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52. 2-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants

Author

Stimpson, Georgia, Ramsey, Danielle, Wolfe, Amy, Mayhew, Anna, Scoto, Mariacristina, Baranello, Giovanni, Muni Lofra, Robert, Main, Marion, Milev, Evelin, Coratti, Giorgia, Pane, Marika, Sansone, Valeria, D'Amico, Adele, Bertini, Enrico Silvio, Messina, Sonia, Bruno, Claudio, Albamonte, Emilio, Mazzone, Elena Stacy, Montes, Jacqueline, Glanzman, Allan M, Zolkipli-Cunningham, Zarazuela, Pasternak, Amy, Duong, Tina, Dunaway Young, Sally, Civitello, Matthew, Marini-Bettolo, Chiara, Day, John W, Darras, Basil T, De Vivo, Darryl C, Finkel, Richard S, Mercuri, Eugenio Maria, Muntoni, Francesco, Coratti, Giorgia (ORCID:0000-0001-6666-5628), Pane, Marika (ORCID:0000-0002-4851-6124), Bertini, Enrico, Mercuri, Eugenio (ORCID:0000-0002-9851-5365), Stimpson, Georgia, Ramsey, Danielle, Wolfe, Amy, Mayhew, Anna, Scoto, Mariacristina, Baranello, Giovanni, Muni Lofra, Robert, Main, Marion, Milev, Evelin, Coratti, Giorgia, Pane, Marika, Sansone, Valeria, D'Amico, Adele, Bertini, Enrico Silvio, Messina, Sonia, Bruno, Claudio, Albamonte, Emilio, Mazzone, Elena Stacy, Montes, Jacqueline, Glanzman, Allan M, Zolkipli-Cunningham, Zarazuela, Pasternak, Amy, Duong, Tina, Dunaway Young, Sally, Civitello, Matthew, Marini-Bettolo, Chiara, Day, John W, Darras, Basil T, De Vivo, Darryl C, Finkel, Richard S, Mercuri, Eugenio Maria, Muntoni, Francesco, Coratti, Giorgia (ORCID:0000-0001-6666-5628), Pane, Marika (ORCID:0000-0002-4851-6124), Bertini, Enrico, and Mercuri, Eugenio (ORCID:0000-0002-9851-5365)

Abstract

The Revised Hammersmith Scale (RHS) is a 36-item ordinal scale developed using clinical expertise and sound psychometrics to investigate motor function in participants with Spinal Muscular Atrophy (SMA). In this study, we investigate median change in the RHS score up to two years in paediatric SMA 2 and 3 participants and contextualise it to the Hammersmith Functional Motor Scale-Expanded (HFMSE). These change scores were considered by SMA type, motor function, and baseline RHS score. We consider a new transitional group, spanning crawlers, standers, and walkers-with-assistance, and analyse that alongside non-sitters, sitters, and walkers. The transitional group exhibit the most definitive change score trend, with an average 1-year decline of 3 points. In the weakest patients, we are most able to detect positive change in the RHS in the under-5 age group, whereas in the stronger patients, we are most able to detect decline in the RHS in the 8-13 age group. The RHS has a reduced floor effect compared to the HFMSE, although we show that the RHS should be used in conjunction with the RULM for participants scoring less than 20 points on the RHS. The timed items in the RHS have high between-participant variability, so participants with the same RHS total can be differentiated by their timed test items.

Published
2023

54. Developmental milestones in type I spinal muscular atrophy

Author

De Sanctis, Roberto, Coratti, Giorgia, Pasternak, Amy, Montes, Jacqueline, Pane, Marika, Mazzone, Elena S., Young, Sally Dunaway, Salazar, Rachel, Quigley, Janet, Pera, Maria C., Antonaci, Laura, Lapenta, Leonardo, Glanzman, Allan M., Tiziano, Danilo, Muntoni, Francesco, Darras, Basil T., De Vivo, Darryl C., Finkel, Richard, and Mercuri, Eugenio

Published
2016
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56. Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials

Author

Mercuri, Eugenio, Finkel, Richard, Montes, Jacqueline, Mazzone, Elena S., Sormani, Maria Pia, Main, Marion, Ramsey, Danielle, Mayhew, Anna, Glanzman, Allan M., Dunaway, Sally, Salazar, Rachel, Pasternak, Amy, Quigley, Janet, Pane, Marika, Pera, Maria Carmela, Scoto, Mariacristina, Messina, Sonia, Sframeli, Maria, Vita, Gian Luca, D'Amico, Adele, van den Hauwe, Marleen, Sivo, Serena, Goemans, Nathalie, Kaufmann, Petra, Darras, Basil T., Bertini, Enrico, Muntoni, Francesco, and De Vivo, Darryl C.

Published
2016
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59. Contributors

Author

Abend, Nicholas S., primary, Back, Stephen A., additional, Darras, Basil T., additional, de Vries, Linda S., additional, du Plessis, Adré J., additional, Elitt, Christopher M., additional, Ghosh, Partha S., additional, Hüppi, Petra S., additional, Inder, Terrie E., additional, Jensen, Frances E., additional, Kinney, Hannah C., additional, Limperopoulos, Catherine, additional, McPherson, Christopher C., additional, Neil, Jeffrey J., additional, Perlman, Jeffrey M., additional, Poduri, Annapurna, additional, Robinson, Shenandoah, additional, Volpe, Joseph J., additional, and Woodward, Lianne J., additional

Published
2018
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62. Assessing Bulbar Function in Spinal Muscular Atrophy Using Patient-Reported Outcomes

Author

Dunaway Young, Sally, primary, Pasternak, Amy, additional, Duong, Tina, additional, McGrattan, Katlyn E., additional, Stranberg, Sarah, additional, Maczek, Elizabeth, additional, Dias, Courtney, additional, Tang, Whitney, additional, Parker, Dana, additional, Levine, Alexis, additional, Rohan, Alyssa, additional, Wolford, Connie, additional, Martens, William, additional, McDermott, Michael P., additional, Darras, Basil T., additional, and Day, John W., additional

Published
2023
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63. 2-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants

