{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,16]],"date-time":"2026-07-16T05:22:58Z","timestamp":1784179378447,"version":"3.55.0"},"reference-count":18,"publisher":"Georg Thieme Verlag KG","issue":"01","license":[{"start":{"date-parts":[[2025,1,15]],"date-time":"2025-01-15T00:00:00Z","timestamp":1736899200000},"content-version":"vor","delay-in-days":14,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq Neuropsiquiatr"],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>\n          Background\u2003Tafamidis is a kinetic stabilizer that binds to the transthyretin (TTR) gene, inhibiting its dissociation. It is the only disease-modifying treatment for hereditary TTR amyloidosis with peripheral neuropathy (ATTRv-PN) available in the National Therapeutic Form (Formul\u00e1rio Terap\u00eautico Nacional, FTN, in Portuguese) of the Brazilian Unified Health System (Sistema \u00danico de Sa\u00fade, SUS, in Portuguese).<\/jats:p><jats:p>\n          Objective\u2003To assess if the efficacy and safety of tafamidis in the Brazilian real-world experience are comparable to the results of clinical trials.<\/jats:p><jats:p>\n          Methods\u2003We retrospectively studied all patients with ATTRv-PN evaluated at our center from September 2011 to March 2022 (data cut-off) who were initiated on tafamidis and had at least 1 follow up visit 6 months after the initiation of the drug treatment. Neurologic and functional outcomes were compared from day 1 (D1) of the tafamidis treatment (baseline) to the last follow-up.<\/jats:p><jats:p>\n          Results\u2003In total, 33 patients were included, 18 (55%) of whom were female. All patients were carriers of the V30M mutation of ATTRv-PN, and 20 (61%) presented early onset (EO) ATTRv-PN. At baseline, the median age of the sample was of 40 (interquartile range [IQR]: 36\u201368) years, the median Neuropathy Impairment Score (NIS) was of 10 (6\u201324) points, and the median body mass index (BMI) was of 26 (23\u201328) kg\/m2. The mean follow-up time was of 3.4 years. At the last follow-up, the BMI, the neurological impairment, and the level of disability slightly worsened compared with baseline, while the findings of the nerve conduction studies remained stable. These same results were observed across EO and late-onset (LO) ATTRv-PN patients. A total of 25 (75.8%) patients were considered responders, and 8 (24.2%), non-responders.<\/jats:p><jats:p>\n          Conclusion\u2003The efficacy and safety of tafamidis reported in clinical trials is expandable to the Brazilian real-world scenario in EO and late-onset (LO) ATTRv-PN.<\/jats:p>","DOI":"10.1055\/s-0044-1793936","type":"journal-article","created":{"date-parts":[[2025,1,15]],"date-time":"2025-01-15T23:30:21Z","timestamp":1736983821000},"page":"001-006","source":"Crossref","is-referenced-by-count":1,"title":["Real-world tafamidis experience in hereditary transthyretin amyloidosis with peripheral neuropathy in Brazil"],"prefix":"10.1055","volume":"83","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-1207-1459","authenticated-orcid":false,"given":"Luiz Felipe","family":"Pinto","sequence":"additional","affiliation":[{"name":"Universidade Federal do Rio de Janeiro, Hospital Universit\u00e1rio Clementino Fraga Filho, Centro de Estudos em Paramiloidose Ant\u00f4nio Rodrigues de Mello, Rio de Janeiro RJ, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9890-6657","authenticated-orcid":false,"given":"Marcus V.","family":"Pinto","sequence":"additional","affiliation":[{"name":"Universidade Federal do Rio de Janeiro, Hospital Universit\u00e1rio Clementino Fraga Filho, Centro de Estudos em Paramiloidose Ant\u00f4nio Rodrigues de Mello, Rio de Janeiro RJ, Brazil."},{"name":"Mayo Clinic, Department of Neurology, Rochester MN, United States."