brain. Researchers will monitor them for up to 5 years to see if the treatment is safe and whether i…
Phase 1 • Sponsor: Peking University First Hospital • Aim: Disease control
Last updated Jul 15, 2026 00:00 UTC