Biomarker for Hunter Disease (BioHunt)
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|ClinicalTrials.gov Identifier: NCT01330277|
Recruitment Status : Terminated (the Albrecht Kossel Institute of University Rostock terminated participation in the study conduct; Study Sponsorship is moved to Centogene AG)
First Posted : April 6, 2011
Last Update Posted : July 2, 2018
|Condition or disease|
|Lysosomal Storage Diseases Hunter Disease Mucopolysaccharidoses|
Hunter disease (mucopolysaccharidosis type II) is a lysosomal storage disease caused by deficiency of the enzyme iduronate-2-sulphatase. Deficiency of iduronate sulphatase enzyme causes accumulation of the products dermatan sulphate and heparan sulphate in lysosomes leading to cell death. Hunter disease can vary from mild to severe, depending on the level of enzyme deficiency. Features of the disease include dwarfism, enlarged liver and spleen, cardiovascular disorders and deafness.
Mutations in the IDS gene located at Xq28 causes loss of the iduronidate sulfatase enzyme. A pseudogene IDS2 also exists 20 kb from the active IDS gene. The pseudogene IDS2 shares homology to exon 2, intron 2, exon 3, intron 3 and intron 7 of the IDS gene.
Mutations that have been reported in the IDS gene in Hunter patients include gene rearrangements caused by recombination with the IDS2 gene (10 per cent patients), deletions of certain exons or the entire IDS gene (10 per cent patients) or small mutations including insertions, deletions and point mutations (80 per cent patients). To detect all possible types of mutations in the IDS gene causing Hunter disease, three procedures are necessary. These include Southern blot to look for gene rearrangements, multiplex dosage analysis to detect large deletions and DHPLC and sequencing to detect small mutations.
An accurate biochemical test is available for the diagnosis of Hunter disease consisting of the analysis of iduronate-2-sulfatase activity in plasma, leucocytes or cultured cells. This test should be considered before molecular analysis is undertaken. Molecular identification of the mutation in individuals with a confirmed diagnosis can be used for carrier testing and prenatal diagnosis in the family. The biochemical test is not reliable for identifying carriers.
|Study Type :||Observational|
|Actual Enrollment :||80 participants|
|Official Title:||Biomarker for Hunter Disease an International, Multicenter, Epidemiological Protocol|
|Study Start Date :||March 2011|
|Actual Primary Completion Date :||June 2018|
|Actual Study Completion Date :||June 2018|
Patients from the first day of life with Hunter Disease based upon biochemical and/or genetic criteria or who are profoundly suspicious for Hunter disease
- Development of a new MS-based biomarker for the early and sensitive diagnosis of Hunter disease from plasma and saliva [ Time Frame: 24 month ]
- Testing for clinical robustness, specificity and long-term stability of the biomarker [ Time Frame: 24 month ]
Biospecimen Retention: Samples With DNA
After inclusion into the study, blood samples will be drawn to identify a deficiency or absence of the enzyme iduronate-2-sulfatase (I2S).
The laboratory examinations of the blood samples will be done exclusively at the Laboratory of the Albrecht-Kossel-Institute, University of Rostock. This laboratory offers an existing infrastructure, a highly standardized quality of the workflow, a short examination time of the samples and a long period of experiences in the assessment of the biological impact of mutations and polymorphism.
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): NCT01330277
|Oran, Algeria, 31000|
|Hospital de Clinicas de Porto Alegre, Servico de Genetica Medica Recruiting|
|Porto Alegre, Brazil, 90035-003|
|Hospital de Clinicas de Porto Alegre|
|Porto Alegre, Brazil, 90035-903|
|University Pediatric Hospital of Sofia|
|Sofia, Bulgaria, 1606|
|University of Rostck, Albrecht-Kossel-Institute for Neuroregeneration|
|Rostock, Germany, 18147|
|Aristotle University of Thessaloniki-Ippokration General Hospital|
|Thessaloniki, Greece, 54642|
|SOTE Pediatric clinic II, Semmelweis University|
|Budapest, Hungary, 1094|
|NIRMAN, University of Mumbai|
|Mumbai, India, 400705|
|Iran, Islamic Republic of|
|Research center University of Welfare Science, Medical Genetics Department Sarem Women Hospital|
|Teheran, Iran, Islamic Republic of, 13969|
|The Children's Memorial Health Institute, Department of Metabolic Disease|
|Warsaw, Poland, 04-730|
|Mother and Child Health Institute of Serbia- Dr. Vukan Cupic|
|Novi-Beograd, Serbia, 11070|
|Principal Investigator:||Arndt Rolfs, MD||University of Rostock, Albrecht-Kossel-Institute for Neuroregeneration|