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Partial duplication of the short arm of chromosome 17

MONDO:0016950

Also known as: partial duplication of chromosome 17p, partial duplication of the short arm of chromosome type 17, partial trisomy of chromosome 17p, partial trisomy of the short arm of chromosome 17

16 clinical trials for this condition and its sub-types.

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Sub-types

Charcot-Marie-Tooth disease type 1A (14) Potocki-Lupski syndrome (1) Trisomy 17p (1) Chromosome 17p13.3 duplication syndrome (0)

Broader categories

Disease (680) Human disease (14) Chromosomal disorder (12) Disease of genetic or genomic mechanism (2) Autosomal anomaly (0) Chromosome 17 disorder (0) Disease by etiologic mechanism (0) Partial duplication of chromosome 17 (0) Syndrome caused by partial chromosomal duplication (0)
Trials to join now! 10 Not yet recruiting 2 Not yet finished but already full! 1 Completed 3
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  • Can a One-Time gene injection halt nerve damage in CMT1A?

    Disease control Terminated

    This 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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