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History of Changes for Study: NCT01668186
Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)
Latest version (submitted July 4, 2022) on ClinicalTrials.gov
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Study Record Versions
Version A B Submitted Date Changes
1 August 14, 2012 None (earliest Version on record)
2 February 5, 2013 Sponsor/Collaborators, Contacts/Locations, Study Status, Study Design, Study Description and Study Identification
3 August 8, 2013 Contacts/Locations and Study Status
4 June 5, 2015 Outcome Measures, Groups and Interventions, Study Design, Study Status and Study Description
5 December 11, 2015 Contacts/Locations and Study Status
6 September 12, 2016 Study Status and Contacts/Locations
7 March 21, 2017 Study Status and Study Design
8 August 21, 2018 Sponsor/Collaborators, Study Status, Contacts/Locations, Outcome Measures and Study Design
9 February 26, 2020 Sponsor/Collaborators, References, Groups and Interventions, Eligibility, Outcome Measures, Conditions, Study Description, Study Status, Contacts/Locations, Study Design and Study Identification
10 November 3, 2020 Conditions and Study Status
11 April 4, 2022 Study Status, Contacts/Locations, Groups and Interventions and Study Design
12 July 4, 2022 Study Status and Contacts/Locations
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Study NCT01668186
Submitted Date:  August 14, 2012 (v1)

Open or close this module Study Identification
Unique Protocol ID: 1914
Brief Title: Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)
Official Title: Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)
Secondary IDs:
Open or close this module Study Status
Record Verification: August 2012
Overall Status: Recruiting
Study Start: January 2012
Primary Completion: January 2017 [Anticipated]
Study Completion: January 2022 [Anticipated]
First Submitted: August 10, 2012
First Submitted that
Met QC Criteria:
August 14, 2012
First Posted: August 17, 2012 [Estimate]
Last Update Submitted that
Met QC Criteria:
August 14, 2012
Last Update Posted: August 17, 2012 [Estimate]
Open or close this module Sponsor/Collaborators
Sponsor: McGill University Health Centre/Research Institute of the McGill University Health Centre
Responsible Party: Sponsor
Collaborators:
Open or close this module Oversight
U.S. FDA-regulated Drug:
U.S. FDA-regulated Device:
Data Monitoring: No
Open or close this module Study Description
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 and the US and collect data from medical evaluations, blood, urine and imaging studies that would be performed on a clinical care basis. The investigators will use this information to identify standards of care and improve management.
Detailed Description:
Open or close this module Conditions
Conditions: Peroxisome Biogenesis Disorders
Keywords: Peroxisome biogenesis disorders
PBD
Zellweger spectrum
Rhizomelic chondrodysplasia punctata
RCDP
Open or close this module Study Design
Study Type: Observational
Observational Study Model: Cohort
Time Perspective: Prospective
Biospecimen Retention:
Biospecimen Description:
Enrollment: 100 [Anticipated]
Number of Groups/Cohorts 1
Open or close this module Groups and Interventions
Groups/Cohorts Interventions
Patients diagnosed with PBD
Patients diagnosed with PBD
Open or close this module Outcome Measures
Primary Outcome Measures:
1. 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.
2. 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
3. Identification of PEX gene mutations
[ Time Frame: once ]

Secondary Outcome Measures:
1. Development of leukodystrophy
[ Time Frame: yearly up to 10 years ]

Identification of patterns and course by MRI
2. Scoring of fundus photography
[ Time Frame: yearly up to 10 years ]

Identification of patterns and course
3. Correlation of phenotype with genotype
[ Time Frame: yearly up to 10 years ]

4. Frequency in the population of various disease complications
[ Time Frame: yearly up to 10 years ]

Open or close this module Eligibility
Study Population: Any patient with a PBD diagnosis
Sampling Method: Non-Probability Sample
Minimum Age:
Maximum Age:
Sex: All
Gender Based:
Accepts Healthy Volunteers: No
Criteria:

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
Open or close this module Contacts/Locations
Central Contact Person: Nancy E Braverman, MD, MS
Telephone: 514 515 6157
Email: nancy.braverman@mcgill.ca
Central Contact Backup: Rosalie Matys, RN
Telephone: 514 934 1934 Ext. 22072
Email: rosalie.matys@muhc.mcgill.ca
Study Officials: Nancy E Braverman, MD, MS
Principal Investigator
McGill University Health Center, Montreal Childrens Hopital
Locations: Canada, Quebec
Montreal Childrens Hospital
[Recruiting]
Montreal, Quebec, Canada, H3Z 2Z3
Contact:Principal Investigator: Nancy E Braverman, MD, MS
Open or close this module IPDSharing
Plan to Share IPD:
Open or close this module References
Citations: Steinberg SJ, Raymond GV, Braverman NE, Moser AB. Zellweger Spectrum Disorder. 2003 Dec 12 [updated 2020 Oct 29]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022. Available from http://www.ncbi.nlm.nih.gov/books/NBK1448/ PubMed 20301621
Braverman NE, Steinberg SJ, Fallatah W, Duker A, Bober M. Rhizomelic Chondrodysplasia Punctata Type 1. 2001 Nov 16 [updated 2020 Jan 30]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022. Available from http://www.ncbi.nlm.nih.gov/books/NBK1270/ PubMed 20301447
Steinberg SJ, Dodt G, Raymond GV, Braverman NE, Moser AB, Moser HW. Peroxisome biogenesis disorders. Biochim Biophys Acta. 2006 Dec;1763(12):1733-48. Epub 2006 Sep 14. Review. PubMed 17055079
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