Biomarkers for Hunter Syndrome (BioHunter)

CENTOGENE

Status: Terminated

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

Study type: Observational

Funder types: Industry

Identifiers

NCT01330277

BH 06-2018

Details and patient eligibility

About

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

Full 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.

Enrollment: 11 patients

Sex: Male

Ages: 2 months to 50 years old

Volunteers: No Healthy Volunteers

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

Trial design

11 participants in 1 patient group

Participants with Hunter syndrome

Description:

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