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

RECRUITINGSponsored by McGill University Health Centre/Research Institute of the McGill University Health Centre
Actively Recruiting
SponsorMcGill University Health Centre/Research Institute of the McGill University Health Centre
Started2012-01
Est. completion2030-01
Eligibility
Healthy vol.Accepted
View on ClinicalTrials.gov →

NCT01668186

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

Healthy volunteers accepted
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

Conditions12

ACBD5 (AcylCoA Binding Domain 5) DeficiencyATP Binding Cassette Subfamily D Member 3 Gene MutationAdult Refsum DiseaseAlpha-Methylacyl-CoA Racemase DeficiencyD-Bifunctional Protein DeficiencyLiver DiseasePeroxisomal Acyl-CoA Oxidase 2 DeficiencyPeroxisomal Acyl-CoA Oxidase DeficiencyPeroxisome Biogenesis DisorderRCDP - Rhizomelic Chondrodysplasia Punctata

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