Status:
WITHDRAWN
Biomarker for Mannosidosis Disease (BioMannosidosis)
Lead Sponsor:
CENTOGENE GmbH Rostock
Conditions:
Alpha-Mannosidase B Deficiency
Lysosomal Alpha B Mannosidosis
Eligibility:
All Genders
2+ years
Brief Summary
Development of a new MS-based biomarker for the early and sensitive diagnosis of Mannosidosis disease from blood (plasma)
Detailed Description
Alpha-Mannosidosis is a rare lysosomal storage disorder of the Glycoprotein family of diseases and is closely related to Mucopolysaccharidoses. Alpha-Mannosidosis was first described by Dr Oekerman, ...
Eligibility Criteria
Inclusion
- 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
- 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
Key Trial Info
Start Date :
August 20 2018
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
February 28 2021
Estimated Enrollment :
Patients enrolled
Trial Details
Trial ID
NCT03264040
Start Date
August 20 2018
End Date
February 28 2021
Last Update
February 13 2023
Active Locations (3)
Enter a location and click search to find clinical trials sorted by distance.
1
Centogene GmbH
Rostock, Germany, 18055
2
Navi Mumbai Institute of Research In Mental And Neurological Handicap (NIRMAN)
Mumbai, India, 400705
3
Lady Ridgeway Hospital for Children
Colombo, Sri Lanka, 00800c