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
29 clinical trials for this condition and its sub-types.
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Broader categories
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Can a One-Time gene injection halt nerve damage in CMT1A?
Disease control TerminatedThis trial tests a one-time gene therapy injection for people with Charcot-Marie-Tooth disease type 1A (CMT1A), a genetic nerve disorder that causes progressive muscle weakness. The therapy delivers a gene that produces a protein to support nerve health. Three adults aged 18 to 3…
Phase: PHASE1, PHASE2 • Sponsor: Nationwide Children's Hospital • Aim: Disease control
Last updated Jul 31, 2026 00:00 UTC
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Custom-Made genetic drug targets rare brain disorder in one patient
Disease control OngoingThis study tests a personalized medicine called an antisense oligonucleotide, designed specifically for one person with autosomal dominant leukodystrophy (ADLD), a rare genetic brain disease. The treatment aims to slow or stop the disease by targeting the underlying genetic mutat…
Phase: PHASE1, PHASE2 • Sponsor: n-Lorem Foundation • Aim: Disease control
Last updated Jul 15, 2026 00:00 UTC
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One surgery instead of two? new coating may fight hip implant infections
Disease control OngoingThis study compares a single-stage surgery using implants coated with an antibiotic-loaded hydrogel to the standard two-stage surgery for treating chronic hip prosthesis infections. The single-stage approach aims to remove the infected implant and place a new one in the same oper…
Phase: NA • Sponsor: Centre Hospitalier Universitaire de Saint Etienne • Aim: Disease control
Last updated Jun 27, 2026 12:30 UTC