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

McGill University

Status: Enrolling

Conditions: Peroxisomal Acyl-CoA Oxidase Deficiency; ACBD5 (AcylCoA Binding Domain 5) Deficiency; Alpha-Methylacyl-CoA Racemase Deficiency; ATP Binding Cassette Subfamily D Member 3 Gene Mutation; Sterol Carrier Protein 2 Deficiency; Zellweger Spectrum Disorder; Peroxisomal Acyl-CoA Oxidase 2 Deficiency; D-Bifunctional Protein Deficiency; Adult Refsum Disease; Peroxisome Biogenesis Disorder; RCDP - Rhizomelic Chondrodysplasia Punctata

Study type: Observational

Funder types: Other

Identifiers

NCT01668186

11-090-PED

Details and patient eligibility

About

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.

Full description

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.

Enrollment: 244 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

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

Trial design

244 participants in 1 patient group

Patients diagnosed with a peroxisomal disorder

Description:

Collection of medical records and images (ultrasounds, X-rays, MRIs, CT scans, ophthalmic images), Next-generation panel, Drug screening, and Consultation