Longitudinal Natural History Study of Patients with Peroxisomal Biogenesis Disorders
The Longitudinal Natural History Study of Patients with Peroxisomal Biogenesis Disorders (PBD) is dedicated to the study of peroxisome biology in health and diseases. Peroxisomal disorders are a group of rare inherited disorders caused by defects in peroxisome function or assembly, causing complex developmental and metabolic sequelae. Despite advances in peroxisome biology, the pathophysiology of peroxisomal disorders remains unknown. The spectrum of phenotypes is poorly characterized and the natural history is not yet systematically reported.
Based in the Dx-PEX-Tx (Diagnosis, PEX genes, Treatment) Laboratory of Dr. Nancy Braverman, this natural history study aims to further define the patient population clinically, biochemically and genetically. Participants are recruited internationally and retrospective data from medical evaluations, blood, urine and imaging are collected. Clinical data and biological samples collected in this study may be stored in a data bank or biobank for future research. The results of this study will help healthcare professionals and caretakers improve the lives of patients with peroxisome conditions. Furthermore, a better understanding of the disease natural history enables the reliable identification of endpoints for future prospective studies and interventional trials.
Research team
News
Role of peroxisomes in innate immune responses (Science Daily)
Research on Rhizomelic Chondrodysplasia Punctata (RCDP) (The New York Times)
Caring for a child with a degenerative rare disease (MUHC)
Champion of the 2017 AmorChem KNOCK OUT event: Team Braverman! (RI-MUHC)
Learn more
Review the details of this clinical study on clinicaltrials.gov
Read more about this team’s current research on the Dx-PEX-Tx Laboratory website
Learn more about peroxisomal disorders on the Global Foundation for Peroxisomal Disorders website
This study is grateful for support from donors to the Montreal Children’s Hospital Foundation. Visit the fundraising page.
Contact us
To contact the Longitudinal Natural History Study on Patients with Peroxisomal Disorders, email pbd.genetics@mcgill.ca
Nancy E. Braverman, MD, M.Sc., FACMG
Principal Investigator of the Dx-PEX-Tx research laboratory
Dr. Braverman is a professor in the Department of Pediatrics at McGill University and senior scientist in the Child Health and Human Development Program at the RI-MUHC, where she conducts research at the Centre for Translational Biology.