Author

Stimpson, Georgia, primary, Ramsey, Danielle, additional, Wolfe, Amy, additional, Mayhew, Anna, additional, Scoto, Mariacristina, additional, Baranello, Giovanni, additional, Muni Lofra, Robert, additional, Main, Marion, additional, Milev, Evelin, additional, Coratti, Giorgia, additional, Pane, Marika, additional, Sansone, Valeria, additional, D’Amico, Adele, additional, Bertini, Enrico, additional, Messina, Sonia, additional, Bruno, Claudio, additional, Albamonte, Emilio, additional, Mazzone, Elena Stacy, additional, Montes, Jacqueline, additional, Glanzman, Allan M., additional, Zolkipli-Cunningham, Zarazuela, additional, Pasternak, Amy, additional, Duong, Tina, additional, Dunaway Young, Sally, additional, Civitello, Matthew, additional, Marini-Bettolo, Chiara, additional, Day, John W., additional, Darras, Basil T., additional, De Vivo, Darryl C., additional, Finkel, Richard S., additional, Mercuri, Eugenio, additional, and Muntoni, Francesco, additional

Published
2023
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67. Additional file 1 of Real-world analysis of healthcare resource utilization by patients with X-linked myotubular myopathy (XLMTM) in the United States

Author

Graham, Robert J., Darras, Basil T., Haselkorn, Tmirah, Fisher, Dan, Genetti, Casie A., Miller, Weston, and Beggs, Alan H.

Abstract

Additional file 1. Figure S1. Regional heat map of healthcare provider locations for all 192 patients based on the NPI Registry Practice by 5-digit zip code. Table S1. Codes for planned vs unplanned hospitalization.

Published
2023
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69. Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial

Author

Masson, Riccardo, primary, Mazurkiewicz-Bełdzińska, Maria, additional, Rose, Kristy, additional, Servais, Laurent, additional, Xiong, Hui, additional, Zanoteli, Edmar, additional, Baranello, Giovanni, additional, Bruno, Claudio, additional, Day, John W, additional, Deconinck, Nicolas, additional, Klein, Andrea, additional, Mercuri, Eugenio, additional, Vlodavets, Dmitry, additional, Wang, Yi, additional, Dodman, Angela, additional, El-Khairi, Muna, additional, Gorni, Ksenija, additional, Jaber, Birgit, additional, Kletzl, Heidemarie, additional, Gaki, Eleni, additional, Fontoura, Paulo, additional, Darras, Basil T, additional, Volpe, Joseph J, additional, Posner, John, additional, Kellner, Ulrich, additional, Quinlivan, Rosaline, additional, Gerber, Marianne, additional, Khwaja, Omar, additional, Scalco, Renata S, additional, Seabrook, Timothy, additional, Koch, Armin, additional, Balikova, Irina, additional, Joniau, Inge, additional, Accou, Geraldine, additional, Tahon, Valentine, additional, Wittevrongel, Sylvia, additional, De Vos, Elke, additional, de Holanda Mendonça, Rodrigo, additional, Matsui Jr, Ciro, additional, Fornazieri Darcie, Ana Letícia, additional, Machado, Cleide, additional, Kiyoko Oyamada, Maria, additional, Martini, Joyce, additional, Polido, Graziela, additional, Rodrigues Iannicelli, Juliana, additional, Caires de Oliveira Achili Ferreira, Juliana, additional, Hu, Chaoping, additional, Zhu, Xiaomei, additional, Qian, Chen, additional, Shen, Li, additional, Li, Hui, additional, Shi, Yiyun, additional, Zhou, Shuizhen, additional, Xiao, Ying, additional, Zhou, Zhenxuan, additional, Wang, Sujuan, additional, Sang, Tian, additional, Wei, Cuijie, additional, Dong, Hui, additional, Cao, Yiwen, additional, Wen, Jing, additional, Li, Wenzhu, additional, Qin, Lun, additional, Barisic, Nina, additional, Celovec, Ivan, additional, Galiot Delic, Martina, additional, Ivkic, Petra Kristina, additional, Vukojevic, Nenad, additional, Kern, Ivana, additional, Najdanovic, Boris, additional, Skugor, Marin, additional, Tomas, Josipa, additional, Boespflug-Tanguy, Odile, additional, De Lucia, Silvana, additional, Seferian, Andrea, additional, Barreau, Emmanuel, additional, Mnafek, Nabila, additional, Peche, Helene, additional, Grange, Allison, additional, Trang Nguyen, Diem, additional, Milascevic, Darko, additional, Tachibana, Shotaro, additional, Pagliano, Emanuela, additional, Bianchi Marzoli, Stefania, additional, Santarsiero, Diletta, additional, Garcia Sierra, Myriam, additional, Tremolada, Gemma, additional, Arnoldi, Maria Teresa, additional, Vigano, Marta, additional, Dosi, Claudia, additional, Zanin, Riccardo, additional, Schembri, Veronica, additional, Brolatti, Noemi, additional, Rao, Giuseppe, additional, Tassara, Elisa, additional, Morando, Simone, additional, Tacchetti, Paola, additional, Pedemonte, Marina, additional, Priolo, Enrico, additional, Sposetti, Lorenza, additional, Comi, Giacomo Pietro, additional, Govoni, Alessandra, additional, Osnaghi, Silvia Gabriella, additional, Minorini, Valeria, additional, Abbati, Francesca, additional, Fassini, Federica, additional, Foa, Michaela, additional, Lopopolo, Amalia, additional, Pane, Marika, additional, Palermo, Concetta, additional, Pera, Maria Carmela, additional, Amorelli, Giulia Maria, additional, Barresi, Costanza, additional, D'Amico, Guglielmo, additional, Orazi, Lorenzo, additional, Coratti, Giorgia, additional, Leone, Daniela, additional, Laura, Antonaci, additional, De Sanctis, Roberto, additional, Berti, Beatrice, additional, Kimura, Naoki, additional, Takeshima, Yasuhiro, additional, Shimomura, Hideki, additional, Lee, Tomoko, additional, Gomi, Fumi, additional, Morimatsu, Takanobu, additional, Furukawa, Toru, additional, Stodolska-Koberda, Urszula, additional, Waskowska, Agnieszka, additional, Kolendo, Jagoda, additional, Sobierajska-Rek, Agnieszka, additional, Modrzejewska, Sandra, additional, Lemska, Anna, additional, Melnik, Evgenia, additional, Artemyeva, Svetlana, additional, Leppenen, Natalya, additional, Yupatova, Nataliya, additional, Monakhova, Anastasya, additional, Papina, Yulia, additional, Shidlovsckaia, Olga, additional, Litvinova, Elena, additional, Enzmann, Cornelia, additional, Galiart, Elea, additional, Gugleta, Konstantin, additional, Wondrusch Haschke, Christine, additional, Topaloglu, Haluk, additional, Oncel, Ibrahim, additional, Ertugrul, Nesibe Eroglu, additional, Konuskan, Bahadir, additional, Eldem, Bora, additional, Kadayifçilar, Sibel, additional, Alemdaroglu, Ipek, additional, Sari, Seher, additional, Bilgin, Neslihan, additional, Karaduman, Aynur Ayse, additional, Sarikaya, Fatma Gokcem Yildiz, additional, Graham, Robert J, additional, Ghosh, Partha, additional, Casavant, David, additional, Levine, Alexis, additional, Titus, Rachael, additional, Engelbrekt, Amanda, additional, Ambrosio, Lucia, additional, Fulton, Anne, additional, Baglieri, Anna Maria, additional, Dias, Courtney, additional, Maczek, Elizabeth, additional, Pasternak, Amy, additional, Beres, Shannon, additional, Duong, Tina, additional, Gee, Richard, additional, and Young, Sally, additional

