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Menkes disease

MONDO:0010651

A usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair.

Also known as: copper transport disease, MD, MNK, Menkes disease, Menkes kinky hair syndrome, Menkes kinky-hair syndrome, Menkes syndrome, Mk

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

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Broader categories

Disease (680) Metabolic disease (233) Hereditary disease (176) Inborn errors of metabolism (45) Syndromic disease (25) Human disease (14) Disease of genetic or genomic mechanism (2) Inborn metal metabolism disorder (1) Disease by body system or component (0) Disease by developmental or physiological process (0)
Trials to join now! 1 Not yet finished but already full! 3 Completed 1
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  • Can a blood pressure drug help kids with menkes disease?

    Symptom relief Recruiting now

    This study tests whether Northera (droxidopa) is safe and can improve symptoms like dizziness, fainting, and low blood pressure in children aged 7 to 17 with Menkes disease. Six to ten participants will receive either the drug or a placebo in two four-week periods, with careful d…

    Phase: PHASE1, PHASE2 • Sponsor: Stephen G. Kaler • Aim: Symptom relief

    Last updated Jul 22, 2026 00:00 UTC

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