Syndrome caused by partial chromosomal duplication
MONDO:0000762A chromosomal disorder consisting of the presence of a part of a chromosome in more copies than in a regular genome.
Also known as: microduplication sydrome, chromosomal duplication syndrome
27 clinical trials for this condition and its sub-types.
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Broader categories
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New drug shows promise for Tough-to-Treat seizures in kids
Disease control TerminatedThis study looked at the long-term safety of soticlestat, an experimental drug, in children and adults with severe forms of epilepsy like Dravet syndrome and Lennox-Gastaut syndrome. Participants took soticlestat twice a day along with their usual seizure medicines. The study was…
Phase: PHASE2 • Sponsor: Takeda • Aim: Disease control
Last updated Jun 27, 2026 11:03 UTC
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Promising Dup15q drug trial halted early
Disease control TerminatedThis study tested a drug called basmisanil in children aged 2 to 14 with Dup15q syndrome, a rare genetic condition that affects development. The goal was to see if the drug could improve daily living skills like communication and movement. The trial was stopped early after enroll…
Phase: PHASE2 • Sponsor: Hoffmann-La Roche • Aim: Disease control
Last updated Jun 27, 2026 08:03 UTC
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Scientists hunt for clues in rare genetic brain disorder
Knowledge-focused TerminatedThis study aimed to observe how MECP2 duplication syndrome progresses over time by measuring biological markers in spinal fluid and blood, and by tracking changes in development, behavior, and seizures. It enrolled 29 males aged 1 month to 65 years with a confirmed genetic diagno…
Sponsor: Ionis Pharmaceuticals, Inc. • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:05 UTC