Published
2022
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70. List of Contributors

Author

Abbink, Truus E.M., Abdallah, Sarah B., Agin-Liebes, Julian, Bachoo, Robert M., Baek, Peter, Baranzini, Sergio E., Bear, Lauren, Biglan, Kevin, Bloch, Michael H., Bonnet, Wilmot, Brady, Melanie, Brandsema, John F., Broccolini, Aldobrando, Brown, Robert H., Cohen, Bernard, Cole, Jordan J., Comi, Anne M., Crabbe, John C., Darras, Basil T., Delia, Domenico, Doran, Sarah, Dowling, Michael M., Dunn, Walter, Elsheikh, Bakri, Engel, Andrew G., Fahn, Stanley, Fasching, Liana, Fears, Scott C., Felling, Ryan J., Fernandez, Thomas V., Ferner, Rosalie E., Fink, John K., Gellera, Cinzia, Gillespie, Charles F., Goldman, Alica M., Gospe, Sidney M., Jr., Gu, Yian, Gutmann, David H., Hadziamehtovic, Una, Hauser, Stephen L., Hilbert, James E., Hosoi, Yasushi, Ibrahim, Ahmed N., Iliopoulos, Othon, Islam, Monica P., Jenkins, Aaron K., Jia, Xiaoming, Jungbluth, Heinz, Kane, John P., Katz, Natalie K., Kayani, Saima N., Kirkham, Fenella J., Kirkorian, A. Yasmine, Kissel, John T., Klein, Christine, Kleopa, Kleopas A., Kolb, Stephen J., Konstantakou, Evmorfia, Kruer, Michael C., Lambracht-Washington, Doris, Larson, Austin, Lee, Joseph H., Lewis, David A., Liang, Wen-Chen, Lin, Ziqiang, Lohmann, Katja, Lombroso, Paul, Lucchini, Matteo, Maher, Elizabeth A., Malloy, Mary J., Manoli, Irini, Marin-Valencia, Isaac, Marshall, Fred, Mayeux, Richard, McGarry, Andrew, Menkes, John H., Meola, Giovanni, Miller, Bruce L., Mirabella, Massimiliano, Miyajima, Hiroaki, Mizutani, Shuki, Mole, Sara E., Moxley, Richard T., III, Nemeroff, Charles B., Nemeth, Christina, Nishino, Ichizo, Noebels, Jeffrey L., Nordlie, Sandra M.H., Oksenberg, Jorge R., Oldfors, Anders, Olfson, Emily, Padilla-Lopez, Sergio, Pandolfo, Massimo, Pascual, Juan M., Patel, Shailendra B., Pena, Izabella A., Ptáček, Louis, Ralph, Jeffrey, Reilly, Mary M., Renthal, William, Reus, Victor I., Roach, E. Steve, Rosenberg, Roger N., Rosenblatt, David S., Rossor, Alexander M., Salen, Gerald, Savarese, Antonia M., Sawyer, Russell P., Scherer, Steven S., Schneider, Susanne A., Schulz, Angela, Selcen, Duygu, Shakkottai, Vikram G., Solomon, Chase, Sreedharan, Jemeen, Statland, Jeffrey M., Taroni, Franco, Tuschl, Karin, Udd, Bjarne, Umaña, Luis Alfredo, Vaccarino, Flora M., van der Knaap, Marjo S., van Karnebeek, Clara, Venditti, Charles P., Voermans, Nicol C., Volk, David W., Waldrop, Megan A., Watkins, David, Wilson, Golder N., Wilson, Kathleen S., Xia, Weiming, and Yu, Gang

Published
2025
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72. Quantitative Evaluation of Lower Extremity Joint Contractures in Spinal Muscular Atrophy: Implications for Motor Function

Author

Salazar, Rachel, Montes, Jacqueline, Dunaway Young, Sally, McDermott, Michael P., Martens, William, Pasternak, Amy, Quigley, Janet, Mirek, Elizabeth, Glanzman, Allan M., Civitello, Matt, Gee, Richard, Duong, Tina, Mazzone, Elena S., Main, Marion, Mayhew, Anna, Ramsey, Danielle, Muni Lofra, Robert, Coratti, Giorgia, Fanelli, Lavinia, De Sanctis, Roberto, Forcina, Nicola, Chiriboga, Claudia, Darras, Basil T., Tennekoon, Gihan I., Scoto, Mariacristina, Day, John W., Finkel, Richard, Muntoni, Francesco, Mercuri, Eugenio, and De Vivo, Darryl C.

