RCDP - Rhizomelic Chondrodysplasia Punctata Clinical Trial
Official title:
Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)
| 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 |
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.
| 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 |
| Country | Name | City | State |
|---|---|---|---|
| Canada | Research Institute of the McGill University Health Center | Montreal | Quebec |
| Lead Sponsor | Collaborator |
|---|---|
| McGill University Health Centre/Research Institute of the McGill University Health Centre |
Canada,
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
| 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 |
| Status | Clinical Trial | Phase | |
|---|---|---|---|
| Recruiting |
NCT04569162 -
Rhizomelic Chondrodysplasia Punctata Registry
|