An observational study in Peroxisome Biogenesis Disorder, Zellweger Spectrum Disorder and RCDP - Rhizomelic Chondrodysplasia Punctata, sponsored by McGill University Health Centre/Research Institute of the McGill University Health Centre. Recruiting at 1 site in Canada. Per ClinicalTrials.gov, last updated 2025-12-10.
Sponsored by McGill University Health Centre/Research Institute of the McGill University Health Centre · Observational
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.
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. Biospecimens will be collected to identify new biomarkers. Candidate drugs will be evaluated for recovery of peroxisome functions in cultured fibroblasts.
McGill University Health Centre/Research Institute of the McGill University Health Centre is the lead sponsor of 414 studies on the registry; 106 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Any patient with a PBD diagnosis- or related single enzyme/protein defect
Exclusion Criteria:
Collection of medical records and images (ultrasounds, X-rays, MRIs, CT scans, ophthalmic images), Next-generation panel, Drug screening, and Consultation
Documentation of the clinical findings
Clinical findings include but are not limited to: life span, growth parameters, development, vision, hearing, neurological examinations, renal problems, adrenal function, skeletal problems, and any other system involvement.
Time frame: Yearly up to 10 years
Peroxisome function testing
To include very long chain saturated, branched and polyunsaturated fatty acids, bile acids, plasmalogens, pipecolic acid, adrenal functions, liver functions, and urine oxalate.
Time frame: Yearly up to 10 years
Development of leukodystrophy
Identification of patterns and course by MRI
Time frame: Yearly up to 10 years
Scoring of fundus photography (OCT and FAF)
Identification of patterns and course
Time frame: Yearly up to 10 years
Genotype-phenotype correlation
Correlation of mutation type to peroxisome biochemistry, number and type of disease complications.
Time frame: Yearly up to 10 years
Frequency of various disease complications and identification of risk factors in the PBD population
Neurological, vision, hearing, liver dysfunction, adrenal insufficiency, osteopenia, renal stones
Time frame: Yearly up to 10 years
Development of care management guideline resource for adolescents and adults with PBD-ZSD
Medical issues (Neurological, vision, hearing, liver dysfunction, adrenal insufficiency, osteopenia, renal stones), main challenges, and the pediatric-to-adult transition experience will be included in PBD-ZSD adult-specific management guidelines
Time frame: Yearly up to 10 years
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Zellweger Syndrome
McGill University Health Centre/Research Institute of the McGill University Health Centre