Biomarkers for Hunter Syndrome (BioHunter)

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

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

Study Overview

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

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.

• Study Type: Observational
• Enrollment (Actual): 11

Contacts and Locations

Study Locations

• Mexico
  • Aguascalientes, Mexico
    • Centenario Hospital Miguel Hidalgo
  • Ciudad Victoria, Mexico
    • Hospital Infantil de Tampaulipas
  • Quintana Roo
    • Cancun, Quintana Roo, Mexico, 77533
      • Private Practice
  • Sinaloa
    • Culiacán, Sinaloa, Mexico, 80200
      • Hospital Pediatrico de Sinaloa

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 2 months to 50 years (ADULT, CHILD)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: Male

• Sampling Method: Probability Sample

Study Population

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

Description

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

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

Number of groups / cohorts

1

Cohorts and Interventions

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

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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 Outcome Measures

Outcome Measure	Measure Description	Time Frame
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

Collaborators and Investigators

• Sponsor: CENTOGENE GmbH Rostock

Publications and helpful links

Helpful Links

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

Study record dates

Study Major Dates

• Study Start (ACTUAL): August 20, 2018
• Primary Completion (ACTUAL): December 31, 2022
• Study Completion (ACTUAL): December 31, 2022

Study Registration Dates

• First Submitted: April 4, 2011
• First Submitted That Met QC Criteria: April 4, 2011
• First Posted (ESTIMATE): April 6, 2011

Study Record Updates

• Last Update Posted (ACTUAL): February 10, 2023
• Last Update Submitted That Met QC Criteria: February 8, 2023
• Last Verified: February 1, 2023

More Information

Terms related to this study

• Keywords: Biomarker; Hunter Disease
• Additional Relevant MeSH Terms: Pathologic Processes; Metabolic Diseases; Nervous System Diseases; Neurologic Manifestations; Neurobehavioral Manifestations; Disease; Genetic Diseases, Inborn; Genetic Diseases, X-Linked; Connective Tissue Diseases; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Lysosomal Storage Diseases; Mucinoses; Mental Retardation, X-Linked; Intellectual Disability; Heredodegenerative Disorders, Nervous System; Syndrome; Mucopolysaccharidosis II; Mucopolysaccharidoses
• Other Study ID Numbers: BH 06-2018

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No