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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 : February 28, 2020
Sponsor:
Information provided by (Responsible Party):
Nancy Braverman, McGill University Health Centre/Research Institute of the McGill University Health Centre

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.

Condition or disease
Peroxisome Biogenesis Disorders D-Bifunctional Protein Deficiency X-linked Adrenoleukodystrophy Alpha-Methylacyl-CoA Racemase Deficiency Peroxisomal Acyl-CoA Oxidase Deficiency Adult Refsum's Disease

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.

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Study Type : Observational
Estimated Enrollment : 150 participants
Observational Model: Cohort
Time Perspective: Other
Official Title: Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)
Study Start Date : January 2012
Estimated Primary Completion Date : January 2022
Estimated Study Completion Date : January 2022


Group/Cohort
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



Primary Outcome Measures :
  1. 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 :
  1. 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.

  2. Development of leukodystrophy [ Time Frame: Yearly up to 10 years ]
    Identification of patterns and course by MRI

  3. Scoring of fundus photography (OCT and FAF) [ Time Frame: Yearly up to 10 years ]
    Identification of patterns and course

  4. Genotype-phenotype correlation [ Time Frame: Yearly up to 10 years ]
    Correlation of mutation type to peroxisome biochemistry, number and type of disease complications.

  5. 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

  6. 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


Biospecimen Retention:   Samples With DNA
blood, dried blood spots, urine, and specimens obtained for other e.g. cultured fibroblasts, liver biopsies


Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Any patient with a PBD diagnosis- or related single enzyme/protein defect
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01668186


Contacts
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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

Locations
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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
McGill University Health Centre/Research Institute of the McGill University Health Centre
Investigators
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Principal Investigator: Nancy E Braverman, MD, MS McGill University Health Center, Montreal Childrens Hopital
Publications:

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Responsible Party: Nancy Braverman, MD, M.Sc. Professor, Depts. of Human Genetics and Pediatrics, McGill University Health Centre/Research Institute of the McGill University Health Centre
ClinicalTrials.gov Identifier: NCT01668186    
Other Study ID Numbers: 11-090-PED
First Posted: August 17, 2012    Key Record Dates
Last Update Posted: February 28, 2020
Last Verified: February 2020
Keywords provided by Nancy Braverman, McGill University Health Centre/Research Institute of the McGill University Health Centre:
Peroxisome biogenesis disorders
Zellweger spectrum
PBD
Rhizomelic chondrodysplasia punctata
RCDP
DBP
ACOX1
AMACR
ARD
XALD
ACBD5
Additional relevant MeSH terms:
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Refsum Disease
Peroxisomal Disorders
Disease
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Hereditary Central Nervous System Demyelinating Diseases
Demyelinating Diseases
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Heredodegenerative Disorders, Nervous System
Metabolic Diseases
Adrenal Gland Diseases
Endocrine System Diseases
Deficiency Diseases
Nutrition Disorders
Neurodegenerative Diseases
Peripheral Nervous System Diseases
Neuromuscular Diseases
Adrenoleukodystrophy
Protein Deficiency
Pathologic Processes
Leukoencephalopathies
Mental Retardation, X-Linked
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Metabolism, Inborn Errors