Gene therapy injection into the brain aims to treat rare genetic disorder
NCT ID NCT07014020
First seen Jun 30, 2026 · Last updated Jul 01, 2026 · Updated 1 time
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.
Disclaimer
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This is a summary of
the original study
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Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
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Locations
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Peking University First Hospital
Beijing, Beijing Municipality, China