Patisiran in hATTR Amyloidosis: Six-Month Latency Period before Efficacy
Hereditary amyloidosis associated with mutations in the transthyretin gene (hATTR) is a progressive devastating disease, with a fatal outcome occurring within 10years after onset. In recent years, TTR gene silencing therapy appeared as a promising therapeutic strategy, showing evidence that disease...
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MDPI AG
2021-04-01
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| author | Luca Gentile Massimo Russo Marco Luigetti Giulia Bisogni Andrea Di Paolantonio Angela Romano Valeria Guglielmino Ilenia Arimatea Mario Sabatelli Antonio Toscano Giuseppe Vita Anna Mazzeo |
| author_facet | Luca Gentile Massimo Russo Marco Luigetti Giulia Bisogni Andrea Di Paolantonio Angela Romano Valeria Guglielmino Ilenia Arimatea Mario Sabatelli Antonio Toscano Giuseppe Vita Anna Mazzeo |
| author_sort | Luca Gentile |
| collection | DOAJ |
| description | Hereditary amyloidosis associated with mutations in the transthyretin gene (hATTR) is a progressive devastating disease, with a fatal outcome occurring within 10years after onset. In recent years, TTR gene silencing therapy appeared as a promising therapeutic strategy, showing evidence that disease progression can be slowed and perhaps reversed. We report here 18 subjects affected by hATTR amyloidosis treated with patisiran, a small interfering RNA acting as TTR silencer, and evaluated with a PND score, the NIS and NIS-LL scale, and a Norfolk QOL-DN questionnaire at baseline and then every 6 months. A global clinical stabilizationwas observed for the majority of the patients, with mild-moderate improvements in some cases, even in advanced disease stage (PND score > 2). Analysis of NIS, NIS-LL and Norfolk QOL-DN results, and PND score variation suggest the possible presence of a 6-month latency period prior to benefit of treatment. |
| first_indexed | 2024-03-10T12:12:33Z |
| format | Article |
| id | doaj.art-67501ac7986a41c0a8a6c4a97de19b73 |
| institution | Directory Open Access Journal |
| issn | 2076-3425 |
| language | English |
| last_indexed | 2024-03-10T12:12:33Z |
| publishDate | 2021-04-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Brain Sciences |
| spelling | doaj.art-67501ac7986a41c0a8a6c4a97de19b732023-11-21T16:07:20ZengMDPI AGBrain Sciences2076-34252021-04-0111451510.3390/brainsci11040515Patisiran in hATTR Amyloidosis: Six-Month Latency Period before EfficacyLuca Gentile0Massimo Russo1Marco Luigetti2Giulia Bisogni3Andrea Di Paolantonio4Angela Romano5Valeria Guglielmino6Ilenia Arimatea7Mario Sabatelli8Antonio Toscano9Giuseppe Vita10Anna Mazzeo11Unit of Neurology and Neuromuscular Diseases, Department of Clinical and Experimental Medicine, University of Messina, 98125 Messina, ItalyUnit of Neurology and Neuromuscular Diseases, Department of Clinical and Experimental Medicine, University of Messina, 98125 Messina, ItalyUOC Neurologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Roma, ItalyCentro Clinico NEMO, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Roma, ItalyUOC Neurologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Roma, ItalyUOC Neurologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Roma, ItalyUOC Neurologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Roma, ItalyUnit of Neurology and Neuromuscular Diseases, Department of Clinical and Experimental Medicine, University of Messina, 98125 Messina, ItalyUOC Neurologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Roma, ItalyUnit of Neurology and Neuromuscular Diseases, Department of Clinical and Experimental Medicine, University of Messina, 98125 Messina, ItalyUnit of Neurology and Neuromuscular Diseases, Department of Clinical and Experimental Medicine, University of Messina, 98125 Messina, ItalyUnit of Neurology and Neuromuscular Diseases, Department of Clinical and Experimental Medicine, University of Messina, 98125 Messina, ItalyHereditary amyloidosis associated with mutations in the transthyretin gene (hATTR) is a progressive devastating disease, with a fatal outcome occurring within 10years after onset. In recent years, TTR gene silencing therapy appeared as a promising therapeutic strategy, showing evidence that disease progression can be slowed and perhaps reversed. We report here 18 subjects affected by hATTR amyloidosis treated with patisiran, a small interfering RNA acting as TTR silencer, and evaluated with a PND score, the NIS and NIS-LL scale, and a Norfolk QOL-DN questionnaire at baseline and then every 6 months. A global clinical stabilizationwas observed for the majority of the patients, with mild-moderate improvements in some cases, even in advanced disease stage (PND score > 2). Analysis of NIS, NIS-LL and Norfolk QOL-DN results, and PND score variation suggest the possible presence of a 6-month latency period prior to benefit of treatment.https://www.mdpi.com/2076-3425/11/4/515hATTRamyloidosisTTR silencersgene therapy |
| spellingShingle | Luca Gentile Massimo Russo Marco Luigetti Giulia Bisogni Andrea Di Paolantonio Angela Romano Valeria Guglielmino Ilenia Arimatea Mario Sabatelli Antonio Toscano Giuseppe Vita Anna Mazzeo Patisiran in hATTR Amyloidosis: Six-Month Latency Period before Efficacy Brain Sciences hATTR amyloidosis TTR silencers gene therapy |
| title | Patisiran in hATTR Amyloidosis: Six-Month Latency Period before Efficacy |
| title_full | Patisiran in hATTR Amyloidosis: Six-Month Latency Period before Efficacy |
| title_fullStr | Patisiran in hATTR Amyloidosis: Six-Month Latency Period before Efficacy |
| title_full_unstemmed | Patisiran in hATTR Amyloidosis: Six-Month Latency Period before Efficacy |
| title_short | Patisiran in hATTR Amyloidosis: Six-Month Latency Period before Efficacy |
| title_sort | patisiran in hattr amyloidosis six month latency period before efficacy |
| topic | hATTR amyloidosis TTR silencers gene therapy |
| url | https://www.mdpi.com/2076-3425/11/4/515 |
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