Biomarker for the Early Diagnosis and Monitoring in Tyrosinemia Type 1 (BioTyrosin) (NCT03284658) | Clinical Trial Compass
WithdrawnNot Applicable
Biomarker for the Early Diagnosis and Monitoring in Tyrosinemia Type 1 (BioTyrosin)
Stopped: Transition to BioMetabol
Germany, India, Sri Lanka0Started 2018-08-20
Plain-language summary
Development of a new MS-based biomarker for the early and sensitive diagnosis of Tyrosinemia type 1 from blood (plasma)
Who can participate
Age range2 Months
SexALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Inclusion Criteria:
* 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 Criteria:
* 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
What they're measuring
1
Sequencing of the Tyrosinemia Type 1 disease related gene