Biomarkers for Hunter Syndrome

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

TERMINATED

Total Enrollment

11 participants

Study Classification

OBSERVATIONAL

Study Start Date

2018-08-20

Study Completion Date

2022-12-31

Brief Summary

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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

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Detailed Description

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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.

Conditions

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

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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Participants with Hunter syndrome

Participants diagnosed with Hunter syndrome (Mucopolisaccharidosis type 2) aged between 2 months to 50 years

No interventions assigned to this group

Eligibility Criteria

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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

Minimum Eligible Age

2 Months

Maximum Eligible Age

50 Years

Eligible Sex

MALE

Accepts Healthy Volunteers

No