Biomarker for the Early Diagnosis and Monitoring in Tyrosinemia Type 1 (BioTyrosin) (BioTyrosin)
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|ClinicalTrials.gov Identifier: NCT03284658|
Recruitment Status : Active, not recruiting
First Posted : September 15, 2017
Last Update Posted : May 18, 2021
|Condition or disease|
|Tyrosinosis Hepatorenal Tyrosinemia Fumarylacetoacetase Deficiency Fah Deficiency Metabolic Disorders|
|Study Type :||Observational|
|Estimated Enrollment :||1000 participants|
|Official Title:||BioTyrosin - Biomarker for the Early Diagnosis and Monitoring in Tyrosinemia Type 1 - An International, Multicenter, Epidemiological Protocol|
|Actual Study Start Date :||August 20, 2018|
|Estimated Primary Completion Date :||June 2021|
|Estimated Study Completion Date :||June 2021|
Patients with a Tyrosinemia type 1 or high-grade suspi-cion for Tyrosinemia type 1
- Sequencing of the Tyrosinemia Type 1 disease related gene [ Time Frame: 4 weeks ]Next-Generation Sequencing (NGS) of the FAH gene will be performed. The mutation will be confirmed by Sanger sequencing.
- The Tyrosinemia type 1 specific biomarker candidates finding [ Time Frame: 24 months ]The quantitative determination of small molecules (molecular weight 150-700 kD, given as ng/μl) within a dried blood spot sample will be validated via liquid chromatography multiple reaction-monitoring mass spectrometry (LC/MRM-MS) and compared with a merged control cohort. The statistically best validated molecule will be considered as a disease specific biomarker.
Biospecimen Retention: Samples With DNA
For the development of the new biomarkers using the technique of Mass-spectrometry, a blood sample of maximal 7,5 ml blood will be taken from the patient via using a dry blood spot filter card. To proof the correct diagnosis a Tyrosinemia type 1, in those patients where up to the enrollment in the study no genetic testing has been done, sequencing of a Tyrosinemia type 1 will be done.
The analyses will be done at:
Centogene AG Am Strande 7 18055 Rostock Germany
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03284658
|Rostock, Germany, 18055|
|NIRMAN Navi Mumbai Institute of Research In Mental And Neurological Handicap/Pediatric Geneticist|
|Mumbai, India, 400705|
|Lady Ridgeway Hospital for Children|
|Colombo 8, Sri Lanka, 00800c|
|Study Chair:||Peter Bauer, Prof.||Centogene GmbH|