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Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)
Sponsor: McGill University Health Centre/Research Institute of the McGill University Health Centre
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.
Key Details
Gender
All
Age Range
Any - Any
Study Type
OBSERVATIONAL
Enrollment
244
Start Date
2012-01
Completion Date
2031-01
Last Updated
2025-12-10
Healthy Volunteers
No
Conditions
Locations (1)
Research Institute of the McGill University Health Center
Montreal, Quebec, Canada