Gene therapy injection into the brain aims to treat rare genetic disorder

NCT ID NCT07014020

Ongoing Disease control Sponsor: Peking University First Hospital Source: ClinicalTrials.gov ↗

First seen Jun 30, 2026 · Last updated Jul 29, 2026 · Updated 5 times

Summary

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 is safe and tolerable over 52 weeks. Researchers will also look for any signs of improvement in behavior and development.

What this could mean

Our plain-language read of the trial. This is informational only — not medical advice or a prediction.

Active substance: RB001 (gene therapy)
What this could lead to: If safe and effective, this could point toward a treatment that addresses the genetic root of Phelan-McDermid syndrome, potentially improving development and behavior.
What could go wrong: This is a very early, small (8 participants) dose-escalation study focused on safety, not proof of benefit. Gene therapies can have serious side effects, and it may not improve symptoms.

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Conditions

The condition(s) this trial relates to.

Phelan-McDermid syndrome Phelan-McDermid syndrome due to SHANK3 mutation

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

PHELAN-MCDERMID SYNDROME SHANK3 HAPLOINSUFFICIENCY

Contacts and locations

Locations

Peking University First Hospital

Beijing, Beijing Municipality, China

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