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

ConditionsPeroxisome Biogenesis DisorderZellweger Spectrum DisorderRCDP - Rhizomelic Chondrodysplasia PunctataD-Bifunctional Protein DeficiencyAlpha-Methylacyl-CoA Racemase DeficiencyPeroxisomal Acyl-CoA Oxidase DeficiencyPeroxisomal Acyl-CoA Oxidase 2 DeficiencyATP Binding Cassette Subfamily D Member 3 Gene MutationACBD5 (AcylCoA Binding Domain 5) DeficiencyAdult Refsum DiseaseSterol Carrier Protein 2 Deficiency
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorMcGill University Health Centre/Research Institute of the McGill University Health Centre

About this trial

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.

Eligibility criteria

This trial does not accept healthy volunteers

Qualifiers

Diagnosis of PBD or

Single peroxisome enzyme/protein defect with phenotype similar to PBD

Disqualifiers

Not a PBD

Not a single peroxisome enzyme/protein defect with phenotype similar to PBD

Trial population

Any patient with a PBD diagnosis- or related single enzyme/protein defect

Trial design

Design model

Cohort

Time perspective

Other

Treatments tested in this trial

Not listed

Trial groups

244 Participants
are grouped into 1 trial group
Group A: Patients diagnosed with a peroxisomal disorder

Trial outcomes

Primary outcomes

1

Documentation of the clinical findings

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.

Time frame
Yearly up to 10 years

Secondary outcomes

1

Peroxisome function testing

To include very long chain saturated, branched and polyunsaturated fatty acids, bile acids, plasmalogens, pipecolic acid, adrenal functions, liver functions, and urine oxalate.

Time frame
Yearly up to 10 years
2

Development of leukodystrophy

Identification of patterns and course by MRI

Time frame
Yearly up to 10 years
3

Scoring of fundus photography (OCT and FAF)

Identification of patterns and course

Time frame
Yearly up to 10 years
4

Genotype-phenotype correlation

Correlation of mutation type to peroxisome biochemistry, number and type of disease complications.

Time frame
Yearly up to 10 years

Other outcomes

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

McGill University Health Centre/Research Institute of the McGill University Health Centre

Lead sponsor

Source ClinicalTrials.gov
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