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Will the FAbry STabilization indEX make its way to everyday clinical practice?
Tereza Cairns1, Christoph Wanner1
1Department of Internal Medicine I, Division of Nephrology, University Hospital Würzburg, Würzburg, Germany.
Clinical Kidney Journal
|February 13, 2019
Summary
Fabry disease severity scoring is challenging. The FASTEX online tool was validated in a large cohort, aiding disease progression assessment in diverse Fabry patients.
Area of Science:
- Biochemistry
- Genetics
- Clinical Medicine
Background:
- Fabry disease is a complex, multisystem inherited enzyme deficiency disorder.
- Previous attempts to establish standardized disease severity scores have not been successful in routine clinical practice.
- Assessing disease progression and severity in Fabry disease remains a clinical challenge.
Purpose of the Study:
- To report on the multicentre application and validation of the FASTEX online tool for assessing Fabry disease progression.
- To evaluate the utility of FASTEX in a large cohort, including females and non-classical phenotypes.
- To share practical experience and discuss limitations and future prospects of the FASTEX tool.
Main Methods:
- Large-scale, multicentre application of the FASTEX online tool.
- Data inputting and graphic illustration of disease progression or stabilization.
- Validation of the tool in a diverse cohort of Fabry patients.
Main Results:
- The FASTEX tool was successfully validated in a large cohort of Fabry patients.
- The tool demonstrated utility in assessing disease progress over time, including in females and those with non-classical phenotypes.
- The study builds upon the initial introduction of FASTEX in 2016.
Conclusions:
- The FASTEX tool offers a validated method for assessing Fabry disease progression in clinical practice.
- Its user-friendly interface and graphic illustration aid in monitoring disease course.
- Further evaluation of limiting factors and future prospects is warranted for optimal clinical integration.
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