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Title [sv]
Nya metoder för förbättrad diagnostik hos patienter med transtyretinamyloidos
Title [en]
Novel methods for improving early and accurate diagnosis of transthyretin amyloidosis
Abstract [en]
Purpose and aimsNovel therapies have emerged for transthyretin (ATTR) amyloidosis, which require early diagnosis. The overall purpose is to develop new methods for an early diagnosis of ATTR amyloidosis. Specific aims include:A) To develope diagnostic tools based on metabolic pathways.B) To evaluate non-invasive imaging tools.C) To apply a diagnostic algorithm for cardiac ATTR in heart failure patients.MethodsA) Plasma from ATTR amyloidosis patients, TTR mutation carries and healthy controls will be analysed at the Swedish Metabolomics Cente, Umeå University by gas chromatography, liguid chromatography and mass spectrometry. B) The amyloid PET tracer 18F-flutametamol, currently used to diagnose Alzheimer´s disease, will be used to characterise amyloid deposits in the CNS of patients with heriditary ATTR amyloidosis and, in the same population, we will also determine if we can visualise how to interpretate PET as non invasive diagnstic tool for ATTR cardiac amyloidosis. C) We plan to investigate the prevalence of cardiac ATTR amyloidosis in heart failure patients selceted from the region of Umeå, using two study arms and a novel diagnostic algorithm previously evaluated in patients with hereditary ATTR amyloidosis.SignificanceEarly diagnosis is cruical for an effective treatment of ATTR amyloidosis. We believe that our project can contribute to that by testing new and established diagnostic tools enabling early and more accurate diagnosis of all forms of ATTR amyloidosis.
Principal InvestigatorLindqvist, Per
Coordinating organisation
Umeå University
Funder
Period
2020-01-01 - 2022-12-31
National Category
Other Clinical Medicine
Identifiers
DiVA, id: project:2117Project, id: 2019-01338_VR

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