Published
2018
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74. Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy

Author

Mercuri, Eugenio, Darras, Basil T., Chiriboga, Claudia A., Day, John W., Campbell, Craig, Connolly, Anne M., Iannaccone, Susan T., Kirschner, Janbernd, Kuntz, Nancy L., Saito, Kayoko, Shieh, Perry B., Tulinius, Már, Mazzone, Elena S., Montes, Jacqueline, Bishop, Kathie M., Yang, Qingqing, Foster, Richard, Gheuens, Sarah, Bennett, Frank C., Farwell, Wildon, Schneider, Eugene, De Vivo, Darryl C., and Finkel, Richard S.

Published
2018
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75. Contributors

Author

Aaen, Gregory S., primary, Abend, Nicholas Scott, additional, Abou-Hamden, Amal, additional, Allen, Jeffrey C., additional, Amato, Anthony A., additional, Amlie-Lefond, Catherine, additional, Ashwal, Stephen, additional, Bailey, Russell C., additional, Bale, James F., additional, Banwell, Brenda, additional, Barañano, Kristin W., additional, Barkovich, A. James, additional, Barohn, Richard J., additional, Bartels, Ute K., additional, Bartnik-Olson, Brenda, additional, Barzilai, Ori, additional, Bassuk, Alexander, additional, Bearden, David R., additional, Ben-Sira, Liat, additional, Bernard, Timothy J., additional, Berry-Kravis, Elizabeth, additional, Beslow, Lauren A., additional, Biegel, Jaclyn A., additional, Billinghurst, Lori, additional, Birnbaum, Angela K., additional, Blackburn, Joanna S., additional, Bobowski, Nuala, additional, Boire, Adrienne, additional, Bönnemann, Carsten G., additional, Bonifacio, Sonia L., additional, Bonthius, Daniel J., additional, Borcherding, Breck, additional, Branchford, Brian R., additional, Brandsema, John, additional, Brennan, Kathryn M., additional, Brenton, J. Nicholas, additional, Brooks-Kayal, Amy R., additional, Brown, Lawrence W., additional, Buchalter, Jeffrey, additional, Camfield, Carol S., additional, Camfield, Peter R., additional, Campoy, Cristina, additional, Carpenter, Jessica L., additional, Chang, Taeun, additional, Chau, Vann, additional, Chi, Susan N., additional, Chiriboga, Claudia A., additional, Cho, Yoon-Jae, additional, Christian, Cindy W., additional, Chrestian, Nicholas, additional, Cilio, Maria Roberta, additional, Clark, Robin D., additional, Cohen, Bruce H., additional, Cohn, Ronald D., additional, Connolly, Anne M., additional, Constable, Todd, additional, Constantini, Shlomi, additional, Conway, Jeannine M., additional, Coulter, David L., additional, Cowan, Tina M., additional, Dale, Russell C., additional, Darbro, Benjamin, additional, Darras, Basil T., additional, Dastgir, Jahannaz, additional, De Meirleir, Linda, additional, De Vivo, Darryl C., additional, de Vries, Linda S., additional, Deisch, Jeremy K., additional, Deltenre, Paul, additional, Desai, Jay, additional, Descartes, Maria, additional, deVeber, Gabrielle, additional, Dhamne, Sameer C., additional, Diaz, Jullianne, additional, DiMauro, Salvatore, additional, Dobyns, William B., additional, Doherty, Dan, additional, Donner, Elizabeth J., additional, Dosenbach, Nico U.F., additional, Dowling, James J., additional, Drake, James M., additional, Ejerskov, Cecile, additional, Engel, Andrew G., additional, Enns, Gregory M., additional, Escolano-Margarit, María Victoria, additional, Etzion, Iris, additional, Fatemi, S. Ali, additional, Fehlings, Darcy L., additional, Feinberg, Michelle Lauren, additional, Ferriero, Donna M., additional, Filipek, Pauline A., additional, Finkel, Richard S., additional, Fisher, Paul G., additional, Flanigan, Kevin, additional, Foreman, Nicholas K., additional, Franco, Israel, additional, Frank, Yitzchak, additional, Fredrick, Douglas R., additional, Freeze, Hudson H., additional, Fuente-Mora, Cristina, additional, Furman, Joseph M., additional, Gallagher, Renata C., additional, Garel, Catherine, additional, Gertsch, Emily, additional, Gilbert, Donald L., additional, Gilles, Elizabeth E., additional, Giza, Christopher C., additional, Glaser, Carol A., additional, Glass, Hannah C., additional, Glauser, Tracy, additional, Glykys, Joseph, additional, Goldstein, Amy, additional, Gonorazky, Hernan Dario, additional, Gonzalez, Rodolfo, additional, Goodkin, Howard P., additional, Graham, John M., additional, Greninger, Alexander L., additional, Gronseth, Gary, additional, Gropman, Andrea L., additional, Grundy, Richard, additional, Guerrini, Renzo, additional, Gupta, Nalin, additional, Hahn, Jin S., additional, Hamblin, Milton H., additional, Hani, Abeer J., additional, Hanmantgad, Sharyu, additional, Harbert, Mary J., additional, Harini, Chellamani, additional, Harriott, Andrea M., additional, Heatwole, Chad, additional, Hershey, Andrew D., additional, Hirtz, Deborah G., additional, Holmes, Gregory L., additional, Holshouser, Barbara A., additional, Hurwitz, Kathleen A., additional, Hwang, Eugene, additional, Ichord, Rebecca N., additional, Jafar-Nejad, Paymaan, additional, Jain, Sejal V., additional, Jordan, Lori, additional, Kabbouche, Marielle A., additional, Kacperski, Joanne, additional, Kang, Peter B., additional, Kariannis, Matthias A., additional, Kaufmann, Horacio, additional, Kaye, Harper L., additional, Keating, Robert, additional, Kennedy, Colin R., additional, Khakoo, Yasmin, additional, Kirton, Adam, additional, Kissel, John T., additional, Knupp, Kelly G., additional, Korf, Bruce R., additional, Kossoff, Eric H., additional, Kothare, Sanjeev V., additional, Kupfer, Oren, additional, LaFrance, W. Curt, additional, Latal, Beatrice, additional, Leber, Steven M., additional, Lee, Jean-Pyo, additional, Leppik, Ilo E., additional, Lerman-Sagie, Tally, additional, Lerner, Jason T., additional, Leventer, Richard