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Biomarker for Hunter Disease (BioHunter) (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. Identifier: NCT01330277
Recruitment Status : Recruiting
First Posted : April 6, 2011
Last Update Posted : May 14, 2019
Information provided by (Responsible Party):
Centogene AG Rostock

Brief Summary:
To establish the Biomarker of patients with Hunter Disease

Condition or disease
Inguinal Hernia Tonic-clonic Glaucoma

  Show Detailed Description

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Study Type : Observational
Estimated Enrollment : 1000 participants
Observational Model: Cohort
Time Perspective: Prospective
Actual Study Start Date : August 20, 2018
Estimated Primary Completion Date : June 2021
Estimated Study Completion Date : June 2021

Patients with Hunter Disease or profound suspicion for Hunter disease

Primary Outcome Measures :
  1. Sequencing of the Hunter disease related gene [ Time Frame: 4 weeks ]
    Next-Generation Sequencing (NGS) of the IDS gene will be performed. The mutation will be confirmed by Sanger sequencing.

Secondary Outcome Measures :
  1. The Hunter disease specific biomarker candidates finding [ Time Frame: 24 months ]
    The quantitative determination of small molecules (molecular weight 150-700 kD, given as ng/μl) within a dried blood spot sample will be validated via liquid chromatography multiple reaction-monitoring mass spectrometry (LC/MRM-MS) and compared with a merged control cohort. The statistically best validated molecule will be considered as a disease specific biomarker.

Biospecimen Retention:   Samples With DNA
Laboratory parameters are the proof of deficiency or absence of the enzyme iduronate-2-sulfatase (I2S). For this purpose, a 7, 5 ml EDTA-blood or a dry blood spot filter card a will be sent to the central laboratory. The analyses will be done at the Centogene AG Am Strande 7 18055 Rostock Germany

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.

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
Patients with Hunter Disease or profound suspicion for Hunter disease


  • Informed consent will be obtained from the patient and their parents/legal guardians before any study related procedures.
  • Patients of both gender at 1 day of age
  • The patient has a diagnosis of Hunter syndrome based upon biochemical and/or genetic criteria or patients who are profoundly suspicious for Hunter disease
  • High-grade suspicion present, if one or more criteria are valid:

    • Positive family anamnesis for Hunter syndrome
    • Inguinal hernia without identifiable cause
    • Tonic-clonic seizures without identifiable cause
    • Eye symptoms without identifiable cause: corneal clouding or glaucoma
    • Pulmonary symptoms without identifiable cause: upper airway obstruction, cardiopulmonary disease


  • No Informed consent from the patient and their parents/legal guardians before any study related procedures.
  • No diagnosis of Hunter syndrome or no valid criteria for high-grade suspicion of Hunter syndrome

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 identifier (NCT number): NCT01330277

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Contact: Arndt Rolfs, Prof +4938180113500 ext 500

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Pediatric practice Not yet recruiting
Oran, Algeria, 31000
Contact: Abdelmadjid Benmansour, MD         
Hospital de Clinicas de Porto Alegre, Servico de Genetica Medica Recruiting Not yet recruiting
Porto Alegre, Brazil, 90035-003
Contact: Roberto Giugliani, MD         
Hospital de Clinicas de Porto Alegre Not yet recruiting
Porto Alegre, Brazil, 90035-903
Contact: Roberto Giugliani, MD         
University Pediatric Hospital of Sofia Not yet recruiting
Sofia, Bulgaria, 1606
Contact: Radka Tincheva, MD         
Children Hospital, Faculty of Medicine, Cairo University Recruiting
Cairo, Egypt, 11511
Contact: Laila Selim, Prof.         
Centogene AG Recruiting
Rostock, Germany, 18055
Contact: Arndt Rolfs, Prof.         
Aristotle University of Thessaloniki-Ippokration General Hospital Not yet recruiting
Thessaloniki, Greece, 54642
Contact: Dimitrios Zafeiriou, MD         
SOTE Pediatric clinic II, Semmelweis University Not yet recruiting
Budapest, Hungary, 1094
Contact: György Fekete, MD         
Navi Mumbai Institute of Research In Mental And Neurological Handicap (NIRMAN) Recruiting
Mumbai, India, 400705
Contact: Anil Jalan, Dr.         
Iran, Islamic Republic of
Research center University of Welfare Science, Medical Genetics Department Sarem Women Hospital Not yet recruiting
Teheran, Iran, Islamic Republic of, 13969
Contact: Yousef Shafeghati, MD         
The Children's Memorial Health Institute, Department of Metabolic Disease Not yet recruiting
Warsaw, Poland, 04-730
Contact: Anna Tylki-Szymanska, MD         
Mother and Child Health Institute of Serbia- Dr. Vukan Cupic Not yet recruiting
Novi-Beograd, Serbia, 11070
Contact: Adrijan Sarajlija, MD         
Sponsors and Collaborators
Centogene AG Rostock
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Principal Investigator: Arndt Rolfs, Prof. Centogene AG Rostock

Additional Information:
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Responsible Party: Centogene AG Rostock Identifier: NCT01330277     History of Changes
Other Study ID Numbers: BH 06-2018
First Posted: April 6, 2011    Key Record Dates
Last Update Posted: May 14, 2019
Last Verified: January 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

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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

Additional relevant MeSH terms:
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Hernia, Inguinal
Mucopolysaccharidosis II
Hernia, Abdominal
Pathological Conditions, Anatomical
Mental Retardation, X-Linked
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Heredodegenerative Disorders, Nervous System
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Lysosomal Storage Diseases
Connective Tissue Diseases
Metabolic Diseases