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

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

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

Brief Summary: 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.

Detailed Summary: 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.
Sponsor: Nancy Braverman

Current Primary Outcome: Documentation of the clinical findings [ Time Frame: Yearly up to 10 years ]

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.


Original Primary Outcome:

  • Documentation of the clinical findings [ Time Frame: Yearly up to 10 years ]
    Clinical findings include life span, growth, development, vision, hearing, neurological examinations, renal problems, adrenal problems skeletal problems and any other system involvement.
  • Peroxisome function testing [ Time Frame: yearly up to 10 years ]
    To include very long chain saturated, branched and polyunsaturated fatty acids, bile acids, plasmalogens, pipecolic acid, adrenal functions, liver functions, urine oxalate
  • Identification of PEX gene mutations [ Time Frame: once ]


Current Secondary Outcome:

  • Peroxisome function testing [ Time Frame: Yearly up to 10 years ]
    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 ]
    Through next-generation panel
  • Development of leukodystrophy [ Time Frame: Yearly up to 10 years ]
    Identification of patterns and course by MRI
  • Scoring of fundus photography (OCT and FAF) [ Time Frame: Yearly up to 10 years ]
    Identification of patterns and course
  • Genotype-phenotype correlation [ Time Frame: Yearly up to 10 years ]
  • Frequency of various disease complications in the PBD population [ Time Frame: Yearly up to 10 years ]


Original Secondary Outcome:

  • Development of leukodystrophy [ Time Frame: Yearly up to 10 years ]
    Identification of patterns and course by MRI
  • Scoring of fundus photography [ Time Frame: Yearly up to 10 years ]
    Identification of patterns and course
  • Correlation of phenotype with genotype [ Time Frame: Yearly up to 10 years ]
  • Frequency in the population of various disease complications [ Time Frame: Yearly up to 10 years ]


Information By: McGill University Health Center

Dates:
Date Received: August 10, 2012
Date Started: January 2012
Date Completion: January 2022
Last Updated: March 21, 2017
Last Verified: September 2016