Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)
Recruiting
Observational Study
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
No Placebo Group
Every participant receives an active treatment — no one gets a placebo.
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
At a Glance
- Sex
- Any
- Study type
- Observational
- Participants needed
- 244 (estimated)
- Sponsor
- McGill University Health Centre/Research Institute of the McGill University Health Centre · Other
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About This Trial
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 popul…
Trial Locations
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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
Contacts