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Biomarker for Mannosidosis Disease (BioMannosidosis) (BioMannosido)

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: NCT03264040
Recruitment Status : Active, not recruiting
First Posted : August 28, 2017
Last Update Posted : May 13, 2021
Sponsor:
Information provided by (Responsible Party):
CENTOGENE GmbH Rostock

Brief Summary:
Development of a new MS-based biomarker for the early and sensitive diagnosis of Mannosidosis disease from blood (plasma)

Condition or disease
Alpha-Mannosidase B Deficiency Lysosomal Alpha B Mannosidosis Alpha-Mannosidase Deficiency

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Study Type : Observational
Estimated Enrollment : 1000 participants
Observational Model: Cohort
Time Perspective: Prospective
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

Resource links provided by the National Library of Medicine


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



Primary Outcome Measures :
  1. 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.


Secondary Outcome Measures :
  1. 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



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
Sampling Method:   Probability Sample
Study Population
Patients with Mannosidosis disease or high-grade suspicion for Mannosidosis disease
Criteria

Inclusion Criteria:

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

    • Positive family anamnesis for Alpha-Mannosidosis disease
    • rounded eyebrows
    • large head
    • large ears
    • flattened bridge of the nose
    • deformations of the bones in the spine (vertebrae)

Exclusion Criteria:

  • No Informed consent from the patient or the parents before any study related procedures.
  • Patients of both gender younger than 2 months
  • No diagnosis of Alpha-Mannosidosis disease or no valid criteria for profound suspicion of Alpha-Mannosidosis 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): NCT03264040


Locations
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Germany
Centogene GmbH
Rostock, Germany, 18055
India
Navi Mumbai Institute of Research In Mental And Neurological Handicap (NIRMAN)
Mumbai, India, 400705
Sri Lanka
Lady Ridgeway Hospital for Children
Colombo 8, Sri Lanka, 00800c
Sponsors and Collaborators
CENTOGENE GmbH Rostock
Investigators
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Study Chair: Peter Bauer, Prof. Centogene GmbH
Additional Information:
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Responsible Party: CENTOGENE GmbH Rostock
ClinicalTrials.gov Identifier: NCT03264040    
Other Study ID Numbers: BMA 06-2018
First Posted: August 28, 2017    Key Record Dates
Last Update Posted: May 13, 2021
Last Verified: May 2021

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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 GmbH Rostock:
Mannosidosis
Biomarker
Additional relevant MeSH terms:
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Mannosidase Deficiency Diseases
alpha-Mannosidosis
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lysosomal Storage Diseases
Metabolic Diseases