Status:
WITHDRAWN
Biomarker for the Early Diagnosis and Monitoring in Tyrosinemia Type 1 (BioTyrosin)
Lead Sponsor:
CENTOGENE GmbH Rostock
Conditions:
Tyrosinosis
Hepatorenal Tyrosinemia
Eligibility:
All Genders
2+ years
Brief Summary
Development of a new MS-based biomarker for the early and sensitive diagnosis of Tyrosinemia type 1 from blood (plasma)
Detailed Description
Hereditary Tyrosinemia type 1 (HT-1) is a rare genetic disorder in which the newborn child lacks the ability to break down the amino acid tyrosine. As a result of this deficiency, toxic sub-stances bu...
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 Tyrosinemia type 1 or a high-grade suspicion for Tyrosinemia type 1
- High-grade suspicion present, if one or more inclusion criteria are valid:
- Positive family anamnesis for Tyrosinemia type 1
- Hepatomegaly
- Splenomegaly
- Ascites
- Coagulopathy
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 Tyrosinemia type 1 or no valid criteria for profound suspicion of Tyrosinemia type 1
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
NCT03284658
Start Date
August 20 2018
End Date
February 28 2021
Last Update
February 13 2023
Active Locations (3)
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1
Centogene AG
Rostock, Germany, 18055
2
NIRMAN Navi Mumbai Institute of Research In Mental And Neurological Handicap/Pediatric Geneticist
Mumbai, India, 400705
3
Lady Ridgeway Hospital for Children
Colombo, Sri Lanka, 00800c