NCT03284658

Brief Summary

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

Trial Health

33
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Timeline
Completed

Started Aug 2018

Typical duration for all trials

Geographic Reach
3 countries

3 active sites

Status
withdrawn

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

September 13, 2017

Completed
2 days until next milestone

First Posted

Study publicly available on registry

September 15, 2017

Completed
11 months until next milestone

Study Start

First participant enrolled

August 20, 2018

Completed
2.5 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

February 28, 2021

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

February 28, 2021

Completed
Last Updated

February 13, 2023

Status Verified

February 1, 2023

Enrollment Period

2.5 years

First QC Date

September 13, 2017

Last Update Submit

February 9, 2023

Conditions

TyrosinosisHepatorenal TyrosinemiaFumarylacetoacetase DeficiencyFah DeficiencyMetabolic Disorders

Keywords

Tyrosinemia Type 1Biomarker

Outcome Measures

Primary Outcomes (1)

  • Sequencing of the Tyrosinemia Type 1 disease related gene

    Next-Generation Sequencing (NGS) of the FAH gene will be performed. The mutation will be confirmed by Sanger sequencing.

    4 weeks

Secondary Outcomes (1)

  • The Tyrosinemia type 1 specific biomarker candidates finding

    24 months

Study Arms (1)

Observation

Patients with a Tyrosinemia type 1 or high-grade suspi-cion for Tyrosinemia type 1

Eligibility Criteria

Age2 Months+
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodProbability Sample
Study Population

Patients with a Tyrosinemia type 1 or high-grade suspi-cion for Tyrosinemia type 1

You may qualify if:

  • 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
  • Positive family anamnesis for Tyrosinemia type 1
  • Hepatomegaly
  • Splenomegaly
  • Ascites
  • Coagulopathy

You may not qualify if:

  • 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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (3)

Centogene AG

Rostock, 18055, Germany

Location

NIRMAN Navi Mumbai Institute of Research In Mental And Neurological Handicap/Pediatric Geneticist

Mumbai, 400705, India

Location

Lady Ridgeway Hospital for Children

Colombo, 00800c, Sri Lanka

Location

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

MeSH Terms

Conditions

TyrosinosisTyrosinemiasMetabolic Diseases

Condition Hierarchy (Ancestors)

Brain Diseases, Metabolic, InbornBrain Diseases, MetabolicBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesAmino Acid Metabolism, Inborn ErrorsMetabolism, Inborn ErrorsGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesNutritional and Metabolic Diseases

Study Officials

  • Peter Bauer, Prof.

    Centogene GmbH

    STUDY CHAIR
0

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
INDUSTRY
Responsible Party
SPONSOR

Study Record Dates

First Submitted

September 13, 2017

First Posted

September 15, 2017

Study Start

August 20, 2018

Primary Completion

February 28, 2021

Study Completion

February 28, 2021

Last Updated

February 13, 2023

Record last verified: 2023-02

Locations

SR(1)DE(1)IN(1)