Menkes disease
MONDO:0010651A 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, 5 tagged with Menkes disease itself.
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New hope for kids with rare copper deficiency disease
Disease control ApprovedThis program gives children under 6 with Menkes disease access to copper histidinate injections. Menkes disease is a rare genetic disorder where the body cannot properly use copper, leading to severe developmental problems. The treatment aims to supply the missing copper to help …
Sponsor: Sentynl Therapeutics, Inc. • Aim: Disease control
Last updated Jun 27, 2026 09:09 UTC
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Newborn screening study aims to catch rare diseases at birth
Diagnosis OngoingThis study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…
Sponsor: RTI International • Aim: Diagnosis
Last updated Jul 03, 2026 00:00 UTC
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Researchers track menkes disease over time to unlock key insights
Knowledge-focused OngoingThis study gathers long-term health information from up to 50 people with Menkes disease, a rare genetic disorder. The goal is to track survival and nervous system changes over time. No new treatments are being tested; instead, researchers are collecting data to better understand…
Sponsor: Sentynl Therapeutics, Inc. • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:10 UTC