Please sign in to follow a disease.
Phelan-McDermid syndrome
MONDO:0011652A rare genetic neurodevelopmental disorder characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features. Phelan-McDermid syndrome can be caused by a deletion at chromosome 22q13 or by mutation in the SHANK3 gene.
Also known as: PHMDS, Phelan McDermid syndrome, Phelan-McDermid syndrome, 22q13 deletion, monosomy 22q13, monosomy type 22q13, 22q13.3 deletion syndrome, chromosome 22Q13.3 deletion syndrome
10 clinical trials for this condition and its sub-types.
Follow this condition to get notified about new trialsSub-types
Broader categories
-
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
-
Can early parent coaching help infants with rare genetic disorders thrive?
Disease control By invitation onlyThis 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…
Sponsor: RTI International • Aim: Disease control
Last updated Jul 15, 2026 00:00 UTC
-
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
-
Can a video-based therapy tame tough behaviors in kids with rare genetic disorders?
Symptom relief OngoingThis study tests a virtual behavioral therapy (Functional Behavioral Training) for children aged 2-12 with genetic syndromes like Fragile X, Angelman, or Rett syndrome who have challenging behaviors. The therapy teaches parents how to identify what triggers problem behaviors and …
Sponsor: Rush University Medical Center • Aim: Symptom relief
Last updated Jul 15, 2026 00:00 UTC
-
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…
Sponsor: Boston Children's Hospital • Aim: Knowledge-focused
Last updated Aug 08, 2026 00:03 UTC