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Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)

NCT01668186 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 244

Last updated 2025-12-10

No results posted yet for this study

Summary

The Peroxisome Biogenesis Disorders (PBD) are a group of inherited disorders due to defects in peroxisome assembly causing complex developmental and metabolic sequelae. In spite of advancements in peroxisome biology, the pathophysiology remains unknown, the spectrum of phenotypes poorly characterized and the natural history not yet systematically reported. Our aims are to further define this population clinically, biochemically and genetically. The investigators will prospectively follow patients from Canada, the US and internationally, and collect data from medical evaluations, blood, urine and imaging studies that would be performed on a clinical care basis. For patients who are unable to attend our clinic, we will collect all medical records and images since birth as well as subsequent records/images for the next 5 years or until the end of the study. Clinical data from medical records will be banked in our Peroxisomal Disorder Research Databank and Biobank. The investigators will use this information to identify standards of care and improve management.

Conditions

  • Peroxisome Biogenesis Disorder
  • Zellweger Spectrum Disorder
  • RCDP - Rhizomelic Chondrodysplasia Punctata
  • D-Bifunctional Protein Deficiency
  • Alpha-Methylacyl-CoA Racemase Deficiency
  • Peroxisomal Acyl-CoA Oxidase Deficiency
  • Peroxisomal Acyl-CoA Oxidase 2 Deficiency
  • ATP Binding Cassette Subfamily D Member 3 Gene Mutation
  • ACBD5 (AcylCoA Binding Domain 5) Deficiency
  • Adult Refsum Disease
  • Sterol Carrier Protein 2 Deficiency

Sponsors & Collaborators

  • McGill University Health Centre/Research Institute of the McGill University Health Centre

    lead OTHER

Principal Investigators

  • Nancy E Braverman, MD, MS · McGill University Health Center, Montreal Childrens Hopital

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2012-01-31
Primary Completion
2030-01-31
Completion
2031-01-31

Countries

  • Canada

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01668186 on ClinicalTrials.gov