Observational study of patients with peroxisome biogenesis disorders
Official title: Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)
Run by McGill University Health Centre/Research Institute of the McGill University Health Centre · NCT01668186 · Data updated 2026-11-12
This study is looking to learn more about Peroxisome Biogenesis Disorders by collecting health information from patients to help improve future treatments.
Quick facts
| Study type | Observational |
|---|---|
| Sex | All |
| Enrollment | 244 (estimated) |
| Sponsor | McGill University Health Centre/Research Institute of the McGill University Health Centre Academic / other |
| Locations | 1 site (Montreal, Quebec) |
| Status | Recruiting |
| Started | January 2012 |
| Main results expected | January 2030 |
| Study ends | January 2031 |
| Registry record updated | October 13, 2026 |
| Trial ID | NCT01668186 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates include individuals diagnosed with Peroxisome Biogenesis Disorders or those with a single peroxisome enzyme/protein defect presenting similar phenotypes.
✕Probably not a fit
Patients who do not have a diagnosis of PBD or a related enzyme/protein defect will not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This study aims to systematically characterize the natural history of patients with Peroxisome Biogenesis Disorders (PBD) by collecting clinical, biochemical, and genetic data. Participants will be followed prospectively, with yearly consultations available at the McGill University Health Centre, and data will be gathered from medical evaluations, biospecimens, and imaging studies. For those unable to attend in person, medical records will be collected retrospectively and prospectively for up to five years. The goal is to enhance understanding of the disease spectrum and identify potential biomarkers for future treatments.
Why it matters
Potential benefit: If successful, this study could lead to improved diagnosis and management strategies for patients with PBD.
How similar studies have gone: While there have been studies on peroxisome biology, this approach to systematically document the natural history of PBD is relatively novel.
Who can join: the full rules
Show full inclusion / exclusion criteria
Inclusion Criteria: * Diagnosis of PBD or * Single peroxisome enzyme/protein defect with phenotype similar to PBD Exclusion Criteria: * Not a PBD * Not a single peroxisome enzyme/protein defect with phenotype similar to PBD
Where it's running
-
Research Institute of the McGill University Health Center
Montreal, Quebec, Canada Recruiting
Study contacts
- Principal investigator: Nancy E Braverman, MD, MS — McGill University Health Center, Montreal Childrens Hopital
- Study coordinator: Nancy E Braverman, MD, MS
- Email: nancy.braverman@mcgill.ca
- Phone: (1) 514-934-1934
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.