J., additional, Licht, Daniel J., additional, Lichter-Konecki, Uta, additional, Lidar, Zvi, additional, Liem, Djin Gie, additional, Loddenkemper, Tobias, additional, Long, Roger K., additional, Luc, Quyen N., additional, Mackay, Mark, additional, Majnemer, Annette, additional, Makhani, Naila, additional, Malinger, Gustavo, additional, Mandelbaum, David E., additional, Maricich, Stephen M., additional, Maski, Kiran P., additional, Mathur, Mudit, additional, Matthews, Dennis J., additional, McMahon, Kelly, additional, DeMara-Hoth, Megan B., additional, Mendelsohn, Bryce, additional, Mennella, Julie A., additional, Ment, Laura R., additional, Mercuri, Eugenio, additional, Michelson, David J., additional, Mikati, Mohamad A., additional, Mikhail, Fady M., additional, Miller, Steven Paul, additional, Milunsky, Jeff M., additional, Mink, Jonathan W., additional, Mirzaa, Ghayda M., additional, Mitchell, Wendy G., additional, Mohan, Michael A., additional, Mohassel, Payam, additional, Moharir, Mahendranath, additional, Monani, Umrao R., additional, Monje Deisseroth, Michelle, additional, Moodley, Manikum, additional, Mower, Andrew, additional, Moxley, Richard T., additional, Mueller, Sabine, additional, Muotri, Alysson R., additional, Nagamani, Sandesh C.S., additional, Narayanan, Mohan J., additional, Narayanan, Vinodh, additional, Nass, Ruth D., additional, Neul, Jeffrey L., additional, Nevo, Yoram, additional, Ng, Bobby G., additional, Nickels, Katherine C., additional, Nimmo, Graeme A.M., additional, Noetzel, Michael J., additional, Norcliffe-Kaufmann, Lucy, additional, Nordli, Douglas R., additional, Nowak-Göttl, Ulrike, additional, O'Brien, Hope L., additional, Oleszek, Joyce, additional, Oskoui, Maryam, additional, Paciorkowski, Alex R., additional, Packer, Roger J., additional, Packman, Seymour, additional, Palma, Jose-Alberto, additional, Pardo, Andrea C., additional, Parsons, Julie A., additional, Partridge, John Colin, additional, Pastores, Gregory M., additional, Patterson, Marc C., additional, Pearce, William J., additional, Pearl, Phillip L., additional, Penner, Melanie, additional, Percival, Leila, additional, Pereira, Marcia, additional, Pfister, Stefan M., additional, Phillips, John, additional, Plecko, Barbara, additional, Plioplys, Sigita, additional, Poduri, Annapurna, additional, Poisson, Sharon, additional, Pomeroy, Scott L., additional, Poretti, Andrea, additional, Powers, Scott W., additional, Pranzatelli, Michael R., additional, Przekop, Allison, additional, Rabie, Malcolm, additional, Rangasamy, Sampathkumar, additional, Raymond, Gerald V., additional, Reddy, Alyssa T., additional, Rendleman, Rebecca L., additional, Rho, Jong M., additional, Rodan, Lance H., additional, Roddy, Sarah M., additional, Rogers, Elizabeth E., additional, Rosenthal, Stephen M., additional, Rosman, N. Paul, additional, Ross, M. Elizabeth, additional, Rotenberg, Alexander, additional, Rust, Robert S., additional, Sanchez, Cheryl P., additional, Sanchez, Pedro, additional, Sánchez Fernández, Iván, additional, Sands, Tristan T., additional, Sanger, Terence D., additional, Sannagowdara, Kumar, additional, Scheinost, Dustin, additional, Scher, Mark S., additional, Schor, Nina F., additional, Schrauwen, Isabelle, additional, Segal, Michael M., additional, Seinfeld, Syndi, additional, Selcen, Duygu, additional, Seltzer, Laurie E., additional, Semrud-Clikeman, Margaret, additional, Shaw, Dennis W., additional, Shaywitz, Bennett A., additional, Shaywitz, Sally E., additional, Shellhaas, Renée A., additional, Sherr, Elliott H., additional, Sheth, Rita D., additional, Shevell, Michael I., additional, Shinnar, Shlomo, additional, Shofty, Ben, additional, Shu, Stanford K., additional, Shy, Michael E., additional, Silveira Moriyama, Laura, additional, Silvestri, Nicholas J., additional, Sims, Katherine B., additional, Singer, Harvey S., additional, Singhal, Nilika Shah, additional, Smith, Craig M., additional, Smith, Edward, additional, Smith, Stephen A., additional, Snyder, Evan Y., additional, Soul, Janet, additional, Spalink, Christy L., additional, Spencer, Karen A., additional, Stafstrom, Carl E., additional, Steinfeld, Robert, additional, Strober, Jonathan B., additional, Sullivan, Joseph, additional, Swaiman, Kenneth F., additional, Swoboda, Kathryn J., additional, Tate, Elizabeth D., additional, Tatum, William O., additional, Tein, Ingrid, additional, Tekulve, Kristyn, additional, Tenney, Jeffrey R., additional, Thiele, Elizabeth A., additional, Thompson-Stone, Robert, additional, Tochen, Laura, additional, Tormoehlen, Laura M., additional, Tran, Lily, additional, Trauner, Doris A., additional, Turnacioglu, Sinan O., additional, Ullrich, Nicole J., additional, Urion, David K., additional, Van Camp, Guy, additional, Van Hirtum-Das, Michèle, additional, van Karnebeek, Clara D.M., additional, Van Maldergem, Lionel, additional, Vanderver, Adeline, additional, Vitanza, Nicholas A., additional, von Rhein, Michael, additional, von Scheven, Emily, additional, Wagner, Ann, additional, Wainwright, Mark S., additional, Walker, Melissa A., additional, Walkup, John T., additional, Walsh, Laurence, additional, Walters-Sen, Lauren C., additional, Wang, Raymond Y., additional, Warner, Thomas T., additional, Whelan, Harry T., additional, Weinberg, Geoffrey A., additional, Wells, Elizabeth M., additional, Wheless, James W., additional, Wirrell, Elaine C., additional, Wisoff, Jeffrey H., additional, Wolf, Nicole I., additional, Wolfe, Gil I., additional, Wright, F. Virginia, additional, Wycliffe, Nathaniel D., additional, Yang, Michele L., additional, Yuskaitis, Christopher J., additional, Zoghbi, Huda Y., additional, and Zupanc, Mary L., additional

