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 stem cell approach aims to tame rare genetic diseases
Disease control OngoingThis study tests a stem cell transplant method for people with inherited metabolic disorders and severe osteopetrosis. The goal is to get the donor cells to take hold while keeping side effects low. Participants receive chemotherapy drugs before the transplant to prepare their bo…
Phase 2 • Sponsor: Masonic Cancer Center, University of Minnesota • Aim: Disease control
Last updated Jun 27, 2026 08:09 UTC
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Newborn screening study aims to catch rare diseases at birth
Diagnosis OngoingThis study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…
Sponsor: RTI International • Aim: Diagnosis
Last updated Jul 03, 2026 00:00 UTC
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Can a decade of real-world data refine treatment for rare bile acid disorders?
Knowledge-focused OngoingThis study is a patient registry that will follow people of any age with bile acid synthesis disorders who are treated with Cholbam (cholic acid). The goal is to collect information over 10 years on how the drug performs in routine clinical care, including its safety, effectivene…
Sponsor: Mirum Pharmaceuticals, Inc. • Aim: Knowledge-focused
Last updated Aug 02, 2026 00:00 UTC