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

This study is currently recruiting participants. (see Contacts and Locations)
Verified August 2013 by McGill University Health Center
Information provided by (Responsible Party):
Nancy Braverman, McGill University Health Center Identifier:
First received: August 10, 2012
Last updated: August 8, 2013
Last verified: August 2013

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

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)

Resource links provided by NLM:

Further study details as provided by McGill University Health Center:

Primary Outcome Measures:
  • Documentation of the clinical findings [ Time Frame: yearly up to 10 years ] [ Designated as safety issue: No ]
    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 ] [ 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, urine oxalate

  • Identification of PEX gene mutations [ Time Frame: once ] [ Designated as safety issue: No ]

Secondary Outcome Measures:
  • 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 [ Time Frame: yearly up to 10 years ] [ Designated as safety issue: No ]
    Identification of patterns and course

  • Correlation of phenotype with genotype [ Time Frame: yearly up to 10 years ] [ Designated as safety issue: No ]
  • Frequency in the population of various disease complications [ Time Frame: yearly up to 10 years ] [ Designated as safety issue: No ]

Estimated Enrollment: 100
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
Patients diagnosed with PBD


Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

Any patient with a PBD diagnosis


Inclusion Criteria:

  • Diagnosis of PBD or
  • Single peroxisome enzyme defect with phenotype similar to PBD

Exclusion Criteria:

  • Not a PBD
  • Not a single peroxisome enzyme defect with phenotype similar to PBD
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01668186

Contact: Nancy E Braverman, MD, MS (1) 514-934-1934 ext 23404
Contact: Francois Plourde, MSc, MSc (1) 514-934-1934 ext 23403

Canada, Quebec
Montreal Childrens Hospital Recruiting
Montreal, Quebec, Canada, H3Z 2Z3
Principal Investigator: Nancy E Braverman, MD, MS         
Sponsors and Collaborators
Nancy Braverman
Principal Investigator: Nancy E Braverman, MD, MS McGill University Health Center, Montreal Childrens Hopital
  More Information

Responsible Party: Nancy Braverman, MD, M.Sc. Associate Professor, Depts. of Human Genetics and Pediatrics, McGill University Health Center Identifier: NCT01668186     History of Changes
Other Study ID Numbers: 11-090-PED
Study First Received: August 10, 2012
Last Updated: August 8, 2013
Health Authority: Canada: Institutional Review Board

Keywords provided by McGill University Health Center:
Peroxisome biogenesis disorders
Zellweger spectrum
Rhizomelic chondrodysplasia punctata

Additional relevant MeSH terms:
Peroxisomal Disorders
Brain Diseases
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Central Nervous System Diseases
Genetic Diseases, Inborn
Metabolic Diseases
Metabolism, Inborn Errors
Nervous System Diseases
Pathologic Processes processed this record on February 27, 2015