Biomarkers for Hunter Syndrome

Terminated

• Conditions: Hunter's Syndrome, Mild Form; Mucopolysaccharidosis II; Hunter's Canal Syndrome; Hunter Syndrome

• Registration Number: NCT01330277
• Lead Sponsor: CENTOGENE GmbH Rostock

Brief Summary

International, multicenter, observational, longitudinal study to establish Hunter Syndrom biomarker/s and to explore the clinical robustness, specificity, and long-term variability of these biomarker/s

Detailed Description

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 Timeline

• Study First Submitted: 2011-04-04
• Study First Submitted QC: 2011-04-04
• Study First Posted: 2011-04-06
• Study Start: 2018-08-20
• Primary Completion: 2022-12-31
• Study Completion: 2022-12-31
• Status Verified: 2023-02
• Last Update Submitted: 2023-02-08
• Last Update Posted: 2023-02-10

Recruitment & Eligibility

• Status: TERMINATED
• Sex: Male
• Target Recruitment: 11

Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Identifying MPS II biomarkers	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.

Secondary Outcome Measures

Name	Time	Method
To explore the clinical robustness, specificity, and long-term variability of MPS II biomarkers	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.

Trial Locations

Locations (4)

Centenario Hospital Miguel Hidalgo; 🇲🇽 Aguascalientes, Mexico

Hospital Infantil de Tampaulipas; 🇲🇽 Ciudad Victoria, Mexico

Private Practice; 🇲🇽 Cancun, Quintana Roo, Mexico

Hospital Pediatrico de Sinaloa; 🇲🇽 Culiacán, Sinaloa, Mexico