Non-Zellweger spectrum disorder
MONDO:0100322A peroxisome biogenesis disorder which is due to defect in PEX7 or PEX5. This includes rhizomelic chondrodysplasia punctata due to defect in PEX7 or PEX5, and adult Refsum Disease due to defects in PEX7.
Also known as: non-Zellweger spectrum disorder
8 clinical trials for this condition and its sub-types, 0 tagged with Non-Zellweger spectrum disorder itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →Sub-types of Non-Zellweger spectrum disorder
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Peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain 0 trials · 1 incl. sub-types
1 sub-type
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Peroxisome biogenesis disorder due to PEX7 defect 0 trials · 1 incl. sub-types
2 sub-types
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Laser test could objectively measure nerve pain for first time
Diagnosis CompletedThis study tested whether a diode laser can act as a biomarker to measure neuropathic pain in people with peripheral neuropathy. Researchers compared pain responses to a lidocaine patch versus a placebo patch in 75 participants. The goal was to see if the laser test could disting…
Sponsor: University of Utah • Aim: Diagnosis
Last updated Jun 27, 2026 12:09 UTC
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New diagnostic strategy aims to end diagnostic odyssey for rare diseases
Diagnosis CompletedThis study tested a new approach to diagnose peroxisomal disorders, a group of rare genetic diseases. The strategy uses advanced metabolic and genetic tests to find the cause faster in people with suspicious symptoms or lab results. Researchers included 8 participants from four h…
Sponsor: University Hospital, Lille • Aim: Diagnosis
Last updated Jun 27, 2026 08:02 UTC