Actively Recruiting
All Genders
ID01668186
Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)
Led by McGill University Health Centre/Research Institute of the McGill University Health Centre · Updated on 2025-12-10
244
Participants Needed
1
Research Sites
52 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are studying Peroxisome Biogenesis Disorders (PBD), a group of inherited conditions caused by defects in peroxisome assembly that lead to complex developmental and metabolic problems. The natural history of these disorders is not well understood, and the study aims to better define the clinical, biochemical, and genetic characteristics of affected individuals. This observational study follows patients from Canada, the US, and internationally to improve understanding and management of PBD. Participants may be seen yearly at the McGill University Health Centre in Montreal for consultations in genetics, nutrition, neurology, and ophthalmology, including special eye exams (OCT and FAF). Medical records and images such as ultrasounds, X-rays, MRIs, CT scans, and ophthalmic images are collected both retrospectively and prospectively for up to 10 years. Biospecimens are collected to identify new biomarkers, and candidate drugs are evaluated in laboratory tests. Throughout the study, medical data and images are entered anonymously into a database and carefully monitored. Researchers review clinical findings annually, assess peroxisome function, track disease complications, and study genotype-phenotype correlations. The study also aims to develop care guidelines for adolescents and adults with PBD. Participants' involvement can last up to 10 years, with ongoing collection of medical information and evaluation of disease progression and management.
CONDITIONS
Brief Title
Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)
Who Can Participate
All Genders
Eligibility Criteria
You may qualify if you...
- Diagnosis of Peroxisome Biogenesis Disorder (PBD) or
- Single peroxisome enzyme or protein defect with a phenotype similar to PBD
You will not qualify if you...
- Not diagnosed with PBD
- Not diagnosed with a single peroxisome enzyme or protein defect similar to PBD
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
1
2
3
Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person or remote)
Long-term Monitoring
Duration - Up to 10 years
Participants are observed with yearly consultations including genetics, nutrition, neurology, and ophthalmology exams. Medical records and images are collected over time to track disease progression and outcomes.
Yearly visits (in-person) with multidisciplinary consultations
Trial Site Locations
Total: 1 location
1
Research Institute of the McGill University Health Center
Montreal, Quebec, Canada, H4A 3J1
Actively Recruiting
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Research Team
N
Nancy E Braverman, MD, MS
E
Evelyn M Zavacky, MSc
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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Published Research Related To This Trial
Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines.
Nancy E Braverman, Gerald V Raymond, William B Rizzo...
https://pubmed.ncbi.nlm.nih.gov/26750748Low bone mineral density is a common feature of Zellweger spectrum disorders.
Eric T Rush, Jennifer L Goodwin, Nancy E Braverman...
https://pubmed.ncbi.nlm.nih.gov/26643206A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers.
Michael F Wangler, Leroy Hubert, Taraka R Donti...
https://pubmed.ncbi.nlm.nih.gov/29419819Zellweger Spectrum Disorder: Ophthalmic Findings from a New Natural History Study Cohort and Scoping Literature Review.
Christine Yergeau, Razek G Coussa, Fares Antaki...
https://pubmed.ncbi.nlm.nih.gov/37541626Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case series.
Anthony Cheung, Catherine Argyriou, Christine Yergeau...
https://pubmed.ncbi.nlm.nih.gov/35106698A Retrospective Study of Hearing Loss in Patients Diagnosed with Peroxisome Biogenesis Disorders in the Zellweger Spectrum.
John Lee, Christine Yergeau, Kosuke Kawai...
https://pubmed.ncbi.nlm.nih.gov/34534157