Status:
WITHDRAWN
Biomarker for Gangliosidosis: BioGM1/BioGM2 (BioGM1/GM2)
Lead Sponsor:
CENTOGENE GmbH Rostock
Conditions:
Hepato-splenomegaly
Dysostosis Multiplex
Eligibility:
All Genders
2+ years
Brief Summary
Development of a new MS-based biomarker for the ear-ly and sensitive diagnosis of GM1/GM2 from blood
Detailed Description
Gangliosidosis: Gangliosides are complex compunds consisting of a glycosphingolipid and a sialic acid and are located at the cell surface where they are responsible for detecting extracellular molecu...
Eligibility Criteria
Inclusion
- INCLUSION CRITERIA:
- Informed consent will be obtained from the parents before any study related procedures.
- Patients of both genders aged 2 months and older
- The patient has a diagnosis of GM1/GM2-Gangliosidosis or a high-grade suspicion for GM1/GM2-Gangliosidosis
- High-grade suspicion for GM1 or GM2 present, if one or more inclusion criteria are valid:
- Positive family anamnesis for GM1 or GM2 disease
- Neurodegenerative symptoms
- Skeletal symptoms
- Cherry Red Spot
- EXCLUSION CRITERIA:
- No Informed consent from the parents before any study related procedures.
- No diagnosis of GM1/GM2 disease or no valid criteria for profound suspicion of GM1/GM2 -disease
- Patients of both genders younger than 2 months
Exclusion
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
NCT02298647
Start Date
August 20 2018
End Date
February 28 2021
Last Update
February 13 2023
Active Locations (5)
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1
Children's Hospital, Faculty of Medicine, Ain Shams University
Cairo, Egypt, 55131
2
Centogene AG
Rostock, Germany, 18055
3
Amrita Institute of Medical Sciences & Research Centre
Kochi, Kerala, India, 682041
4
Navi Mumbai Institute of Research In Mental And Neurological Handicap (NIRMAN)
Mumbai, India, 400705