Citations 2
Attitudes in Patients With Prodromal and Overt α ‐Synucleinopathy Toward Risk Disclosure: A Nationwide Registry
Yılmaz, Rezzak , YILMAZ, Gülce Coşku , Karadağ, Yeşim Sücüllü, Hoş, Ülkü Dübüş, Kabeloğlu, Vasfiye , Sonkaya, Riza, Genç, Gençer, Yılmaz, Hikmet, Erer, Sevda , Gültekin, Murat , Tokçaer, Ayşe Bora, Ataoğlu, Esra Erkoç, Samancı, Bedia , Gençler, Onur Serdar , Tunçel, Rasim , Pak, Tina, Demirelli, Derya Selçuk , İbiş, Selen Yılmaz, Çöklü, Hilal, Unkun, Rümeysa , Güllü, Gizem , Ciftci, Omer Faruk , Metin, Kübra Mehel , Demiryürek, Bekir Enes , Doğu, Okan , Özer, Feriha , Aksu, Murat , Berktaş, Deniz Tuncel, Karadeniz, Derya, Çokal, Burcu Gökçe , Demir, Aylin Bican, Gençdal, Işıl Yazıcı , Sarıtaş, Ayşegül Şeyma , Ak, Aysin Kısabay, Sahin, Aysenur , Aslan-Kara, Kezban, İsmailoğulları, Sevda , Tezer, F. Irsel, Hanağası, Haşmet, Akbostancı, Muhittin Cenk , Senel, G Benbir, Çakan, Gülce Coşku Yılmaz , Gultekin, Murat , Samanci, Bedia , Altun, Rümeysa Unkun , Güllü, Gizem , Çakmaklı, Gül Yalçın , Şahin, Ayşenur , Akbostancı, M Cenk , St Louis, Erik K, Karadağ, Yeşim Sücüllü , Hoş, Ülkü Dübüş , Acarer, Ahmet , Sonkaya, Ali Rıza , Genç, Gençer , Gündüz, Ayşegül , Koçer, Bilge , Yılmaz, Hikmet , Tokçaer, Ayşe Bora , Şahin, Erdi , Baydemir, Recep , Bılgıç, Başar , Akyıldız, Utku Oğan , Karadeniz, Derya , Demir, Aylin Bican , Aslan, Kezban , Tezer, F. İrsel, Hanağası, Haşmet , Louis, Erik K. St.
Movement Disorders Clinical Practice | July 23, 2026 | Volume: No volume available | Issue: No issue available | Pages: No page available
Abstract Background Identification of individuals at increased risk for synucleinopathies is becoming more feasible with advances in biomarkers. However, the ethical and practical aspects of communicating disease risk remain unresolved, particularly across diagnostic groups and cultural contexts. Objectives We aimed to evaluate attitudes toward disclosure of future synucleinopathy risk among individuals with isolated/idiopathic REM sleep behavior disorder (iRBD), as well as in individuals who developed Parkinson's disease (PD), or multiple system atrophy (MSA), in a large non‐Western registry. Methods This nationwide survey study included participants from 28 movement disorders and sleep centers across Türkiye. Questionnaires assessing attitudes toward risk disclosure, additional testing, and clinical trial participation were administered face‐to‐face. Responses were analyzed using contingency tables and regression models. Results are reported following the Consensus‐Based Checklist for Reporting of Survey Studies (CROSS) guideline. Results Among 1385 participants (1039 PD, 107 MSA, 239 iRBD), individuals with iRBD showed the highest support for risk disclosure (88.3%), exceeding PD (64.4%) and MSA (51.9%). Approval declined modestly (3–8%) when framed within the absence of disease‐modifying treatment. iRBD participants were more willing for additional testing but less willing to join clinical trials (31.8%) than PD (45.3%) or MSA (48%). MSA patients expressed the greatest concern about psychological impact. Male sex had more favorable views on disclosure and trial participation, while younger and better‐educated participants favored additional testing. Conclusions Attitudes toward risk disclosure differ markedly across the synucleinopathy spectrum and demographic characteristics. Culturally informed and diagnosis‐specific disclosure strategies will be essential for trial recruitment and patient‐centered care.
