The Transthyretin Amyloidosis Outcomes Survey (THAOS), established in 2007, is a longitudinal, observational survey open to all clinicians following individuals who are gene carriers for, or who treat patients with, transthyretin amyloidosis.

Transthyretin amyloidosis is a systemic disorder. Disease progression is relentless, with severe debilitation and an average life expectancy of 10 years after symptom onset in the predominantly polyneuropathy phenotype,1‒4 and approximately 5 years in the predominantly cardiomyopathy phenotype.1

The clinical course of the many genetic mutations underlying transthyretin amyloidosis is scarcely known, and for the more common mutations the clinical presentation is complex.1

Data from these subjects participating in the THAOS registry are analyzed on a regular basis and provide a valuable insight into this rare disease and its treatment.

To date, over 4000 subjects are being enrolled in THAOS from 55 active sites in 17 countries worldwide.

  1. Ando Y et al. Guideline of transthyretin-related hereditary amyloidosis from clinicians. Orphanet Journal of Rare Diseases. 2013;8:31.
  2. Planté-Bordeneuve V et al. Diagnostic pitfalls in sporadic transthyretin familial amyloid polyneuropathy (TTR-FAP). Neurology 2007;69:693–698.
  3. Benson MD et al. The molecular biology and clinical features of amyloid neuropathy. Muscle Nerve 2007;36:411–423.
  4. Merlini G et al. The systemic amyloidoses: clearer understanding of the molecular mechanisms offers hope for more effective therapies. J Intern Med 2004;255:159–178.

Objectives of THAOS

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