Angelman syndrome
MONDO:0007113A neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features.
Also known as: Angelman syndrome, Angelman’s syndrome, Angelman syndrome (Type 1), Angelman syndrome (Type 2), AS, Angelman syndrome chromosome region, happy puppet syndrome (formerly), happy puppet syndrome, formerly
16 clinical trials for this condition and its sub-types.
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Broader categories
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Gene therapy trial aims to help people with angelman syndrome communicate better
Disease control OngoingThis early-phase trial tests a gene therapy called MVX-220 in 12 children and adults with Angelman syndrome. The therapy delivers a working copy of the UBE3A gene via a single injection into the fluid around the brain. Researchers are primarily checking safety, but also looking f…
Phase: PHASE1, PHASE2 • Sponsor: MavriX Bio, LLC • Aim: Disease control
Last updated Jun 27, 2026 14:00 UTC
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New drug aims to control angelman syndrome long-term
Disease control ENROLLING_BY_INVITATIONThis phase 3 trial tests the long-term safety of GTX-102 (apazunersen) in 255 people with Angelman syndrome, a genetic disorder causing developmental delays and seizures. Participants have already completed an earlier GTX-102 study and will continue receiving the drug. The main g…
Phase: PHASE3 • Sponsor: Ultragenyx Pharmaceutical Inc • Aim: Disease control
Last updated Jun 27, 2026 12:29 UTC
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New drug hopes to boost brain function in kids with rare genetic disorder
Disease control OngoingThis Phase 3 trial tests a drug called GTX-102 (apazunersen) in 129 children with Angelman syndrome, a genetic condition causing severe developmental delays. The study compares the drug to a sham procedure to see if it improves cognitive function and other symptoms over about 11 …
Phase: PHASE3 • Sponsor: Ultragenyx Pharmaceutical Inc • Aim: Disease control
Last updated Jun 27, 2026 12:29 UTC
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Newborn screening study aims to catch rare diseases at birth
Diagnosis OngoingThis study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…
Sponsor: RTI International • Aim: Diagnosis
Last updated Jul 03, 2026 00:00 UTC