Peroxisome Biogenesis Disorders Natural History Study
The study aims to observe and document the natural progression of symptoms and health issues in individuals with peroxisome biogenesis disorders.
Data Collection
Congenital Abnormalities+33
+ Abnormalities, Multiple
+ Urogenital Diseases
Cohort
Tracking disease incidence in order to identify risk factors and understand disease progression over time.Summary
Study start date: January 1, 2012
Actual date on which the first participant was enrolled.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.
Protocol
This section provides details of the study plan, including how the study is designed and what the study is measuring.244 patients to be enrolled
Total number of participants that the clinical trial aims to recruit.Cohort
Eligibility
Researchers look for people who fit a certain description, called eligibility criteria: person's general health condition or prior treatments.Any sex
Biological sex of participants that are eligible to enroll.Healthy volunteers not allowed
If individuals who are healthy and do not have the condition being studied can participate.Conditions
Pathology
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
Study Plan
Find out more about all the medication administered in this study, their detailed description and what they involve.One single intervention group is designated in this study
This study does not include a placebo group
Treatment Groups
Study Objectives
Primary Objectives
Secondary Objectives
Study Centers
These are the hospitals, clinics, or research facilities where the trial is being conducted. You can find the location closest to you and its status.This study has 1 location
Research Institute of the McGill University Health Center
Montreal, CanadaOpen Research Institute of the McGill University Health Center in Google Maps