Partial duplication of chromosome X
MONDO:0017008Also known as: partial duplication of chromosome type X, partial trisomy of chromosome X
8 clinical trials for this condition and its sub-types.
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New hope for rare genetic disorder: drug ION440 enters human trials
Disease control Recruiting nowThis study tests a new drug called ION440 in 48 people with MECP2 duplication syndrome, a rare genetic condition that causes intellectual disability and seizures. The drug is given via a spinal injection to see if it is safe and how the body processes it. Some participants will r…
Phase: PHASE1, PHASE2 • Sponsor: Ionis Pharmaceuticals, Inc. • Aim: Disease control
Last updated Jun 27, 2026 12:00 UTC
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New prenatal blood test aims to detect genetic disorders without invasive procedures
Diagnosis Recruiting nowThis study is testing a new blood test that looks for fetal cells in the mother's blood to detect genetic conditions like Down syndrome. The test will be compared to standard diagnostic methods such as amniocentesis or newborn testing. The study involves 1,000 pregnant individual…
Sponsor: BillionToOne Inc. • Aim: Diagnosis
Last updated Jun 27, 2026 13:06 UTC