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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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New study tracks eye disease in rare genetic disorder
Knowledge-focused Recruiting nowThis study follows 30 people with Zellweger Spectrum Disorder over 5 years to understand how their vision changes over time. Participants will have yearly vision tests, physical exams, and blood work. The goal is to define the course of retinal degeneration and find the best ways…
Sponsor: McGill University Health Centre/Research Institute of the McGill University Health Centre • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:12 UTC
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Researchers track rare metabolic disorders to unlock secrets
Knowledge-focused Recruiting nowThis study follows people with peroxisome biogenesis disorders (PBD) to learn more about how the disease progresses. Researchers will collect medical records, test results, and images over time from up to 244 participants. No new treatments are being tested; the goal is to better…
Sponsor: McGill University Health Centre/Research Institute of the McGill University Health Centre • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:03 UTC
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Massive leukodystrophy biobank aims to unlock disease secrets
Knowledge-focused Recruiting nowThis study collects medical information and biological samples (like blood or tissue) from up to 12,000 people with leukodystrophies—rare disorders that damage the brain's white matter. Researchers will use this data to find new genetic causes, develop biomarkers for future trial…
Sponsor: Children's Hospital of Philadelphia • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:55 UTC