Status:
COMPLETED
Biomarkers for Inborn Errors of Metabolism
Lead Sponsor:
CENTOGENE GmbH Rostock
Conditions:
Inborn Errors of Metabolism
Biomarker
Eligibility:
All Genders
2-50 years
Brief Summary
International, multicenter, observational, longitudinal study to identify or monitor Inborn Error of Metabolism disease biomarkers and to explore the clinical robustness, specificity, and long-term va...
Detailed Description
Inborn Errors of Metabolism (IEM) are a large group of congenital metabolic disorders, resulting from the absence or abnormality of an enzyme or its cofactor and leading to either accumulation or defi...
Eligibility Criteria
Inclusion
- Informed consent is obtained from the participant or from their parent/legal guardian, before any study related procedures
- The participant aged between 2 months old and 50 years old
- The diagnosis of an Inborn Error of Metabolism is genetically confirmed
Exclusion
- Inability to provide informed consent
- The participant is younger than 2 months old or older than 50 years old
- The diagnosis of an Inborn Error of Metabolism (IEM) is not genetically confirmed
- Previously enrolled in the study
Key Trial Info
Start Date :
August 1 2019
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
March 11 2022
Estimated Enrollment :
462 Patients enrolled
Trial Details
Trial ID
NCT04098198
Start Date
August 1 2019
End Date
March 11 2022
Last Update
March 24 2022
Active Locations (13)
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1
University Hospital Center Mother Teresa
Tirana, Albania, 10001
2
Department of Clinical Genetics, Alexandria University Children's Hospital
Alexandria, Egypt, 21131
3
Department of Pediatrics, Alexandria University Children's Hospital
Alexandria, Egypt, 21131
4
Department of Medical Genetics ,Faculty of Medicine, Ain Shams University
Cairo, Egypt, 11566