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Biomarker for Hypophosphatasia Disease (BioHypophos) (BioHypophos)

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: NCT02603042
Recruitment Status : Recruiting
First Posted : November 11, 2015
Last Update Posted : September 17, 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 Hypophosphatasia disease from plasma

Condition or disease
Defective Mineralization

  Show Detailed Description

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Study Type : Observational
Estimated Enrollment : 1000 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Biomarker for Hypophosphatasia 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

Resource links provided by the National Library of Medicine


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



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


Secondary Outcome Measures :
  1. The Hypophosphatasia 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
For the development of the new biomarkers using the technique of Mass-spectrometry 7, 5 ml EDTA blood and a dry blood spot filter card are taken. To proof the correct di- agnosis of Hypophosphatasia in those patients where up to the enrollment in the study no genetic testing has been done, sequencing of Hypophosphatasia disease 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 Hypophosphatasia disease or high-grade suspicion for Hypophosphatasia disease
Criteria

IInclusion Criteria:

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

    • Positive family anamnesis for Hypophosphatasia disease
    • Frequent fractures
    • Bone pain
    • Tooth loss
    • Osteopenia/Osteoporosis
    • Craniosynostosis

Exclusion Criteria:

  • No Informed consent from the patient or the parents before any study related procedures.
  • Patients of both gender younger than 2 month
  • No diagnosis of Hypophosphatasia disease or no valid criteria for profound suspicion of Hypophosphatasia 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): NCT02603042


Contacts
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Contact: Arndt Rolfs, Prof +4938180113500 ext 500 Arndt.Rolfs@centogene.com
Contact: Arndt Rolfs +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 Active, not recruiting
Rostock, Germany, 18055
India
NIRMAN Navi Mumbai Institute of Research In Mental And Neurological Handicap/Pediatric Geneticist Recruiting
Mumbai, India, 400705
Contact: Anil Jalan, MD         
Sponsors and Collaborators
Centogene AG Rostock

Additional Information:
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Responsible Party: Centogene AG Rostock
ClinicalTrials.gov Identifier: NCT02603042     History of Changes
Other Study ID Numbers: BHP 06-2018
First Posted: November 11, 2015    Key Record Dates
Last Update Posted: September 17, 2019
Last Verified: March 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:
Hypophosphatasia Disease
Biomarker
Additional relevant MeSH terms:
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Hypophosphatasia
Metal Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases