Biomarkers for Hunter Syndrome (BioHunter)
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|ClinicalTrials.gov Identifier: NCT01330277|
Recruitment Status : Recruiting
First Posted : April 6, 2011
Last Update Posted : April 9, 2020
|Condition or disease|
|Hunter Syndrome Mucopolysaccharidosis II Hunter's Syndrome, Mild Form Hunter's Canal Syndrome|
Mucopolysaccharides are long chains of sugar carbohydrates, found within the cells that help build bone, cartilage, tendons, cornea, skin, and connective tissue. Glycosaminoglycans (GAGs) are also found in the fluids that lubricate joints. Mucopolysaccharidosis (MPS) are part of the Lysosomal Storage Disorder (LSD) family, a group of more than 40 genetic diseases, and occur when a particular enzyme exists in a small quantity or is missing altogether. The effect is the accumulation of GAGs in the cells, blood, and connective tissues, resulting in permanent and progressive cellular damage which affects appearance, physical abilities, organ and system functioning and, in most cases, mental development.
MPS2 (also called Hunter syndrome) is a hereditary, progressive, multisystemic disorder, caused by mutations in the IDS gene coding for the enzyme iduronate sulfatase (Ids). It is the only type of mucopolysaccharidosis that is X-linked, therefore, if mothers are carriers, there is a 50 percent chance for males to be born with the disease.
MPS2 has a wide range of symptoms that vary in severity, which can be managed with enzyme replacement therapy (ERT). ERT is unable to cross the blood-brain barrier, therefore it addresses strictly extra-neurological manifestations. On this note, further efforts are being made to develop novel therapies, in the attempt to stop the disease progression and to offer a better quality of life to the patients.
As MPS2 is very rare and many medical professionals only see a few or no patients in their lifelong practice, genetic testing is crucial for diagnosis. This study thrives to identify, validate, and monitor potential biomarker/s for MPS2 in genetically confirmed samples.
|Study Type :||Observational|
|Estimated Enrollment :||1000 participants|
|Official Title:||Biomarkers for Hunter Syndrome: An International, Multicenter, Observational, Longitudinal Protocol|
|Actual Study Start Date :||August 20, 2018|
|Estimated Primary Completion Date :||December 2023|
|Estimated Study Completion Date :||December 2023|
Participants with Hunter syndrome
Participants diagnosed with Hunter syndrome (Mucopolisaccharidosis type 2) aged between 2 months to 50 years
- Identifying MPS II biomarkers [ Time Frame: 36 weeks ]All samples will be analyzed for the identification of biomarker/s via Liquid Chromatography Multiple Reaction-monitoring Mass Spectrometry (LC/MRM-MS) and compared to merged control, in order to establish the disease-specific biomarker/s. The LC/MRM-MS is performed on an ABSciex 6500 triple quadrupole mass spectrometer, coupled with a Waters Acquity UPLC.
- To explore the clinical robustness, specificity, and long-term variability of MPS II biomarkers [ Time Frame: 36 months ]Samples will be analyzed for the identified biomarker candidates via Liquid Chromatography Multiple Reaction-monitoring Mass Spectrometry (LC/MRM-MS) and compared to merged control, in order to establish the disease-specific biomarker/s. The LC/MRM-MS is performed on an ABSciex 6500 triple quadrupole mass spectrometer, coupled with a Waters Acquity UPLC.
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): NCT01330277
|Contact: Volha Skrahina, PhD||+49 (0)3818011359||Volha.Skrahina@centogene.com|
|Contact: Radwa Elkomi||+49 (0)38180113544||Radwa.Elkomi@centogene.com|
|Cancun, Quintana Roo, Mexico, 77533|
|Contact: Alejandro Gaviño Vergara, MD +52 (0)19982423722 firstname.lastname@example.org|
|Principal Investigator: Alejandro Gaviño Vergara, MD|
|Hospital Pediatrico de Sinaloa||Recruiting|
|Culiacán, Sinaloa, Mexico, 80200|
|Contact: Jesus Ernesto Duenas Arias, MD +52 (0)16671023451 email@example.com|
|Principal Investigator: Jesus Ernesto Duenas Arias, MD|
|Centenario Hospital Miguel Hidalgo||Recruiting|
|Contact: Jaime Lopez, MD +52 (0)14491898445 firstname.lastname@example.org|
|Principal Investigator: Jaime Lopez, MD|
|Hospital Infantil de Tampaulipas||Recruiting|
|Ciudad Victoria, Mexico|
|Contact: Astrid Barraza, MD +52 (0)18342588092 email@example.com|
|Principal Investigator: Astrid Barraza, MD|
|Principal Investigator:||Arndt Rolfs, Prof. Dr.||Centogene AG Rostock|