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Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)
This study is currently recruiting participants.
Verified September 2016 by Nancy Braverman, McGill University Health Center
Sponsor:
Nancy Braverman
Information provided by (Responsible Party):
Nancy Braverman, McGill University Health Center
ClinicalTrials.gov Identifier:
NCT01668186
First received: August 10, 2012
Last updated: March 21, 2017
Last verified: September 2016
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Purpose
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:
Genetics Home Reference related topics:
D-bifunctional protein deficiency
Zellweger spectrum disorder
alpha-methylacyl-CoA racemase deficiency
peroxisomal acyl-CoA oxidase deficiency
Genetic and Rare Diseases Information Center resources:
Peroxisome Biogenesis disorder-Zellweger Syndrome Spectrum
Peroxisomal Biogenesis Disorders
U.S. FDA Resources
Further study details as provided by Nancy Braverman, 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.
Eligibility| 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
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
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 ClinicalTrials.gov identifier: NCT01668186
Please refer to this study by its ClinicalTrials.gov identifier: NCT01668186
Contacts
| Contact: Nancy E Braverman, MD, MS | (1) 514-934-1934 ext 23404 | nancy.braverman@mcgill.ca | |
| Contact: Misia Kowanda, PhD | (1) 514-934-1934 ext 23403 | pbd.genetics@mcgill.ca |
Locations
| 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
Investigators
| Principal Investigator: | Nancy E Braverman, MD, MS | McGill University Health Center, Montreal Childrens Hopital |
More Information
Publications:
| Responsible Party: | Nancy Braverman, MD, M.Sc. Associate Professor, Depts. of Human Genetics and Pediatrics, McGill University Health Center |
| ClinicalTrials.gov 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 Nancy Braverman, McGill University Health Center:
|
Peroxisome biogenesis disorders PBD Zellweger spectrum Rhizomelic chondrodysplasia punctata RCDP |
Additional relevant MeSH terms:
|
Disease Peroxisomal Disorders Pathologic Processes |
Metabolism, Inborn Errors Genetic Diseases, Inborn Metabolic Diseases |
ClinicalTrials.gov processed this record on August 16, 2017