Peroxisome biogenesis disorder
MONDO:0019234Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD).
Also known as: PBD, ZSS, PBD-ZSD, peroxisomal biogenesis disorders, peroxisomal biogenesis disorders, Zellweger syndrome spectrum, peroxisome biogenesis disorder, peroxisome biogenesis disorder spectrum, peroxisome biogenesis disorder-Zellweger syndrome spectrum, peroxisome biogenesis disorders, Zellweger syndrome spectrum
15 clinical trials for this condition and its sub-types, 4 tagged with Peroxisome biogenesis disorder itself.
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Sub-types of Peroxisome biogenesis disorder
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Zellweger spectrum disorders 6 trials · 7 incl. sub-types
15 sub-types
- Peroxisome biogenesis disorder due to PEX1 defect 0 trials · 1 incl. sub-types Sub-types →
- Peroxisome biogenesis disorder 9B 0 trials
- Peroxisome biogenesis disorder due to PEX10 defect 0 trials Sub-types →
- Peroxisome biogenesis disorder due to PEX11B defect 0 trials Sub-types →
- Peroxisome biogenesis disorder due to PEX12 defect 0 trials Sub-types →
- Peroxisome biogenesis disorder due to PEX13 defect 0 trials Sub-types →
- Peroxisome biogenesis disorder due to PEX14 defect 0 trials Sub-types →
- Peroxisome biogenesis disorder due to PEX16 defect 0 trials Sub-types →
- Peroxisome biogenesis disorder due to PEX19 defect 0 trials Sub-types →
- Peroxisome biogenesis disorder due to PEX2 defect 0 trials Sub-types →
- Peroxisome biogenesis disorder due to PEX26 defect 0 trials Sub-types →
- Peroxisome biogenesis disorder due to PEX3 defect 0 trials Sub-types →
- Peroxisome biogenesis disorder due to PEX5 defect 0 trials Sub-types →
- Peroxisome biogenesis disorder due to PEX6 defect 0 trials Sub-types →
- Peroxisome biogenesis disorder, complementation group 2 0 trials
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Non-Zellweger spectrum disorder 0 trials · 1 incl. sub-types
2 sub-types
- Peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain 0 trials · 1 incl. sub-types Sub-types →
- Peroxisome biogenesis disorder due to PEX7 defect 0 trials · 1 incl. sub-types Sub-types →
Most studied deeper 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
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Could a single DNA test solve the mystery of rare brain diseases in kids?
Knowledge-focused CompletedThis study looked at whether whole genome sequencing (a complete read of a person's DNA) can help diagnose leukodystrophies, a group of rare brain diseases that are hard to identify. Researchers enrolled 236 children with white matter abnormalities on brain scans but no known gen…
Sponsor: Children's Hospital of Philadelphia • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:56 UTC