Biomarkers for Hunter Syndrome

Mucopolysaccharidosis II Clinical Trial

— BioHunter  

Official title:

Biomarkers for Hunter Syndrome: An International, Multicenter, Observational, Longitudinal Protocol

Clinical Trial Details — Status: Terminated

Administrative data

• NCT number: NCT01330277
• Other study ID #: BH 06-2018
• Status: Terminated
• Start date: August 20, 2018
• Est. completion date: December 31, 2022

Study information

• Verified date: February 2023
• Source: CENTOGENE GmbH Rostock
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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

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.

Recruitment information / eligibility

• Status: Terminated
• Enrollment: 11
• Est. completion date: December 31, 2022
• Est. primary completion date: December 31, 2022
• Accepts healthy volunteers: No
• Gender: Male
• Age group: 2 Months to 50 Years

Eligibility

INCLUSION CRITERIA:

• Male individuals
• Informed consent is obtained from the participant's parent/legal guardian
• The participant is aged between 2 months and 50 years of age
• The diagnosis of MPS II is genetically confirmed by CENTOGENE

EXCLUSION CRITERIA:

• Females
• Informed consent is not provided by the participant's parent/legal guardian
• The participant is younger than 2 months or older than 50 years of age
• The diagnosis of MPS II is not genetically confirmed by CENTOGENE

Related Conditions & MeSH terms

• Hunter Syndrome
• Hunter's Canal Syndrome
• Hunter's Syndrome, Mild Form
• Mucopolysaccharidoses
• Mucopolysaccharidosis II
• Syndrome

Locations

Country	Name	City	State
Mexico	Centenario Hospital Miguel Hidalgo	Aguascalientes
Mexico	Private Practice	Cancun	Quintana Roo
Mexico	Hospital Infantil de Tampaulipas	Ciudad Victoria
Mexico	Hospital Pediatrico de Sinaloa	Culiacán	Sinaloa

Sponsors (1)

Lead Sponsor	Collaborator
CENTOGENE GmbH Rostock

Country where clinical trial is conducted

Mexico, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Identifying MPS II biomarkers	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.	36 weeks
Secondary	To explore the clinical robustness, specificity, and long-term variability of MPS II biomarkers	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.	36 months

External Links

•   CENTOGENE is a rare disease company focused on transforming clinical, genetic, and biochemical data into medical solutions for patients.