Working…
COVID-19 is an emerging, rapidly evolving situation.
Get the latest public health information from CDC: https://www.coronavirus.gov.

Get the latest research information from NIH: https://www.nih.gov/coronavirus.
ClinicalTrials.gov
ClinicalTrials.gov Menu

Biomarkers for Hunter Syndrome (BioHunter)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT01330277
Recruitment Status : Recruiting
First Posted : April 6, 2011
Last Update Posted : April 9, 2020
Sponsor:
Information provided by (Responsible Party):
Centogene AG Rostock

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

Condition or disease
Hunter Syndrome Mucopolysaccharidosis II 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.

Layout table for study information
Study Type : Observational
Estimated Enrollment : 1000 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Biomarkers for Hunter Syndrome: An International, Multicenter, Observational, Longitudinal Protocol
Actual Study Start Date : August 20, 2018
Estimated Primary Completion Date : December 2023
Estimated Study Completion Date : December 2023


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



Primary Outcome Measures :
  1. Identifying MPS II biomarkers [ Time Frame: 36 weeks ]
    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.


Secondary Outcome Measures :
  1. To explore the clinical robustness, specificity, and long-term variability of MPS II biomarkers [ Time Frame: 36 months ]
    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.


Biospecimen Retention:   Samples With DNA
Blood sample applied on the Dry Blood Spot (DBS) Filtercard (Centocard®)


Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


Layout table for eligibility information
Ages Eligible for Study:   2 Months to 50 Years   (Child, Adult)
Sexes Eligible for Study:   Male
Gender Based Eligibility:   Yes
Gender Eligibility Description:   Male
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
Male participants with genetically confirmed Hunter syndrome (Mucopolisaccharidosis type 2 or MPS2)
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01330277


Contacts
Layout table for location contacts
Contact: Volha Skrahina, PhD +49 (0)3818011359 Volha.Skrahina@centogene.com
Contact: Radwa Elkomi +49 (0)38180113544 Radwa.Elkomi@centogene.com

Locations
Layout table for location information
Mexico
Private Practice Recruiting
Cancun, Quintana Roo, Mexico, 77533
Contact: Alejandro Gaviño Vergara, MD    +52 (0)19982423722    drgavino@live.com.mx   
Principal Investigator: Alejandro Gaviño Vergara, MD         
Hospital Pediatrico de Sinaloa Recruiting
Culiacán, Sinaloa, Mexico, 80200
Contact: Jesus Ernesto Duenas Arias, MD    +52 (0)16671023451    jedanet@gmail.com   
Principal Investigator: Jesus Ernesto Duenas Arias, MD         
Centenario Hospital Miguel Hidalgo Recruiting
Aguascalientes, Mexico
Contact: Jaime Lopez, MD    +52 (0)14491898445    jasad16@yahoo.com.mx   
Principal Investigator: Jaime Lopez, MD         
Hospital Infantil de Tampaulipas Recruiting
Ciudad Victoria, Mexico
Contact: Astrid Barraza, MD    +52 (0)18342588092    astridbarraza@hotmail.com   
Principal Investigator: Astrid Barraza, MD         
Sponsors and Collaborators
Centogene AG Rostock
Investigators
Layout table for investigator information
Principal Investigator: Arndt Rolfs, Prof. Dr. Centogene AG Rostock
Additional Information:
Layout table for additonal information
Responsible Party: Centogene AG Rostock
ClinicalTrials.gov Identifier: NCT01330277    
Other Study ID Numbers: BH 06-2018
First Posted: April 6, 2011    Key Record Dates
Last Update Posted: April 9, 2020
Last Verified: April 2020
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

Layout table for additional information
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Centogene AG Rostock:
Hunter Disease
Biomarker
Additional relevant MeSH terms:
Layout table for MeSH terms
Mucopolysaccharidosis II
Mucopolysaccharidoses
Syndrome
Disease
Pathologic Processes
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lysosomal Storage Diseases
Mucinoses
Connective Tissue Diseases
Metabolic Diseases
Mental Retardation, X-Linked
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Genetic Diseases, X-Linked
Heredodegenerative Disorders, Nervous System