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

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ClinicalTrials.gov Identifier: NCT01668186
Recruitment Status : Recruiting
First Posted : August 17, 2012
Last Update Posted : November 5, 2020
Sponsor:
Information provided by (Responsible Party):
Nancy Braverman, McGill University Health Centre/Research Institute of the McGill University Health Centre

Tracking Information
First Submitted Date August 10, 2012
First Posted Date August 17, 2012
Last Update Posted Date November 5, 2020
Study Start Date January 2012
Estimated Primary Completion Date January 2022   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: June 5, 2015)
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 Measures
 (submitted: August 14, 2012)
  • 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 ]
Change History
Current Secondary Outcome Measures
 (submitted: February 26, 2020)
  • 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.
  • 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 ]
    Correlation of mutation type to peroxisome biochemistry, number and type of disease complications.
  • Frequency of various disease complications and identification of risk factors in the PBD population [ Time Frame: Yearly up to 10 years ]
    Neurological, vision, hearing, liver dysfunction, adrenal insufficiency, osteopenia, renal stones
  • Development of care management guideline resource for adolescents and adults with PBD-ZSD [ Time Frame: Yearly up to 10 years ]
    Medical issues (Neurological, vision, hearing, liver dysfunction, adrenal insufficiency, osteopenia, renal stones), main challenges, and the pediatric-to-adult transition experience will be included in PBD-ZSD adult-specific management guidelines
Original Secondary Outcome Measures
 (submitted: August 14, 2012)
  • 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 ]
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
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)
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. 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.
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. Biospecimens will be collected to identify new biomarkers. Candidate drugs will be evaluated for recovery of peroxisome functions in cultured fibroblasts.
Study Type Observational
Study Design Observational Model: Cohort
Time Perspective: Other
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
Description:
blood, dried blood spots, urine, and specimens obtained for other e.g. cultured fibroblasts, liver biopsies
Sampling Method Non-Probability Sample
Study Population Any patient with a PBD diagnosis- or related single enzyme/protein defect
Condition
  • Peroxisome Biogenesis Disorder
  • Zellweger Spectrum Disorder
  • RCDP - Rhizomelic Chondrodysplasia Punctata
  • D-Bifunctional Protein Deficiency
  • Alpha-Methylacyl-CoA Racemase Deficiency
  • Peroxisomal Acyl-CoA Oxidase Deficiency
  • Peroxisomal Acyl-CoA Oxidase 2 Deficiency
  • ATP Binding Cassette Subfamily D Member 3 Gene Mutation
  • ACBD5 (AcylCoA Binding Domain 5) Deficiency
  • Adult Refsum Disease
  • Sterol Carrier Protein 2 Deficiency
Intervention Not Provided
Study Groups/Cohorts Patients diagnosed with PBD
Collection of medical records and images (ultrasounds, X-rays, MRIs, CT scans, ophthalmic images), Next-generation panel, Drug screening, and Consultation
Publications *

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: August 21, 2018)
150
Original Estimated Enrollment
 (submitted: August 14, 2012)
100
Estimated Study Completion Date January 2022
Estimated Primary Completion Date January 2022   (Final data collection date for primary outcome measure)
Eligibility Criteria

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
Sex/Gender
Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers No
Contacts
Contact: Nancy E Braverman, MD, MS (1) 514-934-1934 ext 23404 nancy.braverman@mcgill.ca
Contact: Yasmin D'Souza, MSc, PhD (1) 514-934-1934 ext 23403 pbd.genetics@mcgill.ca
Listed Location Countries Canada
Removed Location Countries  
 
Administrative Information
NCT Number NCT01668186
Other Study ID Numbers 11-090-PED
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party Nancy Braverman, McGill University Health Centre/Research Institute of the McGill University Health Centre
Study Sponsor McGill University Health Centre/Research Institute of the McGill University Health Centre
Collaborators Not Provided
Investigators
Principal Investigator: Nancy E Braverman, MD, MS McGill University Health Center, Montreal Childrens Hopital
PRS Account McGill University Health Centre/Research Institute of the McGill University Health Centre
Verification Date November 2020