Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)
Launched by MCGILL UNIVERSITY HEALTH CENTRE/RESEARCH INSTITUTE OF THE MCGILL UNIVERSITY HEALTH CENTRE · Aug 14, 2012
Trial Information
Current as of June 28, 2025
Recruiting
Keywords
ClinConnect Summary
This clinical trial is studying a group of inherited disorders called Peroxisome Biogenesis Disorders (PBD), which affect how certain cell structures, called peroxisomes, are formed and function. These disorders can lead to various developmental and metabolic issues, but researchers are still working to fully understand them. The goal of this study is to gather more information about patients with PBD by following their health over time. The study will collect data from medical evaluations, blood tests, urine tests, and imaging studies, both from patients who can visit the clinic and those who cannot. This information will help researchers establish better care standards and improve how these conditions are managed.
To be eligible for this study, participants must have a diagnosed PBD or a similar condition caused by a single enzyme or protein defect. Anyone interested in participating will need to provide their medical records and, if possible, join the study for up to five years. The research team aims to create a comprehensive database of information to better understand these disorders and ultimately help improve treatment options for those affected.
Gender
ALL
Eligibility criteria
- 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
About Mcgill University Health Centre/Research Institute Of The Mcgill University Health Centre
The McGill University Health Centre (MUHC) and the Research Institute of the McGill University Health Centre (RI-MUHC) are leading institutions in clinical research and healthcare innovation. With a commitment to advancing medical knowledge and improving patient outcomes, the MUHC integrates cutting-edge research with high-quality patient care. The RI-MUHC fosters a collaborative environment where multidisciplinary teams engage in transformative research across various fields, including oncology, neurology, and cardiovascular health. By leveraging state-of-the-art facilities and a robust network of clinical expertise, both entities strive to translate scientific discoveries into effective treatments, ultimately enhancing the quality of life for patients locally and globally.
Contacts
Jennifer Cobb
Immunology at National Institute of Allergy and Infectious Diseases (NIAID)
Locations
Montreal, Quebec, Canada
Patients applied
Trial Officials
Nancy E Braverman, MD, MS
Principal Investigator
McGill University Health Center, Montreal Childrens Hopital
Timeline
First submit
Trial launched
Trial updated
Estimated completion
Not reported
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