Biomarkers for Hunter Syndrome

NCT01330277 | Terminated DMC

• 1 other identifier: BH 06-2018
• Study Type: observational
• Target: 11
• Locations: 1 country
• Sites: 4

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

Conditions

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

Keywords

Hunter Disease; Biomarker

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (1)

• To explore the clinical robustness, specificity, and long-term variability of MPS II biomarkers

  36 months

Study Arms (1)

Participants with Hunter syndrome

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

Eligibility Criteria

• Age: 2 Months - 50 Years
• Gender Eligibility Details: Male
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Probability Sample

Study Population

Male participants with genetically confirmed Hunter syndrome (Mucopolisaccharidosis type 2 or MPS2)

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• CENTOGENE GmbH Rostock: lead

Study Sites (4)

Private Practice

Cancún, Quintana Roo, 77533, Mexico

Location

Hospital Pediatrico de Sinaloa

Culiacán, Sinaloa, 80200, Mexico

Location

Centenario Hospital Miguel Hidalgo

Aguascalientes, Mexico

Location

Hospital Infantil de Tampaulipas

Ciudad Victoria, Mexico

Location

Related Links

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

Biospecimen

Retention: SAMPLES WITH DNA

Blood sample applied on the Dry Blood Spot (DBS) Filtercard (Centocard®)

MeSH Terms

Conditions

Mucopolysaccharidosis II; Sudden Infant Death

Condition Hierarchy (Ancestors)

X-Linked Intellectual Disability; Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Heredodegenerative Disorders, Nervous System; Mucopolysaccharidoses; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Lysosomal Storage Diseases; Mucinoses; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Death, Sudden; Death; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Infant Death

Study Officials

• Arndt Rolfs, Prof. Dr.

  CENTOGENE GmbH Rostock

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 4, 2011
• First Posted: April 6, 2011
• Study Start: August 20, 2018
• Primary Completion: December 31, 2022
• Study Completion: December 31, 2022
• Last Updated: February 10, 2023

Record last verified: 2023-02

Locations

ME (4)