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-3341-7790","authenticated-orcid":false,"given":"Paula","family":"Accioli","sequence":"additional","affiliation":[{"name":"Universidade Federal do Rio de Janeiro, Hospital Universit\u00e1rio Clementino Fraga Filho, Centro de Estudos em Paramiloidose Ant\u00f4nio Rodrigues de Mello, Rio de Janeiro RJ, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-6804-7687","authenticated-orcid":false,"given":"Gabriela","family":"Amorim","sequence":"additional","affiliation":[{"name":"Universidade Federal do Rio de Janeiro, Hospital Universit\u00e1rio Clementino Fraga Filho, Centro de Estudos em Paramiloidose Ant\u00f4nio Rodrigues de Mello, Rio de Janeiro RJ, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7739-6742","authenticated-orcid":false,"given":"Renata Gervais de Santa","family":"Rosa","sequence":"additional","affiliation":[{"name":"Universidade Federal do Rio de Janeiro, Hospital Universit\u00e1rio Clementino Fraga Filho, Centro de Estudos em Paramiloidose Ant\u00f4nio Rodrigues de Mello, Rio de Janeiro RJ, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-9540-7838","authenticated-orcid":false,"given":"Moises","family":"Dias","sequence":"additional","affiliation":[{"name":"Universidade Federal do Rio de Janeiro, Hospital Universit\u00e1rio Clementino Fraga Filho, Centro de Estudos em Paramiloidose Ant\u00f4nio Rodrigues de Mello, Rio de Janeiro RJ, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2730-3864","authenticated-orcid":false,"given":"Mariana","family":"Guedes","sequence":"additional","affiliation":[{"name":"Universidade Federal do Rio de Janeiro, Hospital Universit\u00e1rio Clementino Fraga Filho, Centro de Estudos em Paramiloidose Ant\u00f4nio Rodrigues de Mello, Rio de Janeiro RJ, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4565-7404","authenticated-orcid":false,"given":"Carlos P.","family":"Gomez","sequence":"additional","affiliation":[{"name":"Universidade Federal do Rio de Janeiro, Hospital Universit\u00e1rio Clementino Fraga Filho, Centro de Estudos em Paramiloidose Ant\u00f4nio Rodrigues de Mello, Rio de Janeiro RJ, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3270-1595","authenticated-orcid":false,"given":"Roberto C.","family":"Pedrosa","sequence":"additional","affiliation":[{"name":"Universidade Federal do Rio de Janeiro, Hospital Universit\u00e1rio Clementino Fraga Filho, Centro de Estudos em Paramiloidose Ant\u00f4nio Rodrigues de Mello, Rio de Janeiro RJ, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4853-2236","authenticated-orcid":false,"given":"Marcia","family":"Waddington-Cruz","sequence":"additional","affiliation":[{"name":"Universidade Federal do Rio de Janeiro, Hospital Universit\u00e1rio Clementino Fraga Filho, Centro de Estudos em Paramiloidose Ant\u00f4nio Rodrigues de Mello, Rio de Janeiro RJ, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"194","published-online":{"date-parts":[[2025,1,15]]},"reference":[{"issue":"07","key":"ref1","doi-asserted-by":"publisher","first-page":"387","DOI":"10.1038\/s41582-019-0210-4","article-title":"Hereditary transthyretin amyloidosis: a model of medical progress for a fatal disease","volume":"15","author":"D Adams","year":"2019","journal-title":"Nat Rev Neurol"},{"issue":"09","key":"ref2","doi-asserted-by":"publisher","first-page":"609","DOI":"10.1590\/0004-282X20180094","article-title":"Brazilian consensus for diagnosis, management and treatment of transthyretin familial amyloid polyneuropathy","volume":"76","author":"M V Pinto","year":"2018","journal-title":"Arq Neuropsiquiatr"},{"issue":"07","key":"ref3","doi-asserted-by":"publisher","first-page":"733","DOI":"10.1038\/gim.2016.200","article-title":"Transthyretin V122I (pV142I)* cardiac 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