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Adult Refsum disease due to PEX7 defect

MONDO:0100307

An adult Refsum disease in which the cause of the disease is a mutation in the PEX7 gene.

Also known as: adult Refsum disease due to PEX7 defect

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

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Broader categories

Disease (680) Metabolic disease (233) Nervous system disorder (231) Hereditary disease (176) Neurodegenerative disease (171) Peripheral nervous system disorder (114) Central nervous system disorder (107) Neuromuscular disease (106) Peripheral neuropathy (91) Inborn errors of metabolism (45)

Trials to join now! 5 Completed 2 Terminated 1

Could a simple blood test track nerve damage? a study investigates NT-3 levels in neuropathy.

Knowledge-focused Terminated

This study measures levels of a protein called NT-3 in the blood of people with peripheral neuropathy or Charcot-Marie-Tooth disease. Researchers will compare these levels with measures of muscle strength, mobility, and daily function. The goal is to see whether NT-3 levels corre…

Sponsor: Zarife Sahenk • Aim: Knowledge-focused

Last updated Jul 31, 2026 00:00 UTC