Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)
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. Patients unable to attend clinics can participate in this study by mailing in their medical information. The investigators will use this information to identify standards of care and improve management.
Peroxisome Biogenesis Disorders
Genetic: Next-generation panel
Other: Consultation in Ophthalmology
|Study Design:||Observational Model: Cohort|
|Official Title:||Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)|
- Documentation of the clinical findings [ Time Frame: Yearly up to 10 years ] [ Designated as safety issue: No ]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.
- Peroxisome function testing [ Time Frame: Yearly up to 10 years ] [ Designated as safety issue: No ]To include very long chain saturated, branched and polyunsaturated fatty acids, bile acids, plasmalogens, pipecolic acid, adrenal functions, liver functions, and urine oxalate.
- Identification of PEX gene mutations [ Time Frame: Once ] [ Designated as safety issue: No ]Through next-generation panel
- Development of leukodystrophy [ Time Frame: Yearly up to 10 years ] [ Designated as safety issue: No ]Identification of patterns and course by MRI
- Scoring of fundus photography (OCT and FAF) [ Time Frame: Yearly up to 10 years ] [ Designated as safety issue: No ]Identification of patterns and course
- Genotype-phenotype correlation [ Time Frame: Yearly up to 10 years ] [ Designated as safety issue: No ]
- Frequency of various disease complications in the PBD population [ Time Frame: Yearly up to 10 years ] [ Designated as safety issue: No ]
Biospecimen Retention: Samples With DNA
Blood, Dried blood spots, Urine, Cultured fibroblasts
|Study Start Date:||January 2012|
|Estimated Study Completion Date:||January 2022|
|Estimated Primary Completion Date:||January 2017 (Final data collection date for primary outcome measure)|
Patients diagnosed with PBD
Collection of medical records and images (retrospective and prospective), Next-generation panel, Drug screening, and Consultation
Genetic: Next-generation panel
Molecular testing will be offered to participants whose mutations have not been found. Molecular testing will be done with a next-generation panel of 75 genes on a research basis. Genetic counselling services are available to participants.Other: Consultation in Ophthalmology
Participants seen in consultation will have an OCT (optical coherence tomography) eye exam and FAF (fundus autofluorescence) photography.
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. Molecular testing (through next-generation panel of 75 genes) will be offered to participants whose mutations have not been identified yet. Biospecimens will be collected to identify new biomarkers. Drug screening will be performed on cultured fibroblasts.
Please refer to this study by its ClinicalTrials.gov identifier: NCT01668186
|Contact: Nancy E Braverman, MD, MS||(1) 514-934-1934 ext firstname.lastname@example.org|
|Contact: Francois Plourde, MSc, MSc||(1) 514-934-1934 ext email@example.com|
|Montreal Childrens Hospital||Recruiting|
|Montreal, Quebec, Canada, H3Z 2Z3|
|Principal Investigator: Nancy E Braverman, MD, MS|
|Principal Investigator:||Nancy E Braverman, MD, MS||McGill University Health Center, Montreal Childrens Hopital|