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Clinical Trial Details — Status: Recruiting

Administrative data

NCT number NCT01668186
Other study ID # 11-090-PED
Secondary ID
Status Recruiting
Phase
First received
Last updated
Start date January 2012
Est. completion date January 2025

Study information

Verified date October 2023
Source McGill University Health Centre/Research Institute of the McGill University Health Centre
Contact Nancy E Braverman, MD, MS
Phone (1) 514-934-1934
Email nancy.braverman@mcgill.ca
Is FDA regulated No
Health authority
Study type Observational

Clinical Trial 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.


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.


Recruitment information / eligibility

Status Recruiting
Enrollment 244
Est. completion date January 2025
Est. primary completion date January 2025
Accepts healthy volunteers No
Gender All
Age group N/A and older
Eligibility 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

Study Design


Related Conditions & MeSH terms


Locations

Country Name City State
Canada Research Institute of the McGill University Health Center Montreal Quebec

Sponsors (1)

Lead Sponsor Collaborator
McGill University Health Centre/Research Institute of the McGill University Health Centre

Country where clinical trial is conducted

Canada, 

References & Publications (5)

Braverman NE, Raymond GV, Rizzo WB, Moser AB, Wilkinson ME, Stone EM, Steinberg SJ, Wangler MF, Rush ET, Hacia JG, Bose M. Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines. Mol Genet Metab. 2016 Mar;117(3):313-21. doi: 10.1016/j.ymgme.2015.12.009. Epub 2015 Dec 23. — View Citation

Braverman NE, Steinberg SJ, Fallatah W, Duker A, Bober MB. Rhizomelic Chondrodysplasia Punctata Type 1. 2001 Nov 16 [updated 2020 Jan 30]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from http://www.ncbi.nlm.nih.gov/books/NBK1270/ — View Citation

Rush ET, Goodwin JL, Braverman NE, Rizzo WB. Low bone mineral density is a common feature of Zellweger spectrum disorders. Mol Genet Metab. 2016 Jan;117(1):33-7. doi: 10.1016/j.ymgme.2015.11.009. Epub 2015 Nov 24. — View Citation

Steinberg SJ, Raymond GV, Braverman NE, Moser AB. Zellweger Spectrum Disorder. 2003 Dec 12 [updated 2020 Oct 29]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from http://www.ncbi.nlm.nih.gov/books/NBK1448/ — View Citation

Wangler MF, Hubert L, Donti TR, Ventura MJ, Miller MJ, Braverman N, Gawron K, Bose M, Moser AB, Jones RO, Rizzo WB, Sutton VR, Sun Q, Kennedy AD, Elsea SH. A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers. Genet Med. 2018 Oct;20(10):1274-1283. doi: 10.1038/gim.2017.262. Epub 2018 Feb 8. — View Citation

Outcome

Type Measure Description Time frame Safety issue
Primary 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. Yearly up to 10 years
Secondary 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. Yearly up to 10 years
Secondary Development of leukodystrophy Identification of patterns and course by MRI Yearly up to 10 years
Secondary Scoring of fundus photography (OCT and FAF) Identification of patterns and course Yearly up to 10 years
Secondary Genotype-phenotype correlation Correlation of mutation type to peroxisome biochemistry, number and type of disease complications. Yearly up to 10 years
Secondary Frequency of various disease complications and identification of risk factors in the PBD population Neurological, vision, hearing, liver dysfunction, adrenal insufficiency, osteopenia, renal stones Yearly up to 10 years
Secondary Development of care management guideline resource for adolescents and adults with PBD-ZSD 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 Yearly up to 10 years
See also
  Status Clinical Trial Phase
Recruiting NCT04569162 - Rhizomelic Chondrodysplasia Punctata Registry