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A 15-year consolidated overview of data in over 6000 patients from the Transthyretin Amyloidosis Outcomes Survey (THAOS)

Identificadores del recurso

Gentile L, Coelho T, Dispenzieri A, Conceição I, Waddington-Cruz M, Kristen A, et al. A 15-year consolidated overview of data in over 6000 patients from the Transthyretin Amyloidosis Outcomes Survey (THAOS). Orphanet J Rare Dis. 2023 Nov 10;18(1):350.

http://hdl.handle.net/20.500.13003/20011

10.1186/s13023-023-02962-5

1750-1172

37946256

L2026523791

2-s2.0-85176133271

001103145600001

Jatorria

(Docusalut. Repositorio institucional del sistema sanitario público de las Islas Baleares)

Fitxa

Izenburu:: A 15-year consolidated overview of data in over 6000 patients from the Transthyretin Amyloidosis Outcomes Survey (THAOS)
Tema:: Male; Prealbumin; Adult; Female; Humans; Registries; Middle Aged; Amyloid Neuropathies, Familial; Surveys and Questionnaires; Longitudinal Studies; Neuropatías Amiloides Familiares; Estudios Longitudinales; Prealbúmina; Humanos; Persona de Mediana Edad; Femenino; Encuestas y Cuestionarios; Adulto; Masculino; Sistema de Registros
Deskribapen:: Transthyretin amyloidosis (ATTR amyloidosis) is a progressive, multisystemic, life-threatening disease resulting from the deposition of variant or wild-type (ATTRwt amyloidosis) transthyretin amyloid fibrils in various tissues and organs. Established in 2007, the Transthyretin Amyloidosis Outcomes Survey (THAOS) is the largest ongoing, global, longitudinal, observational study of patients with ATTR amyloidosis, including both hereditary and wild-type disease, and asymptomatic carriers of pathogenic TTR mutations. This analysis describes the baseline characteristics of symptomatic patients and asymptomatic gene carriers enrolled in THAOS since its inception in 2007 (data cutoff: August 1, 2022), providing a consolidated overview of 15-year data from the THAOS registry. This analysis included 4428 symptomatic patients and 1707 asymptomatic gene carriers. The majority of symptomatic patients were male (70.8%) with a mean (standard deviation [SD]) age at symptom onset of 56.6 (17.9) years. Compared with the 14-year analysis, V30M remained the most prevalent genotype in Europe (62.2%), South America (78.6%), and Japan (74.2%) and ATTRwt remained most common in North America (56.2%). Relative to the 14-year analysis, there was an increase of mixed phenotype (from 16.6 to 24.5%) and a reduction of predominantly cardiac phenotype (from 40.7 to 31.9%). The proportion of patients with predominantly neurologic phenotype remained stable (from 40.1 to 38.7%). Asymptomatic gene carriers were 58.5% female with a mean age at enrollment of 41.9 years (SD 15.5). This overview of > 6000 patients enrolled over 15 years in THAOS represents the largest registry analysis of ATTR amyloidosis to date and continues to emphasize the genotypic and phenotypic heterogeneity of the disease. Nearly a quarter of the symptomatic population within THAOS was mixed phenotype, underscoring the need for multidisciplinary management of ATTR amyloidosis. ClinicalTrials.gov Identifier: NCT00628745.; The THAOS registry and this analysis were sponsored by Pfizer. Pfizer contributed to the study design and management and collection of data. In their role as authors, employees of Pfizer were involved in the interpretation of data, preparation, review, and approval of the manuscript and the decision to submit for publication, along with their co-authors. The study sponsors approved the manuscript from an intellectual property perspective but had no right to veto the publication.
Idioma:: English
Harreman:: https://doi.org/10.1186/s13023-023-02962-5
Autor/Productor:: Gentile, Luca; Coelho, Teresa; Dispenzieri, Angela; Conceição, Isabel; Waddington-Cruz, Márcia; Kristen, Arnt; Wixner, Jonas; Diemberger, Igor; González-Moreno, Juan; Cariou, Eve; Maurer, Mathew S; Planté-Bordeneuve, Violaine; Garcia-Pavia, Pablo; Tournev, Ivailo; Gonzalez-Costello, Jose; Duarte, Alejandra Gonzalez; Grogan, Martha; Mazzeo, Anna; Chapman, Doug; Gupta, Pritam; Glass, Oliver; Amass, Leslie
Argitaratzaile:: BMC
Eskubideak:: Atribución 4.0 Internacional; http://creativecommons.org/licenses/by/4.0/; open access
Data:: 2023-11-28T10:57:07Z; 2023-11-10
Tipo de recurso:: research article

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24. <dc:subject>Male</dc:subject>
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26. <dc:subject>Adult</dc:subject>
27. <dc:subject>Female</dc:subject>
28. <dc:subject>Humans</dc:subject>
29. <dc:subject>Registries</dc:subject>
30. <dc:subject>Middle Aged</dc:subject>
31. <dc:subject>Amyloid Neuropathies, Familial</dc:subject>
32. <dc:subject>Surveys and Questionnaires</dc:subject>
33. <dc:subject>Longitudinal Studies</dc:subject>
34. <dc:subject>Neuropatías Amiloides Familiares</dc:subject>
35. <dc:subject>Estudios Longitudinales</dc:subject>
36. <dc:subject>Prealbúmina</dc:subject>
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38. <dc:subject>Persona de Mediana Edad</dc:subject>
39. <dc:subject>Femenino</dc:subject>
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41. <dc:subject>Adulto</dc:subject>
42. <dc:subject>Masculino</dc:subject>
43. <dc:subject>Sistema de Registros</dc:subject>
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45. <dc:description>The THAOS registry and this analysis were sponsored by Pfizer. Pfizer contributed to the study design and management and collection of data. In their role as authors, employees of Pfizer were involved in the interpretation of data, preparation, review, and approval of the manuscript and the decision to submit for publication, along with their co-authors. The study sponsors approved the manuscript from an intellectual property perspective but had no right to veto the publication.</dc:description>
46. <dc:date>2023-11-28T10:57:07Z</dc:date>
47. <dc:date>2023-11-28T10:57:07Z</dc:date>
48. <dc:date>2023-11-10</dc:date>
49. <dc:type>research article</dc:type>
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