Observational study of patients with peroxisome biogenesis disorders
Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)
This study is looking to learn more about Peroxisome Biogenesis Disorders by collecting health information from patients to help improve future treatments.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 244 (estimated) |
| Sex | All |
| Sponsor | McGill University Health Centre/Research Institute of the McGill University Health Centre Academic / other |
| Locations | 1 site (Montreal, Quebec) |
| Trial ID | NCT01668186 on ClinicalTrials.gov |
What this trial studies
This study aims to systematically characterize the natural history of patients with Peroxisome Biogenesis Disorders (PBD) by collecting clinical, biochemical, and genetic data. Participants will be followed prospectively, with yearly consultations available at the McGill University Health Centre, and data will be gathered from medical evaluations, biospecimens, and imaging studies. For those unable to attend in person, medical records will be collected retrospectively and prospectively for up to five years. The goal is to enhance understanding of the disease spectrum and identify potential biomarkers for future treatments.
Who should consider this trial
Good fit: Ideal candidates include individuals diagnosed with Peroxisome Biogenesis Disorders or those with a single peroxisome enzyme/protein defect presenting similar phenotypes.
Not a fit: Patients who do not have a diagnosis of PBD or a related enzyme/protein defect will not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved diagnosis and management strategies for patients with PBD.
How similar studies have performed: While there have been studies on peroxisome biology, this approach to systematically document the natural history of PBD is relatively novel.
Eligibility criteria
Show full inclusion / exclusion 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
Where this trial is running
Montreal, Quebec
- Research Institute of the McGill University Health Center — Montreal, Quebec, Canada (Recruiting)
Study contacts
- Principal investigator: Nancy E Braverman, MD, MS — McGill University Health Center, Montreal Childrens Hopital
- Study coordinator: Nancy E Braverman, MD, MS
- Email: nancy.braverman@mcgill.ca
- Phone: (1) 514-934-1934
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.