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

Recruiting now

Conditions studied: Peroxisome Biogenesis Disorder, Zellweger Spectrum Disorder, RCDP - Rhizomelic Chondrodysplasia Punctata, D-Bifunctional Protein Deficiency, Alpha-Methylacyl-CoA Racemase Deficiency, Peroxisomal Acyl-CoA Oxidase Deficiency, Peroxisomal Acyl-CoA Oxidase 2 Deficiency, ATP Binding Cassette Subfamily D Member 3 Gene Mutation, ACBD5 (AcylCoA Binding Domain 5) Deficiency, Adult Refsum Disease, Sterol Carrier Protein 2 Deficiency

In brief

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.

Key facts

Study ID

NCT01668186

Run by

McGill University Health Centre/Research Institute of the McGill University Health Centre

People needed

244

Starts

2012-01-01

Expected to finish

2031-01-01

Last updated by the study team

2025-12-10

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• Diagnosis of PBD or
• Single peroxisome enzyme/protein defect with phenotype similar to PBD

You may not qualify if…

• Not a PBD
• Not a single peroxisome enzyme/protein defect with phenotype similar to PBD

Where it is running

• Research Institute of the McGill University Health Center — Montreal, Quebec, Canada (enrolling)

Full record on ClinicalTrials.gov

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