{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,14]],"date-time":"2026-04-14T19:16:48Z","timestamp":1776194208709,"version":"3.50.1"},"reference-count":10,"publisher":"Georg Thieme Verlag KG","issue":"04","license":[{"start":{"date-parts":[[2024,4,5]],"date-time":"2024-04-05T00:00:00Z","timestamp":1712275200000},"content-version":"vor","delay-in-days":4,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq Neuropsiquiatr"],"published-print":{"date-parts":[[2024,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>\n          Background\u2003Hereditary transthyretin amyloidosis (ATTRv) is an inherited, progressive, and fatal disease still largely underdiagnosed. Mutations in the transthyretin (TTR) gene cause the TTR protein to destabilize, misfold, aggregate, and deposit in body tissues, which makes ATTRv a disease with heterogeneous clinical phenotype.<\/jats:p><jats:p>\n          Objective\u2003To describe the long-term efficacy and safety of inotersen therapy in patients with ATTRv peripheral neuropathy (ATTRv-PN).<\/jats:p><jats:p>\n          Methods\u2003Patients who completed the NEURO-TTR pivotal study and the NEURO-TTR OLE open-label extension study migrated to the present study and were followed-up for at least 18 more months to an average of 67 months and up to 76 months since day 1 of the inotersen therapy (D1\u2013first dose of inotersen). Disease progression was evaluated by standard measures.<\/jats:p><jats:p>\n          Results\u2003Ten ATTRv-PN patients with Val30Met mutation were included. The mean disease duration on D1 was of 3 years, and the mean age of the patients was of 46.8 years. During an additional 18-month follow up, neurological function, based on the Neuropathy Impairment Score and the Polyneuropathy Disability Score, functionality aspects (Karnofsky Performance Status), and nutritional and cardiac aspects were maintained. No new safety signs have been noted.<\/jats:p><jats:p>\n          Conclusion\u2003The treatment with inotersen was effective and well tolerated for the average of 67 months and up to 76 months. Our results are consistent with those of larger phase-III trials.<\/jats:p>","DOI":"10.1055\/s-0044-1781463","type":"journal-article","created":{"date-parts":[[2024,4,5]],"date-time":"2024-04-05T22:51:54Z","timestamp":1712357514000},"page":"001-007","source":"Crossref","is-referenced-by-count":2,"title":["Real-life experience with inotersen at CEPARM, Hospital Universit\u00e1rio Clementino Fraga Filho, Universidade Federal do Rio de Janeiro"],"prefix":"10.1055","volume":"82","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, Servi\u00e7o de Nefrologia, Rio de Janeiro RJ, Brazil."},{"name":"Universidade Federal do Rio de Janeiro, Hospital Universit\u00e1rio Clementino Fraga Filho, Centro de Estudos em Paramiloidose Ant\u00f4nio Rodrigues de Mello (CEPARM), Rio de Janeiro RJ, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"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 (CEPARM), Rio de Janeiro RJ, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9890-6657","authenticated-orcid":false,"given":"Marcus Vin\u00edcius","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 (CEPARM), Rio de Janeiro RJ, Brazil."},{"name":"Mayo Clinic, Department of Neurology, Rochester MN, United States."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7739-6742","authenticated-orcid":false,"given":"Renata","family":"Gervais","sequence":"additional","affiliation":[{"name":"Universidade Federal do Rio de Janeiro, Hospital Universit\u00e1rio Clementino Fraga Filho, Servi\u00e7o de Nefrologia, Rio de Janeiro RJ, Brazil."},{"name":"Universidade Federal do Rio de Janeiro, Hospital Universit\u00e1rio Clementino Fraga Filho, Centro de Estudos em Paramiloidose Ant\u00f4nio Rodrigues de Mello (CEPARM), Rio de Janeiro RJ, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"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 (CEPARM), Rio de Janeiro RJ, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"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 (CEPARM), Rio de Janeiro RJ, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"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 (CEPARM), Rio de Janeiro RJ, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4565-7404","authenticated-orcid":false,"given":"Carlos Perez","family":"Gomes","sequence":"additional","affiliation":[{"name":"Universidade Federal do Rio de Janeiro, Hospital Universit\u00e1rio Clementino Fraga Filho, Servi\u00e7o de Nefrologia, Rio de Janeiro RJ, Brazil."},{"name":"Universidade Federal do Rio de Janeiro, Hospital Universit\u00e1rio Clementino Fraga Filho, Centro de Estudos em Paramiloidose Ant\u00f4nio Rodrigues de Mello (CEPARM), Rio de Janeiro RJ, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3270-1595","authenticated-orcid":false,"given":"Roberto Coury","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 (CEPARM), Rio de Janeiro RJ, Brazil."},{"name":"Universidade Federal do Rio de Janeiro, Hospital Universit\u00e1rio Clementino Fraga Filho, Instituto de Cardiologia Edson Saad, Rio de Janeiro RJ, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4853-2236","authenticated-orcid":false,"given":"M\u00e1rcia","family":"Waddington-Cruz","sequence":"additional","affiliation":[{"name":"Universidade Federal do Rio de Janeiro, Hospital Universit\u00e1rio Clementino Fraga Filho, Programa de P\u00f3s-gradua\u00e7\u00e3o\/Centro de Estudos em Paramiloidose Ant\u00f4nio Rodrigues de Mello (CEPARM), Rio de Janeiro RJ, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2024,4,5]]},"reference":[{"issue":"09","key":"ref1","doi-asserted-by":"crossref","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":"S 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open-label extension of the NEURO-TTR trial","volume":"27","author":"T H Brannagan","year":"2020","journal-title":"Eur J Neurol"},{"issue":"12","key":"ref10","doi-asserted-by":"crossref","first-page":"6416","DOI":"10.1007\/s00415-022-11276-8","article-title":"Long-term efficacy and safety of inotersen for hereditary transthyretin amyloidosis: NEURO-TTR open-label extension 3-year update","volume":"269","author":"T H Brannagan","year":"2022","journal-title":"J Neurol"},{"issue":"07","key":"ref11","doi-asserted-by":"crossref","first-page":"2148","DOI":"10.1111\/ene.15325","article-title":"Real-life experience with inotersen in hereditary transthyretin amyloidosis with late-onset phenotype: Data from an early-access program in Italy","volume":"29","author":"M Luigetti","year":"2022","journal-title":"Eur J Neurol"}],"container-title":["Arquivos de 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