NCT01668186 Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)
| NCT ID | NCT01668186 |
| Status | Recruiting |
| Phase | — |
| Sponsor | McGill University Health Centre/Research Institute of the McGill University Health Centre |
| Condition | Peroxisome Biogenesis Disorder |
| Study Type | OBSERVATIONAL |
| Enrollment | 244 participants |
| Start Date | 2012-01 |
| Primary Completion | 2030-01 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 244 participants in total. It began in 2012-01 with a primary completion date of 2030-01.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief 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 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
Contact & Investigator
Nancy E Braverman, MD, MS
PRINCIPAL INVESTIGATOR
McGill University Health Center, Montreal Childrens Hopital
Frequently Asked Questions
Who can join the NCT01668186 clinical trial?
This trial is open to participants of all sexes, studying Peroxisome Biogenesis Disorder. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT01668186 currently recruiting?
Yes, NCT01668186 is actively recruiting participants. Contact the research team at nancy.braverman@mcgill.ca for enrollment information.
Where is the NCT01668186 trial being conducted?
This trial is being conducted at Montreal, Canada.
Who is sponsoring the NCT01668186 clinical trial?
NCT01668186 is sponsored by McGill University Health Centre/Research Institute of the McGill University Health Centre. The principal investigator is Nancy E Braverman, MD, MS at McGill University Health Center, Montreal Childrens Hopital. The trial plans to enroll 244 participants.