Status:
WITHDRAWN
Biomarker for Pompe Disease (BioPompe)
Lead Sponsor:
CENTOGENE GmbH Rostock
Conditions:
Cardiac Diseases
Muscular Weakness
Eligibility:
All Genders
12+ years
Brief Summary
Development of a new MS-based biomarker for the early and sensitive diagnosis of Pompe disease from blood (plasma)
Detailed Description
Pompe disease is a rare (estimated at 1 in every 40,000 births), inherited and often fatal disorder that disables the heart and muscles. It is caused by mutations in a gene that encodes an enzyme call...
Eligibility Criteria
Inclusion
- Informed consent will be obtained from the patient or the parents before any study related procedures.
- Patients older than 12 months
- The patient has a diagnosis of Pompe disease
Exclusion
- No Informed consent from the patient or the parents before any study related procedures
- Patients younger than 12 months
- The patient has no diagnosis of Pompe disease
Key Trial Info
Start Date :
August 20 2018
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
December 31 2021
Estimated Enrollment :
Patients enrolled
Trial Details
Trial ID
NCT01457443
Start Date
August 20 2018
End Date
December 31 2021
Last Update
February 13 2023
Active Locations (4)
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1
Centogene AG
Rostock, Germany, 18055
2
Amrita Institute of Medical Sciences & Research Centre
Kochi, Kerala, India, 682041
3
Navi Mumbai Institute of Research In Mental And Neurological Handicap (NIRMAN)
Mumbai, India, 400705
4
Lady Ridgeway Hospital for Children
Colombo, Sri Lanka, 00800c