Clinical Trials

 

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

Study Type: Observational
Sponsors: McGill University Health Centre/Research Institute of the McGill University Health Centre
Participants: 150
Abstract
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.
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Facilities
Research Institute of the McGill University Health Center - Recruiting
Montreal, Canada
Contacts
Primary
Nancy E Braverman, MD, MS
nancy.braverman@mcgill.ca
(1) 514-934-1934 ext 23404
Backup
Yasmin D'Souza, MSc, PhD
pbd.genetics@mcgill.ca
(1) 514-934-1934 ext 23403
Eligibilities
Sex: All
Healthy Volunteers: No
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

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