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Biomarker for Hunter Disease (BIOHUNTER)

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ClinicalTrials.gov Identifier: NCT01330277
Recruitment Status : Recruiting
First Posted : April 6, 2011
Last Update Posted : March 20, 2019
Sponsor:
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
Official Title: Biomarker for Hunter Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL
Actual Study Start Date : August 20, 2018
Estimated Primary Completion Date : June 2021
Estimated Study Completion Date : June 2021


Group/Cohort
Observation
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
Criteria

INCLUSION CRITERIA:

  • 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

EXCLUSION CRITERIA:

  • 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 ClinicalTrials.gov identifier (NCT number): NCT01330277


Contacts
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Contact: Anton Mamin, Dr. +49 381 80113 535 Anton.Mamin@centogene.com
Contact: Sanjeev Kumar, Dr. +49-381-80113-591 sanjeev.kumar@centogene.com

Locations
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Algeria
Pediatric practice Not yet recruiting
Oran, Algeria, 31000
Contact: Abdelmadjid Benmansour, MD         
Brazil
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         
Bulgaria
University Pediatric Hospital of Sofia Not yet recruiting
Sofia, Bulgaria, 1606
Contact: Radka Tincheva, MD         
Egypt
Children Hospital, Faculty of Medicine, Cairo University Recruiting
Cairo, Egypt, 11511
Contact: Laila Selim, Prof.         
Germany
Centogene AG Recruiting
Rostock, Germany, 18055
Contact: Arndt Rolfs, Prof.         
Greece
Aristotle University of Thessaloniki-Ippokration General Hospital Not yet recruiting
Thessaloniki, Greece, 54642
Contact: Dimitrios Zafeiriou, MD         
Hungary
SOTE Pediatric clinic II, Semmelweis University Not yet recruiting
Budapest, Hungary, 1094
Contact: György Fekete, MD         
India
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         
Poland
The Children's Memorial Health Institute, Department of Metabolic Disease Not yet recruiting
Warsaw, Poland, 04-730
Contact: Anna Tylki-Szymanska, MD         
Serbia
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
Investigators
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Principal Investigator: Arndt Rolfs, Prof. Centogene AG Rostock

Additional Information:
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Responsible Party: Centogene AG Rostock
ClinicalTrials.gov Identifier: NCT01330277     History of Changes
Other Study ID Numbers: BH 06-2018
First Posted: April 6, 2011    Key Record Dates
Last Update Posted: March 20, 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
Biomarker

Additional relevant MeSH terms:
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Mucopolysaccharidosis II
Hernia, Inguinal
Hernia, Abdominal
Hernia
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
Mucopolysaccharidoses
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Lysosomal Storage Diseases
Mucinoses
Connective Tissue Diseases
Metabolic Diseases