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Peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain

MONDO:0100265

Any peroxisome biogenesis disorder due to PEX5 in which the cause of the disease is a mutation in the PEX7-binding domain of the PEX5 gene.

Also known as: peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain

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

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Sub-types

Rhizomelic chondrodysplasia punctata type 5 (1)

Broader categories

Disease (680) Metabolic disease (233) Nervous system disorder (231) Musculoskeletal system disorder (207) Inherited lipid metabolism disorder (189) Hereditary disease (176) Neurodegenerative disease (171) Peripheral nervous system disorder (114) Central nervous system disorder (107) Neuromuscular disease (106)
Trials to join now! 6 Completed 2 Terminated 1
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  • 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

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