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Trial record 17 of 2599 for:    Genetic Diseases, Inborn AND Metabolic

Biomarker for Hurler Disease (BioHurler) (BioHurler)

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ClinicalTrials.gov Identifier: NCT02298712
Recruitment Status : Recruiting
First Posted : November 24, 2014
Last Update Posted : May 14, 2019
Sponsor:
Information provided by (Responsible Party):
Centogene AG Rostock

Brief Summary:
Development of a new MS-based biomarker for the early and sensitive diagnosis of Hurler disease from plasma. Testing for clinical robustness, specificity and long-term stability of the biomarker.

Condition or disease
Mucopolysaccharidosis Type I Gargoylism Metabolism, Inborn Errors

  Show Detailed Description

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Study Type : Observational
Estimated Enrollment : 1000 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Biomarker for Hurler Disease - An International, Multicenter, Epidemiological Protocol
Actual Study Start Date : August 20, 2018
Estimated Primary Completion Date : August 2021
Estimated Study Completion Date : August 2021


Group/Cohort
Observation
Patients with Hurler disease or high-grade suspicion for Hurler disease



Primary Outcome Measures :
  1. Development of a new MS-based biomarker for the early and sensitive diagnosis of Hurler disease from blood [ Time Frame: 24 months ]
    New methods, like mass-spectrometry give a good chance to characterize specific metabolic alterations in the blood of affected patients that allow diagnosing in the future the disease earlier, with a higher sensitivity and specificity.


Secondary Outcome Measures :
  1. Testing for clinical robustness, specificity and long-term stability of the biomarker [ Time Frame: 36 months ]
    the goal of the study to identify and validate a new biochemical marker from the blood of the affected patients helping to benefit other patients by an early diagnose and thereby with an earlier treatment.


Biospecimen Retention:   Samples With DNA

Laboratory Blood Test

For the development of the new biomarkers using the technique of Mass-spectometry, a blood sample of maximal 10 ml blood will be taken via using a dry blood spot filter card. To proof the correct MPS1 diagnosis in those patients where up to the enrolment in the study no genetic testing has been done, sequencing of MPS1 will be done. The analyses will be done at the Centogene AG Am Strande 7 18055 Rostock Germany



Information from the National Library of Medicine

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Ages Eligible for Study:   2 Months and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
Patients with Hurler disease or high-grade suspicion for Hurler disease
Criteria

INCLUSION CRITERIA

  • Informed consent will be obtained from the parents before any study related procedures.
  • Patients of both gender older than 2 month
  • The patient has a diagnosis of Hurler disease or a high-grade suspicion for Hurler disease
  • High-grade suspicion present, if one or more inclusion criteria are valid:

    1. - Positive family anamnesis for Hurler disease
    2. - Macrocephaly
    3. - Deformed bones and stiff joints, especially the spine, hips, knees, wrists and fingers
    4. - Musculoskeletal alterations including short stature
    5. - Developmental delay and/or progressive mental deterioration

EXCLUSION CRITERIA

  • No Informed consent from the parents before any study related procedures.
  • Patients of both gender younger than 2 month
  • No diagnosis of Hurler disease or no valid criteria for profound suspicion of Hurler disease

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): NCT02298712


Contacts
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Contact: Arndt Rolfs, Prof +4938180113500 ext 500 arndt.rolfs@centogene.com

Locations
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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.         
India
Amrita Institute of Medical Sciences & Research Centre Recruiting
Cochin, Kerala, India, 682041
Contact: Sheela Nampoothiri, Dr.    +91 484 2851234    sheelanampoothiri@aims.amrita.edu   
Principal Investigator: Sheela Nampoothiri         
Navi Mumbai Institute of Research In Mental And Neurological Handicap (NIRMAN) Recruiting
Mumbai, India, 400705
Contact: Anil Jalan, Dr.         
Pakistan
Childrens Hospital and Institute of Child Health, Ferozepur Road Recruiting
Lahore, Pakistan, 54600
Contact: Huma Arshad Cheema, Prof.         
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: NCT02298712     History of Changes
Other Study ID Numbers: BHUR 06-2018
First Posted: November 24, 2014    Key Record Dates
Last Update Posted: May 14, 2019
Last Verified: August 2018
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:
Iduronidase
Lysosomal Storage Diseases
Genetic Diseases, Inborn
Biomarker
Hurler-Scheie Syndrome
MPS I
Additional relevant MeSH terms:
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Mucopolysaccharidoses
Metabolism, Inborn Errors
Mucopolysaccharidosis I
Carbohydrate Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lysosomal Storage Diseases
Mucinoses
Connective Tissue Diseases
Metabolic Diseases