Published
2017
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77. A checklist for clinical trials in rare disease: obstacles and anticipatory actions—lessons learned from the FOR-DMD trial

Author

Crow, Rebecca A., Hart, Kimberly A., McDermott, Michael P., Tawil, Rabi, Martens, William B., Herr, Barbara E., McColl, Elaine, Wilkinson, Jennifer, Kirschner, Janbernd, King, Wendy M., Eagle, Michele, Brown, Mary W., Hirtz, Deborah, Lochmuller, Hanns, Straub, Volker, Ciafaloni, Emma, Shieh, Perry B., Spinty, Stefan, Childs, Anne-Marie, Manzur, Adnan Y., Morandi, Lucia, Butterfield, Russell J., Horrocks, Iain, Roper, Helen, Flanigan, Kevin M., Kuntz, Nancy L., Mah, Jean K., Morrison, Leslie, Darras, Basil T., von der Hagen, Maja, Schara, Ulrike, Wilichowski, Ekkehard, Mongini, Tiziana, McDonald, Craig M., Vita, Giuseppe, Barohn, Richard J., Finkel, Richard S., Wicklund, Matthew, McMillan, Jr, Hugh J., Hughes, Imelda, Pegoraro, Elena, Bryan Burnette, W., Howard, James F., Thangarajh, Mathula, Campbell, Craig, Griggs, Robert C., Bushby, Kate, and Guglieri, Michela

Published
2018
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78. Nusinersen for Patients With Spinal Muscular Atrophy: 1415 Doses via an Interdisciplinary Institutional Approach

Author

Madan, Elena, primary, Carrié, Sabrina, additional, Donado, Carolina, additional, Lobo, Kimberly, additional, Souris, Michelle, additional, Laine, Regina, additional, Beers, Elizabeth, additional, Cornelissen, Laura, additional, Darras, Basil T., additional, Koka, Anjali, additional, Riley, Bobbie, additional, Dinakar, Pradeep, additional, Stone, Scellig, additional, Snyder, Brian, additional, Graham, Robert J., additional, Padua, Horacio, additional, Sethna, Navil, additional, and Berde, Charles, additional

Published
2022
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79. Motor and cognitive assessment of infants and young boys with Duchenne Muscular Dystrophy: results from the Muscular Dystrophy Association DMD Clinical Research Network

Author

Connolly, Anne M., Florence, Julaine M., Cradock, Mary M., Malkus, Elizabeth C., Schierbecker, Jeanine R., Siener, Catherine A., Wulf, Charlie O., Anand, Pallavi, Golumbek, Paul T., Zaidman, Craig M., Philip Miller, J., Lowes, Linda P., Alfano, Lindsay N., Viollet-Callendret, Laurence, Flanigan, Kevin M., Mendell, Jerry R., McDonald, Craig M., Goude, Erica, Johnson, Linda, Nicorici, Alina, Karachunski, Peter I., Day, John W., Dalton, Joline C., Farber, Janey M., Buser, Karen K., Darras, Basil T., Kang, Peter B., Riley, Susan O., Shriber, Elizabeth, Parad, Rebecca, Bushby, Kate, and Eagle, Michelle

Published
2013
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81. Natural history of infantile‐onset spinal muscular atrophy

Author

Kolb, Stephen J., Coffey, Christopher S., Yankey, Jon W., Krosschell, Kristin, Arnold, W. David, Rutkove, Seward B., Swoboda, Kathryn J., Reyna, Sandra P., Sakonju, Ai, Darras, Basil T., Shell, Richard, Kuntz, Nancy, Castro, Diana, Parsons, Julie, Connolly, Anne M., Chiriboga, Claudia A., McDonald, Craig, Burnette, W. Bryan, Werner, Klaus, Thangarajh, Mathula, Shieh, Perry B., Finanger, Erika, Cudkowicz, Merit E., McGovern, Michelle M., McNeil, D. Elizabeth, Finkel, Richard, Iannaccone, Susan T., Kaye, Edward, Kingsley, Allison, Renusch, Samantha R., McGovern, Vicki L., Wang, Xueqian, Zaworski, Phillip G., Prior, Thomas W., Burghes, Arthur H.M., Bartlett, Amy, and Kissel, John T.

Published
2017
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83. Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy

Author

Finkel, Richard S., Mercuri, Eugenio, Darras, Basil T., Connolly, Anne M., Kuntz, Nancy L., Kirschner, Janbernd, Chiriboga, Claudia A., Saito, Kayoko, Servais, Laurent, Tizzano, Eduardo, Topaloglu, Haluk, Tulinius, Már, Montes, Jacqueline, Glanzman, Allan M., Bishop, Kathie, Zhong, Z. John, Gheuens, Sarah, Bennett, C. Frank, Schneider, Eugene, Farwell, Wildon, and De Vivo, Darryl C.

Published
2017
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85. Real-world analysis of healthcare resource utilization by patients with X-linked myotubular myopathy (XLMTM) in the United States.

Author

Graham, Robert J., Darras, Basil T., Haselkorn, Tmirah, Fisher, Dan, Genetti, Casie A., Miller, Weston, and Beggs, Alan H.