Five-Year Results With Patisiran for Hereditary Transthyretin Amyloidosis With Polyneuropathy
Wixner, Jonas , Polydefkis, Michael , Ueda, Mitsuharu , Bender, Shaun, Jay, Patrick Y. , Yureneva, Elena, group, patisiran Global OLE study, Vita, Giuseppe, Rizzo, Vincenzo , Wiesman, Janice F. , Lau, Vincent , DeLong, Douglas, May, John J., Delmont, Émilien , Pouget, Jean, Grapperon, Aude‐Marie , Campana-Salort, Emmanuelle, Coutinho, Conceição de Azevedo, Campos, Catarina Falcão de , Coelho, Teresa , Reis, Antonio Hipólito, Pérez, Javier Martínez , Silva, Ana Martins da, Alves, Cristina , Cardoso, Márcio , Valdrez, Kátia, Monte, Julia R, Novais, Marta , Guimarães, Nádia, Cardoso, Inês , Freitas, Mónica, Ferreira, Natália , Kuzume, Daisuke , Morimoto, Yuko, Gauvain, Clément , Migaud-Chervy, Maria-Claire, Deplanque, Dominique , Jozefowicz, Elsa, Théaudin-Saliou, Marie, Cauquil-Michon, Cécile, Labeyrie, Céline , Not, Adeline , Lecoq, Anne-Lise , Stephant, Maeva, Echaniz‐Laguna, Andoni , Becquemont, Laurent , Beaudonnet, Guillemette , Eliahou, Ludivine , Slama, Michel , Signaté, Aïssatou , Darche, Paola, Grimaud, Jérôme, Berthelot, Emeline, Inamo, Jocelyn , Gendre, Thierry , Arrouasse, Raphaele , Ernande, Laura , Salhi, Hayet, Choumert, Ariane , Charlin, Cyril, Megelin, Thomas, Brannagan, Thomas H., Tsang, Steven, Wajnsztajn, Fernanda, Shije, Jeffrey, Ulane, Christina, Kleyman, Inna , Weimer, Louis H., Cioroiu, Comana , Kleopa, Kleopas A. , Zamba‐Papanicolaou, Eleni , Tada, Satoshi , Nagai, Masahiro , Ando, Rina, Yamanishi, Yuki , Overcash, J. Scott , Green, Sinikka, Coskun, Derya J, Manos, Paul S. , Zepeda, Karla A, O’Riordan, William, Cortese, Andrea , Bernardo, Daniela, Paolantonio, Andrea Di , Guglielmino, Valeria , Kristen, Arnt V. , Nagel, Christian , Siepen, Fabian aus dem , Hein, Selina , Campistol, Josep M. , Marín, Lida María Rodas, Pelicano, Josep Miquel Blasco, Dávila, Lucía Galán, Cordoba, Vanesa Pytel, Sola, A. Guerrero, Feijoo, Julián García, Isla, Leopoldo Pérez de , Moreira, Carolina Lavigne , Marques, Vanessa Daccach , Beamud, Francisco Muñoz, Borrachero, Cristina, Sanz, Mónica, Oliver, E, Moreno, Juan González, Martinez, J. Michael, Descals, Cristina, Usón, Mercedes, Vega, Francisco Jose, Figuerola, Antoni, Montalà, Carles, Abreu, Aline França de , Silva, Moises Dias da, Rosa, Renata Gervais de Santa, Berensztejn, Amanda Cardoso, Guedes, Mariana de Andrade, Lautre, Andrea, Orellana, Lucas, Briseño, Maria Alejandra González-Duarte, Parra, David Rivera de la, Reyes, Jose Pablo Hernandez, Alba, Maria del Mar Saniger, Parman, Yeşim , Serbest, Nail Güven , Durmuş, Hacer , Karamürsel, Saçit , Elitok, Ali, Inan, Nermin G Sirin, Altinkurt, Emre, Polydefkis, Michael, Allen, Adriane C, Chaudhry, Vinay , Jarrett, R. J., Bressler, Neil M. , Khoshnoodi, Mohammad , Lui, Alvin T, Chung, Tae , Vista, Geno, Shah, Syed Mahmood , Hamaguchi, Hirotoshi , Oda, Tetsuya , Shimomura, Masahiro, Kim, Hee Jin, Misumi, Yohei , Nomura, Toshiya , Tateishi, Takahisa , Mauricio, Elizabeth A. , Dimberg, Elliot L., Fonder, Amie , Hobbs, Miriam, Dyck, P. James