Actively Recruiting
Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)
Led by McGill University Health Centre/Research Institute of the McGill University Health Centre · Updated on 2025-12-10
244
Participants Needed
1
Research Sites
991 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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
Official Title
Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Diagnosis of Peroxisome Biogenesis Disorder (PBD) or
- Single peroxisome enzyme/protein defect with phenotype similar to PBD
You will not qualify if you...
- Not diagnosed with PBD
- Not having a single peroxisome enzyme/protein defect with a phenotype similar to PBD
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
Research Institute of the McGill University Health Center
Montreal, Quebec, Canada, H4A 3J1
Actively Recruiting
Research Team
N
Nancy E Braverman, MD, MS
CONTACT
E
Evelyn M Zavacky, MSc
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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