Subjects
*FEEDING tubes, *MUSCLE diseases, *TUBE feeding, *NOSOLOGY, *MEDICAL coding, *THIRD-party software
Abstract

Background: X-linked myotubular myopathy (XLMTM) is a rare, life-threatening congenital myopathy with multisystem involvement, often requiring invasive ventilator support, gastrostomy tube feeding, and wheelchair use. Understanding healthcare resource utilization in patients with XLMTM is important for development of targeted therapies but data are limited. Methods: We analyzed individual medical codes as governed by Healthcare Common Procedure Coding System, Current Procedural Terminology, and International Classification of Diseases, 10th Revision (ICD-10) for a defined cohort of XLMTM patients within a US medical claims database. Using third-party tokenization software, we defined a cohort of XLMTM patient tokens from a de-identified dataset in a research registry of diagnostically confirmed XLMTM patients and de-identified data from a genetic testing company. After approval of an ICD-10 diagnosis code for XLMTM (G71.220) in October 2020, we identified additional patients. Results: A total of 192 males with a diagnosis of XLMTM were included: 80 patient tokens and 112 patients with the new ICD-10 code. From 2016 to 2020, the annual number of patients with claims increased from 120 to 154 and the average number of claims per patient per year increased from 93 to 134. Of 146 patients coded with hospitalization claims, 80 patients (55%) were first hospitalized between 0 and 4 years of age. Across all patients, 31% were hospitalized 1–2 times, 32% 3–9 times, and 14% ≥ 10 times. Patients received care from multiple specialty practices: pulmonology (53%), pediatrics (47%), neurology (34%), and critical care medicine (31%). The most common conditions and procedures related to XLMTM were respiratory events (82%), ventilation management (82%), feeding difficulties (81%), feeding support (72%), gastrostomy (69%), and tracheostomy (64%). Nearly all patients with respiratory events had chronic respiratory claims (96%). The most frequent diagnostic codes were those investigating hepatobiliary abnormalities. Conclusions: This innovative medical claims analysis shows substantial healthcare resource use in XLMTM patients that increased over the last 5 years. Most patients required respiratory and feeding support and experienced multiple hospitalizations throughout childhood and beyond for those that survived. This pattern delineation will inform outcome assessments with the emergence of novel therapies and supportive care measures. [ABSTRACT FROM AUTHOR]

Published
2023
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86. Diagnostic capabilities of nanopore long‐read sequencing in muscular dystrophy

Author

Bruels, Christine C., primary, Littel, Hannah R., additional, Daugherty, Audrey L., additional, Stafki, Seth, additional, Estrella, Elicia A., additional, McGaughy, Emily S., additional, Truong, Don, additional, Badalamenti, Jonathan P., additional, Pais, Lynn, additional, Ganesh, Vijay S., additional, O'Donnell‐Luria, Anne, additional, Stalker, Heather J., additional, Wang, Yang, additional, Collins, Christin, additional, Behlmann, Andrea, additional, Lemmers, Richard J. L. F., additional, van der Maarel, Silvère M., additional, Laine, Regina, additional, Ghosh, Partha S., additional, Darras, Basil T., additional, Zingariello, Carla D., additional, Pacak, Christina A., additional, Kunkel, Louis M., additional, and Kang, Peter B., additional

Published
2022
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87. Pooled Safety Data from the Risdiplam Clinical Trial Development Program (P18-5.001)

Author

Darras, Basil T., primary, Chiriboga, Claudia A., additional, Servais, Laurent, additional, Baranello, Giovanni, additional, Bertini, Enrico, additional, Day, John W., additional, Deconinck, Nicolas, additional, Fischer, Dirk, additional, Goemans, Nathalie, additional, Kirschner, Janbernd, additional, Klein, Andrea, additional, Masson, Riccardo, additional, Mazurkiewicz-Bełdzińska, Maria, additional, Wang, Yi, additional, Bader-Weder, Silvia, additional, Gorni, Ksenija, additional, Jaber, Birgit, additional, McIver, Tammy, additional, Scalco, Renata, additional, and Mercuri, Eugenio, additional

Published
2022
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88. MANATEE: A Study of RO7204239 in Combination with Risdiplam Treatment in Pediatric Patients with SMA (P16-5.002)

Author

Duong, Tina, primary, Darras, Basil T., additional, Morrow, Jasper, additional, Muntoni, Francesco, additional, Servais, Laurent, additional, Carruthers, Imogen, additional, Gerber, Marianne, additional, Kletzl, Heidemarie, additional, Martin, Carmen, additional, Zhang, Beini B., additional, Scalco, Renata S., additional, and Mercuri, Eugenio, additional

Published
2022
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89. FIREFISH Parts 1 and 2: 24-month Safety and Efficacy of Risdiplam in Type 1 SMA (S39.005)

Author

Darras, Basil T., primary, Boespflug-Tanguy, Odile, additional, Day, John W., additional, Deconinck, Nicolas, additional, Klein, Andrea, additional, Masson, Riccardo, additional, Mazurkiewicz-Bełdzińska, Maria, additional, Mercuri, Eugenio, additional, Rose, Kristy, additional, Servais, Laurent, additional, Vlodavets, Dmitry, additional, Xiong, Hui, additional, Zanoteli, Edmar, additional, Dodman, Angela, additional, El-Khairi, Muna, additional, Gaki, Eleni, additional, Gerber, Marianne, additional, Gorni, Ksenija, additional, Kletzl, Heidemarie, additional, and Baranello, Giovanni, additional

Published
2022
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91. Distribution of Weight, Stature and Growth Status in Children and Adolescents with Spinal Muscular Atrophy: An Observational Retrospective Study in the United States

Author

Darras, Basil T., primary, Guye, Sabrina, additional, Hoffart, Janine, additional, Schneider, Sophie, additional, Gravestock, Isaac, additional, Gorni, Ksenija, additional, Fuerst‐Recktenwald, Sabine, additional, Scalco, Renata S., additional, Finkel, Richard S., additional, and De Vivo, Darryl C., additional

Published
2022
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92. Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review

Author

Morton, Sarah U., primary, Christodoulou, John, additional, Costain, Gregory, additional, Muntoni, Francesco, additional, Wakeling, Emma, additional, Wojcik, Monica H., additional, French, Courtney E., additional, Szuto, Anna, additional, Dowling, James J., additional, Cohn, Ronald D., additional, Raymond, F. Lucy, additional, Darras, Basil T., additional, Williams, David A., additional, Lunke, Sebastian, additional, Stark, Zornitza, additional, Rowitch, David H., additional, and Agrawal, Pankaj B., additional

Published
2022
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93. Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial

