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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 September 2016 by McGill University Health Center
Information provided by (Responsible Party):
Nancy Braverman, McGill University Health Center Identifier:
First received: August 10, 2012
Last updated: March 21, 2017
Last verified: September 2016
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.

Condition Intervention
Peroxisome Biogenesis Disorders
Genetic: Next-generation panel
Other: Consultation in Ophthalmology

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Other
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 ]
    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.

Secondary Outcome Measures:
  • 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 ]

Biospecimen Retention:   Samples With DNA
Blood, Dried blood spots, Urine, Cultured fibroblasts

Estimated Enrollment: 100
Study Start Date: January 2012
Estimated Study Completion Date: January 2022
Estimated Primary Completion Date: January 2022 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
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.

Detailed 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. 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.

Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
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: Misia Kowanda, PhD (1) 514-934-1934 ext 23403

Canada, Quebec
Research Institute of the McGill University Health Center Recruiting
Montreal, Quebec, Canada, H4A 3J1
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: March 21, 2017

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

Additional relevant MeSH terms:
Peroxisomal Disorders
Pathologic Processes
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases processed this record on May 25, 2017