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

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Disease Information

Descriptive Information
Brief Title † Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)
Official Title † Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)
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. Patients unable to attend clinics can participate in this study by mailing in their medical information. The investigators will use this information to identify standards of care and improve management.
Detailed Description Participants have the option to be seen in consultation at the McGill University Health Centre in Montreal, Canada, on a yearly basis. This includes a consultation in Genetics, Nutrition, Neurology, and Ophthalmology (OCT and FAF exams). All medical records and images will be collected, retrospectively and prospectively, until the end of the study, and entered anonymously in a database. Molecular testing (through next-generation panel of 75 genes) will be offered to participants whose mutations have not been identified yet. Biospecimens will be collected to identify new biomarkers. Drug screening will be performed on cultured fibroblasts.
Study Phase N/A
Study Type † Observational
Study Design †
Primary Outcome Measure † Documentation of the clinical findings
Secondary Outcome Measure † Peroxisome function testing
Condition † Peroxisome Biogenesis Disorders
Intervention † GeneticNext-generation panel
Study Arms / Comparison Groups Patients diagnosed with PBD Collection of medical records and images (retrospective and prospective), Next-generation panel, Drug screening, and Consultation
Publications *

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information
Recruitment Status † Genetic
Estimated Enrollment † 100
Start Date † January 2012
Completion Date January 2022
Primary Completion Date January 2022
Eligibility Criteria † Inclusion Criteria: - Diagnosis of PBD or - Single peroxisome enzyme defect with phenotype similar to PBD Exclusion Criteria: - Not a PBD - Not a single peroxisome enzyme defect with phenotype similar to PBD
Gender All
Ages N/A - N/A
Accepts Healthy Volunteers No
Contacts †† Nancy E Braverman, MD, MS, (1) 514-934-1934,
Location Countries † Canada
Administrative Information
NCT ID † NCT01668186
Organization ID 11-090-PED
Secondary IDs ††
Responsible Party Sponsor-Investigator
Study Sponsor † Nancy Braverman
Collaborators ††
Investigators † Principal Investigator: Nancy E Braverman, MD, MS, McGill University Health Center, Montreal Childrens Hopital
Information Provided By
Verification Date September 2016
First Received Date † August 10, 2012
Last Updated Date March 21, 2017
† Required WHO trial registration data element.
†† WHO trial registration data element that is required only if it exists.
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