B. , Leung, Nelson , Hwa, Yi L. , Kapoor, Prashant , Kumar, Shaji , Dingli, David , Gove, Linde E., Dalia, Samir , Croy, David, Holding, Tim, Gorevic, Peter D., Su, Jen-Jen , Lin, Chao-Wen, Ajroud‐Driss, Senda , Sufit, Robert , Li, John-Michael, Freimer, Miriam , LoRusso, Samantha, Aso, Yasuhiro , Kim, Byoung‐Joon , Kim, JuHyeon, Jeon, Eun‐Seok , Seok, Jin Myoung , Park, Jae Hong , Sekijima, Yoshiki , Kato, Naga-aki, Hineno, Akiyo , Kodaira, Minori , Yoshinaga, Tsuneaki , Takasone, Ken, Miyahara, Teruyoshi, Takahashi, Yusuke , Matsumoto, Kazuhiko , Lin, Kon-Ping, Lee, Yi‐Chung , Wixner, Jonas, Pilebro, Björn, Nordh, Erik, Chermenina, Maria, Nygren, Anneli, Tournev, Ivaylo, Zhelyazkova, Sashka , Cherneva, Zheyna , Sarafov, S., Cherninkova-Gopina, Sylvia, Vorona, Elena, Huesing-Kabar, Anna, Schilling, Matthias , Kabar, Iyad , Martinez–Naharro, Ana , Chacko, Liza , Cohen, Oliver , Law, Steven , Rezk, Tamer , Quan, Dianna , Dixon, Stacy, Fridman, Vera , Low, Soon-Chai , Mezei, Michelle M. , Jack, Kristin, Wade, N. Kevin, Lopate, Glenn, Geisler, Stephanie , Sommerville, R. Brian, Florence, Julaine, Stewart, Graeme J., Taylor, Mark , Suan, Daniel, Dingli, David , Gillmore, Julian D , Lee, Yi-Chung , Karamursel, Sacit , Adams, David , Berk, John L. , Conceição, Isabel , Dispenzieri, Angela , Peltier, Amanda , Bender, Shaun , Capocelli, Kelley, Obici, Laura , group, patisiran Global OLE study, Vita, Giuseppe, Russo, Massimo , Mazzeo, Anna Teresa , Gentile, Luca, Kaku, Michelle C. , Lau, Vincent, Dalton, James, May, John, Attarian, Shahram , Verschueren, Annie , Campana-Salort, Emmanuelle, Neves, Carlos, Santos, Miguel Oliveira , Coelho, Teresa, Correia, Nuno, Perez, Javier M, Silva, Ana Martins da, Ramalho, Joana, Yamasaki, Masahiro , Morimoto, Yuko, Tard, Céline , Hachulla, É. , Lebellec, Loïc , Théaudin, Marie , Al‐Salameh, Abdallah , Algalarrondo, Vincent , Rousseau, Antoine , Planté‐Bordeneuve, Violaine , Ayache, Samar S. , Corvoisier, Philippe Le , Waters, Michael, Manos, Paul, Lozza, Alessandro , Merlini, Giampaolo , Rosti, Vittorio , Sabatelli, Mario , Bisogni, Giulia , Luigetti, Marco , Romano, Ângela , Nienhuis, Hans L. A. , Neshige, Shuichiro , Horga, Alejandro , Feijoo, Julián García, Marques, Wilson , López, Inés AL, Sanz, Monica, Martinez, Jose M Gamez, Waddington‐Cruz, Márcia , Abreu, Aline Souza de, Silva, Moises Dias da, Pinto, Marcus Vinícius , Pinto, Luiz Felipe , Barroso, Fábio , Briseno, Maria Alejandra Gonzalez Duarte, Cárdenas‐Soto, Karla , Cantú-Brito, Carlos Gerardo , Şahin, Erdi , Çakar, Arman , İNAN, NERMİN GÖRKEM ŞİRİN, Polydefkis, Michael, Jarrett, Raquel, Singh, Mandeep , Judge, Daniel P. , Lui, Alvin T, Vista, Geno, Shimomura, Masahiro, Scheid, Christof , Holtick, Udo , Oh, Jeeyoung , Kim, Hee Jin, Shin, Hyun Jin , Choi, Kyomin , Mauricio, Elizabeth A. , Cooper, Leslie T. , Gonsalves, Wilson I. , Witzig, Thomas E. , Lin, Yi , Rajkumar, S. Vincent , Gertz, Morie A. , Chao, Chi‐Chao , Lee, Ming‐Jen , Hsieh, Sung‐Tsang , Tsai, Li‐Kai , Yeh, Shin‐Joe , Yang, Chih‐Chao , Lee, Ga-Yeon , Cho, Eun Bin , Min, Ju‐Hong , Lee, Hye Lim , Kishida, Dai , Imai, Akira, Lin, Kon‐Ping, Wixner, Jonas, Suhr, Ole B. , Anan, Intissar , Nordh, Erik, Domellöf, Fátima Pedrosa , Chamova, Teodora , Schmidt, Hartmut , Tepasse, Phil‐Robin , Gillmore, Julian D. , Lachmann, Helen J. , Goh, Khean Jin , Geisler, Stephanie, Taylor, Mark, Suan, Dan
