Peroxisome biogenesis disorder due to PEX7 defect

MONDO:0100272

Any peroxisome biogenesis disorder in which the cause of the disease is a mutation in the PEX7 gene.

Also known as: PEX7 related peroxisome biogenesis disorder, adult refsum disease due to PEX7 defect (formerly), rhizomelic chondrodysplasia punctata type 1 (formerly)

8 clinical trials for this condition and its sub-types, 0 tagged with Peroxisome biogenesis disorder due to PEX7 defect itself.

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Where it sits in the disease tree

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Sub-types of Peroxisome biogenesis disorder due to PEX7 defect

Rhizomelic chondrodysplasia punctata type 1 1 trial
Adult Refsum disease due to PEX7 defect 0 trials

Including sub-types (8) Tagged with Peroxisome biogenesis disorder due to PEX7 defect (0)

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 Stopped early

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

Peroxisome biogenesis disorder due to PEX7 defect

Where it sits in the disease tree

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