Observational studyOrphanet journal of rare diseases2022
Clinical and genetic profile of patients enrolled in the Transthyretin Amyloidosis Outcomes Survey (THAOS): 14-year update.
Observational study in Orphanet journal of rare diseases, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 43 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Transthyretin Amyloidosis Outcomes Survey (THAOS): A Global, Multi-Center, Longitudinal, Observational Survey of Patients With Documented Transthyretin Gene Mutations or Wild-Type Transthyretin Amyloidosis.
Prevalence of Wild-type TTR Cardiac Amyloidosis in Patients With Polyneuropathy of Unknown Cause: a Prospective Monocentric Study (CAP-TTR)
Who cites it
43 citing papers in PubMed, 84 citations in OpenAlex.
- Disease-Modifying Therapies for Hereditary Transthyretin Amyloidosis with Polyneuropathy: Current Status and Future Perspectives.Neurology and therapy · 2026Review
- Overcoming barriers to early diagnosis and treatment of p.Val142Ile amyloid transthyretin (ATTR) cardiomyopathy.Heart failure reviews · 2026Review
- Article
- Clinical Practice and Diagnostic Trends in Hereditary Transthyretin Amyloidosis: A 25-Year Observational Study.Medicina (Kaunas, Lithuania) · 2026Observational
- UniqueAnnals of laboratory medicine · 2026Article
- Cardiac phenotype in hereditary transthyretin amyloidosis: correlations between fibril types and 99mTc-DPD uptake.Scientific reports · 2026Article
- Autonomic dysfunction in patients with wild-type transthyretin amyloidosis.Journal of neurology · 2026Article
- Systemic Manifestations and Mortality Risk in Transthyretin V142I Variant Carriers: A Million Veteran Program Analysis.JACC. CardioOncology · 2026Article
- Prevalence and incidence of amyloid transthyretin amyloidosis in the USA: insights from claims databases and electronic health records.Open heart · 2025Article
- Peripheral Nerve Ultrasound Findings in Hereditary Transthyretin Amyloidosis in Brazil.Diagnostics (Basel, Switzerland) · 2025Article
- Comparative Study on Cardiac Findings in Patients with Transthyretin Amyloidosis Before and After Treatment with a Transthyretin Silencer.Journal of cardiovascular development and disease · 2025Article
- Genetic and clinical features of hereditary transthyretin amyloidosis: a decade of experience at a Japanese referral center.Orphanet journal of rare diseases · 2025Article
- Prostatic amyloidosis: pathological features of an underdiagnosed condition.Virchows Archiv : an international journal of pathology · 2025Article
- Small intestinal bacterial overgrowth in variant transthyretin amyloidosis (A-ATTRv).Orphanet journal of rare diseases · 2025Observational
- TTR Gene Screening Since the Advent of Biotherapies in France: A Nationwide Retrospective Survey Between 2018 and 2023.European journal of neurology · 2025Article
- Hereditary Transthyretin Amyloidosis in Israel: Genetic Landscape and Clinical Characteristics.European journal of neurology · 2025Article
- Management of Hereditary Transthyretin Amyloidosis (ATTRv) Patients and Asymptomatic Carriers in Spain: The EMPATIa Study.Journal of clinical medicine · 2024Article
- Hereditary Transthyretin Amyloidosis in Patients Referred to a Genetic Testing Program.Journal of the American Heart Association · 2024Article
- Transthyretin cardiac amyloid: Broad heart failure phenotypic spectrum and implications for diagnosis.ESC heart failure · 2024Article
- A Snapshot of the Most Recent Transthyretin Stabilizers.International journal of molecular sciences · 2024Review
Corrections and comments
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Authors and funding
14 authors at 20 institutions in 21 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundTransthyretin amyloidosis (ATTR amyloidosis) is a rare, life-threatening disease caused by the accumulation of variant or wild-type (ATTRwt amyloidosis) transthyretin amyloid fibrils in the heart, peripheral nerves, and other tissues and organs.
methodsEstablished in 2007, the Transthyretin Amyloidosis Outcomes Survey (THAOS) is the largest ongoing, global, longitudinal observational study of patients with ATTR amyloidosis, including both inherited and wild-type disease, and asymptomatic carriers of pathogenic TTR mutations. This descriptive analysis examines baseline characteristics of symptomatic patients and asymptomatic gene carriers enrolled in THAOS since its inception in 2007 (data cutoff: August 1, 2021).
resultsThis analysis included 3779 symptomatic patients and 1830 asymptomatic gene carriers. Symptomatic patients were predominantly male (71.4%) and had a mean (standard deviation [SD]) age of symptom onset of 56.3 (17.8) years. Val30Met was the most common genotype in symptomatic patients in South America (80.9%), Europe (55.4%), and Asia (50.5%), and more patients had early- versus late-onset disease in these regions. The majority of symptomatic patients in North America (58.8%) had ATTRwt amyloidosis. The overall distribution of phenotypes in symptomatic patients was predominantly cardiac (40.7%), predominantly neurologic (40.1%), mixed (16.6%), and no phenotype (2.5%). In asymptomatic gene carriers, mean (SD) age at enrollment was 42.4 (15.7) years, 42.4% were male, and 73.2% carried the Val30Met mutation.
conclusionsThis 14-year global overview of THAOS in over 5000 patients represents the largest analysis of ATTR amyloidosis to date and highlights the genotypic and phenotypic heterogeneity of the disease. CLINICALTRIALS: gov Identifier: NCT00628745.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.