Clinical trial NCT01330277: Biomarkers for Hunter Syndrome
Official title: Biomarkers for Hunter Syndrome: An International, Multicenter, Observational, Longitudinal Protocol
Study type: OBSERVATIONAL
Overall status: TERMINATED
Conditions: Hunter Syndrome
Mucopolysaccharidosis II
Hunter's Syndrome, Mild Form
Hunter's Canal Syndrome
Keywords: Hunter Disease
Biomarker
Lead sponsor: CENTOGENE GmbH Rostock
Sponsor class: INDUSTRY
First posted: 2011-04-06
Enrollment: 11
Sex: MALE
Minimum age (years): 2
Maximum age (years): 50
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: Male participants with genetically confirmed Hunter syndrome (Mucopolisaccharidosis type 2 or MPS2)

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.

Eligibility criteria: 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

Primary outcomes:
measure: Identifying MPS II biomarkers
timeFrame: 36 weeks
Secondary outcomes:
measure: To explore the clinical robustness, specificity, and long-term variability of MPS II biomarkers
timeFrame: 36 months
Other outcomes:
Locations:
city: Cancun
country: Mexico
facility: Private Practice
state: Quintana Roo
city: Culiacán
country: Mexico
facility: Hospital Pediatrico de Sinaloa
state: Sinaloa
city: Aguascalientes
country: Mexico
facility: Centenario Hospital Miguel Hidalgo
city: Ciudad Victoria
country: Mexico
facility: Hospital Infantil de Tampaulipas
Study officials:
affiliation: CENTOGENE GmbH Rostock
name: Arndt Rolfs, Prof. Dr.
role: PRINCIPAL_INVESTIGATOR
References: