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peroxisome biogenesis disorder - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

peroxisome biogenesis disorder

MONDO:0019234

Also known as:PBD, ZSSPBD-ZSDperoxisomal biogenesis disorders

Find Clinical TrialsTrials

Overview

Peroxisome 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).

Clinical Trials2 registered · 2 recruiting

Patient Orgs2 organizations · Global Foundation for Peroxisomal Disorders, PBD Project

Diagnosis

Biomarker and diagnostic research for peroxisome biogenesis disorder has been reported in the published literature.

Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

2 clinical trials registered, 2 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

25 publications have been identified in PubMed for peroxisome biogenesis disorder. Research spans Case Report / Case Series (44%), Review / Meta-Analysis (20%), and Basic Science / Preclinical (20%).

Research Type	Count	% of Total
Patient case studies	11	44%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 7:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Patient Support

Patient Advocacy Groups

View all PAGs →

Global Foundation for Peroxisomal DisordersPrimary Focus

USWebsite ↗

PBD Project

USWebsite ↗

Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.

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Medical References

External Resources

Orphanet

European rare disease database

Orphanet:79189

GARD

Genetic and Rare Diseases Info Center

GARD:11890

Questions for Your Care Team

→Are any of the 2 active clinical trials a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→How can I connect with Global Foundation for Peroxisomal Disorders and other patient organizations for support?

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Kisho

peroxisome biogenesis disorder

Overview

Diagnosis

Prognosis

Research Landscape

Patient Support

Patient Advocacy Groups

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Recent Publications

Latest News & Developments

Early hypotonia and visual regression as presenting features of peroxisome biogenesis disorder: an Egyptian case report.

peroxisome biogenesis disorder

Overview

Diagnosis

Prognosis

Research Landscape

Patient Support

Patient Advocacy Groups

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications

Latest News & Developments

Early hypotonia and visual regression as presenting features of peroxisome biogenesis disorder: an Egyptian case report.