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
|Condition or disease|
|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|
|Study Type :||Observational|
|Estimated Enrollment :||150 participants|
|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|
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
- 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.
- 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
Biospecimen Retention: Samples With DNA
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
|Contact: Nancy E Braverman, MD, MS||(1) 514-934-1934 ext firstname.lastname@example.org|
|Contact: Yasmin D'Souza, MSc, PhD||(1) 514-934-1934 ext email@example.com|
|Research Institute of the McGill University Health Center||Recruiting|
|Montreal, Quebec, Canada, H4A 3J1|
|Principal Investigator: Nancy E Braverman, MD, MS|
|Principal Investigator:||Nancy E Braverman, MD, MS||McGill University Health Center, Montreal Childrens Hopital|