Author

Masson, Riccardo, Mazurkiewicz-Bełdzińska, Maria, Rose, Kristy, Servais, Laurent, Xiong, Hui, Zanoteli, Edmar, Baranello, Giovanni, Bruno, Claudio, Day, John W, Deconinck, Nicolas, Klein, Andrea, Mercuri, Eugenio, Vlodavets, Dmitry, Wang, Yi, Dodman, Angela, El-Khairi, Muna, Gorni, Ksenija, Jaber, Birgit, Kletzl, Heidemarie, Gaki, Eleni, Fontoura, Paulo, and Darras, Basil T

Subjects
610 Medizin und Gesundheit
Abstract

BACKGROUND Risdiplam is an orally administered therapy that modifies pre-mRNA splicing of the survival of motor neuron 2 (SMN2) gene and is approved for the treatment of spinal muscular atrophy. The FIREFISH study is investigating the safety and efficacy of risdiplam in treated infants with type 1 spinal muscular atrophy versus historical controls. The primary endpoint of part 2 of the FIREFISH study showed that infants with type 1 spinal muscular atrophy attained the ability to sit without support for at least 5 s after 12 months of treatment. Here, we report on the safety and efficacy of risdiplam in FIREFISH part 2 over 24 months of treatment. METHODS FIREFISH is an ongoing, multicentre, open-label, two-part study. In FIREFISH part 2, eligible infants (aged 1-7 months at enrolment, with a genetically confirmed diagnosis of spinal muscular atrophy, and two SMN2 gene copies) were enrolled in 14 hospitals in ten countries across Europe, North America, South America, and Asia. Risdiplam was orally administered once daily at 0·2 mg/kg for infants between 5 months and 2 years of age; once an infant reached 2 years of age, the dose was increased to 0·25 mg/kg. Infants younger than 5 months started at 0·04 mg/kg (infants between 1 month and 3 months old) or 0·08 mg/kg (infants between 3 months and 5 months old), and this starting dose was adjusted to 0·2 mg/kg once pharmacokinetic data were available for each infant. The primary and secondary endpoints included in the statistical hierarchy and assessed at month 12 have been reported previously. Here we present the remainder of the secondary efficacy endpoints that were included in the statistical hierarchy at month 24: the ability to sit without support for at least 30 s, to stand alone, and to walk alone, as assessed by the Bayley Scales of Infant and Toddler Development, third edition gross motor subscale. These three endpoints were compared with a performance criterion of 5% that was defined based on the natural history of type 1 spinal muscular atrophy; the results were considered statistically significant if the lower limit of the two-sided 90% CI was above the 5% threshold. FIREFISH is registered with ClinicalTrials.gov, NCT02913482. Recruitment is closed; the 36-month extension period of the study is ongoing. FINDINGS Between March 13 and Nov 19, 2018, 41 infants were enrolled in FIREFISH part 2. After 24 months of treatment, 38 infants were ongoing in the study and 18 infants (44% [90% CI 31-58]) were able to sit without support for at least 30 s (p

Published
2022
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94. Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls

Author

Darras, Basil T, Masson, Riccardo, Mazurkiewicz-Bełdzińska, Maria, Rose, Kristy, Xiong, Hui, Zanoteli, Edmar, Baranello, Giovanni, Bruno, Claudio, Vlodavets, Dmitry, Wang, Yi, El-Khairi, Muna, Gerber, Marianne, Gorni, Ksenija, Khwaja, Omar, Kletzl, Heidemarie, Scalco, Renata S, Fontoura, Paulo, Servais, Laurent, Joseph J, Volpe, John, Posner, Armin, Koch, Ulrich, Kellner, Rosaline, Quinlivan, Nicolas, Deconinck, Irina, Balikova, Patricia, Delbeke, Inge, Joniau, Valentine, Tahon, Sylvia, Wittevrongel, Elke De Vos, Rodrigo de Holanda Mendonça, Ciro Matsui Jr, Ana Letícia Fornazieri Darcie, Cleide, Machado, Maria Kiyoko Oyamada, Daniel de Souza Costa, Joyce, Martini, Graziela, Polido, Juliana Rodrigues Iannicelli, Juliana Caires de Oliveira Achili Ferreira, Chaoping, Hu, Yiyun, Shi, Shuizhen, Zhou, Xiaomei, Zhu, Chen, Qian, Shen, Li, Ying, Xiao, Zhenxuan, Zhou, Hui, Li, Sujuan, Wang, Tian, Sang, Cuijie, Wei, Jing, Wen, Yiwen, Cao, Wenzhu, Li, Lun, Qin, Nina, Barisic, Ivan, Celovec, Martina, Martina, Galiot, Delic, Petra Kristina Ivkić, Nenad, Vukojević, Ivana, Kern, Boris, Najdanovic, Marin, Skugor, Odile, Boespflug-Tanguy, Teresa, Gidaro, Andrea, Seferian, Emmanuel, Barreau, Elodie Da Cunha, Céline, Lambotin, Nabila, Mnafek, Helene, Peche, Stephanie, Gilabert, Allison, Grange, Charlotte, Lilien, Darko, Milascevic, Ariadna, Perticari, Shotaro, Tachibana, Emanuela, Pagliano, Stefania Bianchi Marzoli, Diletta, Santarsiero, Myriam Garcia Sierra, Gemma, Tremolada, Maria Teresa Arnoldi, Marta, Vigano, Riccardo, Zanin, Noemi, Brolatti, Marina, Pedemonte, Enrico, Priolo, Giuseppe, Rao, Enrica, Spaletra, Lorenza, Sposetti, Elisa, Tassara, Simone, Morando, Paola, Tacchetti, Giacomo Pietro Comi, Alessandra, Govoni, Silvia Gabriella Osnaghi, Valeria, Minorini, Francesca, Abbati, Federica, Fassini, Michaela, Foa, Amalia, Lopopolo, Elisa, Minuti, Mercuri, Eugenio Maria, Pane, Marika, Concetta, Palermo, Pera, Maria Carmela, Amorelli, Giulia Maria, Costanza, Barresi, Gugliemo, D'Amico, Orazi, Lorenzo, Coratti, Giorgia, De Sanctis, Roberto, Yasuhiro, Takeshima, Fumi, Gomi, Naoki, Kimura, Takanobu, