About Transthyretin Amyloidosis
Transthyretin Amyloidosis is caused by misfolding and extracellular deposition of amyloid fibrils derived from transthyretin, a liver-produced transport protein, in multiple organs including the heart, peripheral nerves, and carpal tunnel. Hereditary ATTR (hATTR), caused by autosomal dominant TTR mutations such as Val30Met and Val122Ile, presents with polyneuropathy and/or cardiomyopathy depending on the variant, while wild-type ATTR (ATTRwt) causes cardiomyopathy exclusively and is substantially underdiagnosed in elderly men with heart failure with preserved ejection fraction. Disease-modifying therapies including TTR stabilisers (tafamidis) and RNA-silencing agents (patisiran, vutrisiran) have transformed the management landscape.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Transthyretin Amyloidosis trials.
Tissue biopsy with amyloid typing (Congo red staining and immunohistochemistry or mass spectrometry) or positive bone scan with genetic TTR testing is required to confirm ATTR vs. AL amyloidosis, a critical distinction for trial eligibility.
Current or prior use of tafamidis or RNA-silencing therapy may influence eligibility for interventional trials; a detailed treatment history with dates is essential.
Functional capacity (6-minute walk test distance and NYHA class) and biomarkers (NT-proBNP, troponin) are standard inclusion and stratification criteria; recent results should be available.
Patient Resources
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