WI241665 2018 GLOBAL ASPIRE TTR Amyloidosis _ Transthyretin Amyloidosis National Registry - a Prospective Non-interventional, Longitudinal, Observational Multicentre Study

Demographic information, TTR genotype, medical history, family history of the disease, and transplant history are assessed at baseline. On return visits, signs and symptoms of the disease are evaluated, general examinations are conducted, and laboratory data, measures of neurologic and cardiovascular function, and quality of life are assessed according to the standard of care for patients.

Specific Aims and Hypotheses

Our working hypotheses are:

1. TTR amyloidosis affects patients in the population of our country;
2. there are specific TTR mutations in the population of our country;
3. there is genotype-phenotype relationship in hereditary TTR amyloidosis;
4. there are risk factors for TTR amyloidosis in the population of our country. These hypotheses will be tested in our specific aims. In aim 1. we will describe the occurrence of TTR amyloidosis in the population of our country, including the hereditary and acquired forms of the disease.

In aim 2. we will determine and characterize high frequency TTR mutations in the population of our country.