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Biomarker for the Early Diagnosis and Monitoring in Tyrosinemia Type 1 (BioTyrosin) (BioTyrosin)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT03284658
Recruitment Status : Active, not recruiting
First Posted : September 15, 2017
Last Update Posted : May 18, 2021
Sponsor:
Information provided by (Responsible Party):
CENTOGENE GmbH Rostock

Brief Summary:
Development of a new MS-based biomarker for the early and sensitive diagnosis of Tyrosinemia type 1 from blood (plasma)

Condition or disease
Tyrosinosis Hepatorenal Tyrosinemia Fumarylacetoacetase Deficiency Fah Deficiency Metabolic Disorders

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Study Type : Observational
Estimated Enrollment : 1000 participants
Observational Model: Cohort
Time Perspective: Prospective
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


Group/Cohort
Observation
Patients with a Tyrosinemia type 1 or high-grade suspi-cion for Tyrosinemia type 1



Primary Outcome Measures :
  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.


Secondary Outcome Measures :
  1. 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



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Ages Eligible for Study:   2 Months and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
Patients with a Tyrosinemia type 1 or high-grade suspi-cion for Tyrosinemia type 1
Criteria

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

Information from the National Library of Medicine

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


Locations
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Germany
Centogene AG
Rostock, Germany, 18055
India
NIRMAN Navi Mumbai Institute of Research In Mental And Neurological Handicap/Pediatric Geneticist
Mumbai, India, 400705
Sri Lanka
Lady Ridgeway Hospital for Children
Colombo 8, Sri Lanka, 00800c
Sponsors and Collaborators
CENTOGENE GmbH Rostock
Investigators
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Study Chair: Peter Bauer, Prof. Centogene GmbH
Additional Information:
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Responsible Party: CENTOGENE GmbH Rostock
ClinicalTrials.gov Identifier: NCT03284658    
Other Study ID Numbers: BTY 06-2018
First Posted: September 15, 2017    Key Record Dates
Last Update Posted: May 18, 2021
Last Verified: May 2021
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by CENTOGENE GmbH Rostock:
Tyrosinemia Type 1
Biomarker
Additional relevant MeSH terms:
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Tyrosinemias
Metabolic Diseases
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Amino Acid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn