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. Read our disclaimer for details.|
|ClinicalTrials.gov Identifier: NCT02603042|
Recruitment Status : Active, not recruiting
First Posted : November 11, 2015
Last Update Posted : April 3, 2020
|Condition or disease|
|Study Type :||Observational|
|Estimated Enrollment :||1000 participants|
|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|
Patients with Hypophosphatasia disease or high-grade suspicion for Hypophosphatasia disease
- 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.
- 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
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
|Rostock, Germany, 18055|
|NIRMAN Navi Mumbai Institute of Research In Mental And Neurological Handicap/Pediatric Geneticist|
|Mumbai, India, 400705|
|Lady Ridgeway Hospital for Children|
|Colombo 8, Sri Lanka, 00800c|