Long-Term Study Tracking Patients With Peroxisome Biogenesis Disorders and Related Conditions to Understand Their Health and Improve Care

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.

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