PHELAN-MCDERMID SYNDROME
Clinical trials for PHELAN-MCDERMID SYNDROME explained in plain language.
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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 …
Matched conditions: PHELAN-MCDERMID SYNDROME
Phase: PHASE1 • Sponsor: Peking University First Hospital • Aim: Disease control
Last updated Jul 30, 2026 00:00 UTC
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Can early parent coaching help infants with rare genetic disorders thrive?
Disease control ENROLLING_BY_INVITATIONThis study tests a program called PIXI that coaches parents of infants diagnosed with rare neurogenetic disorders (such as Fragile X, Angelman, or Down syndrome) during the first year of life. The program combines education about the disorder, guided parent-child interaction acti…
Matched conditions: PHELAN-MCDERMID SYNDROME
Phase: NA • Sponsor: RTI International • Aim: Disease control
Last updated Jul 15, 2026 00:00 UTC
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Gene therapy for rare genetic syndrome moves to Long-Term safety check
Disease control ENROLLING_BY_INVITATIONThis 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…
Matched conditions: PHELAN-MCDERMID SYNDROME
Phase: PHASE1 • Sponsor: Peking University First Hospital • Aim: Disease control
Last updated Jul 15, 2026 00:00 UTC
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Can tracking a rare genetic syndrome unlock its mysteries?
Knowledge-focused OngoingThis study follows people with Phelan-McDermid syndrome, a rare genetic condition linked to autism and intellectual disability, to map how the syndrome unfolds over two years. Researchers will measure changes in thinking, behavior, language, and motor skills, and use brain imagin…
Matched conditions: PHELAN-MCDERMID SYNDROME
Sponsor: Boston Children's Hospital • Aim: Knowledge-focused
Last updated Aug 08, 2026 00:03 UTC