Global survey on amyloidosis

We are currently participating in the THAOS project, which is a comprehensive survey for patients with FAP or asymptomatic carriers of the mutation. It is expected to be an international database, in which data collection is standardized and always confidential, and that will enable monitoring the outcome of the cases. A team of experts gets routinely together to review the cases and suggest strategies for each patient. By analyzing these data, e.g., methods for early diagnosis could be evaluated, allowing immediate introduction of treatment and preventing progression.

The CEPARM encourages all the people who: (1) have a diagnosis of FAP or TTR-associated amyloidosis; (2) are asymptomatic carriers of the mutation; (3) are relatives of individuals belonging to these two groups; (4) or those who are in doubt about their condition, to look for the center to take note of THAOS and eventually join him.

The objectives of THAOS are:

  • To understand the natural course of TTR amyloidoses, including the variability and progression of the hereditary and acquired forms of the disease;
  • To describe the genotypes and phenotypes of TTR amyloidoses;
  • To explore the efficacy and evaluate the safety of treatment or interventions in different patient populations;
  • To collect and analyze patient reported outcomes;
  • To inform/suggest evaluation, diagnosis and treatment recommendations for TTR amyloidoses;
  • To generate scientific hypotheses to be tested in prospective studies.

Since new therapies beyond the liver transplant are now becoming real, the early identification of cases is fundamental to the success of treatment, and the importance of genetic counseling is well recognized, we are spreading CEPARM’s work, in order to guide and support the patients at all stages, from diagnosis to treatment, as well as their families, placing the center available to any interested people.