JAMA Neurology | January 13, 2025 | Volume: 82 | Issue: 3 | Pages: 228
Importance There is a lack of long-term efficacy and safety data on hereditary transthyretin amyloidosis with polyneuropathy (hATTR-PN) and on RNA interference (RNAi) therapeutics in general. This study presents the longest-term data to date on patisiran for hATTR-PN. Objective To present the long-term efficacy and safety of patisiran in adults with hATTR-PN. Design, Setting, and Participants This global open-label extension (OLE) of the APOLLO randomized clinical trial and phase 2 OLE study enrolled patients from 43 hospitals or clinical centers across 19 countries between July 2015 and August 2017, with follow-up until November 2022. Of 212 eligible patients with hATTR who completed the phase 3 APOLLO or phase 2 OLE parent studies, 211 enrolled in and 138 completed the global OLE. Intervention Patisiran, 0.3 mg/kg, intravenously once every 3 weeks for up to 5 years. Main Outcomes and Measures Outcomes evaluated at year 5 of the global OLE included disability (polyneuropathy disability [PND] score); polyneuropathy severity (Neuropathy Impairment Score [NIS]), nutritional status (modified body mass index [mBMI]), quality of life (Norfolk Quality of Life–Diabetic Neuropathy [Norfolk QOL-DN]), and Rasch-Built Overall Disability Scale (R-ODS), with no statistical hierarchy. Safety, survival probability, and mortality were also assessed. Results At the global OLE baseline, the mean (SD) age was 61.3 (12.3) years, and 156 patients (73.9%) were male. In 138 patients completing the study, PND scores remained stable or improved in 89 patients (65.0%), NISs showed a mean (SD) change of 10.9 (14.7), and mean (SD) mBMI (calculated as weight in kilograms divided by height in meters squared times serum albumin in grams per liter) increased by 46.4 (120.7) over 5 years from baseline. Norfolk QOL-DN and R-ODS scores showed mean (SD) changes of 4.1 (16.7) and –3.7 (6.2), respectively. Adverse events (AEs) leading to study withdrawal occurred in 47 patients (22.3%). Infusion-related reactions were the most common treatment-related AE (n = 34 [16.1%]). Overall, 41 patients (19.4%) died during the study. Patisiran treatment in the parent study and low familial amyloid polyneuropathy score at parent study baseline were associated with significantly improved survival. Conclusions and Relevance In the longest study of an RNAi therapeutic for any disease, patisiran treatment resulted in modest changes for patients with hATTR-PN with an acceptable safety profile. These results highlight the importance of initiating early treatment for hATTR and the potential of RNAi therapeutics in medicine. Trial Registration ClinicalTrials.gov Identifier: NCT02510261