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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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  • Could a blood pressure drug improve daily life for rare disease survivors?

    Symptom relief Completed

    This study tested whether the drug Northera (droxidopa) is safe and helpful for adults with Menkes disease or Occipital Horn Syndrome who have trouble with low blood pressure and other symptoms of dysautonomia. Three participants took either the drug or a placebo in a crossover d…

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

    Last updated Jun 27, 2026 12:07 UTC

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