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

Status: Recruiting
Location: See location...
Study Type: Observational
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.

Eligibility
Participation Requirements
Sex: All
Healthy Volunteers: f
View:

• Diagnosis of PBD or

• Single peroxisome enzyme/protein defect with phenotype similar to PBD

Locations
Other Locations
Canada
Research Institute of the McGill University Health Center
RECRUITING
Montreal
Contact Information
Primary
Nancy E Braverman, MD, MS
nancy.braverman@mcgill.ca
(1) 514-934-1934
Backup
Evelyn M Zavacky, MSc
pbd.genetics@mcgill.ca
(1) 514-934-1934
Time Frame
Start Date: 2012-01
Estimated Completion Date: 2025-01
Participants
Target number of participants: 244
Treatments
Patients diagnosed with a peroxisomal disorder
Collection of medical records and images (ultrasounds, X-rays, MRIs, CT scans, ophthalmic images), Next-generation panel, Drug screening, and Consultation
Sponsors
Leads: McGill University Health Centre/Research Institute of the McGill University Health Centre

This content was sourced from clinicaltrials.gov