Biomarker for Mannosidosis Disease (BioMannosidosis) (BioMannosido)
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|ClinicalTrials.gov Identifier: NCT03264040|
Recruitment Status : Active, not recruiting
First Posted : August 28, 2017
Last Update Posted : April 3, 2020
|Condition or disease|
|Alpha-Mannosidase B Deficiency Lysosomal Alpha B Mannosidosis Alpha-Mannosidase Deficiency|
|Study Type :||Observational|
|Estimated Enrollment :||1000 participants|
|Official Title:||Biomarker for Mannosidosis 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|
Patients with Mannosidosis disease or high-grade suspicion for Mannosidosis disease
- Development of a new MS-based biomarker for the early and sensitive diagno-sis of Mannosidosis disease from blood (plasma) [ 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.
- Testing for clinical robustness, specificity and long-term stability of the bi-omarker [ 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
For the development of the new biomarkers using the technique of Mass-spectrometry 2,7 ml EDTA blood or a dry blood spot filter card are taken. To proof the correct Mannosidosis diagnosis in those patients where up to the en-rollment in the study no genetic testing has been done, sequencing of Manno-sidosis disease will be done.
The analyses will be done at the Centogene AG Am Strande 7 18055 Rostock Germany
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): NCT03264040
|Rostock, Germany, 18055|
|Navi Mumbai Institute of Research In Mental And Neurological Handicap (NIRMAN)|
|Mumbai, India, 400705|
|Lady Ridgeway Hospital for Children|
|Colombo 8, Sri Lanka, 00800c|
|Principal Investigator:||Arndt Rolfs, Prof.||Centogene AG Rostock|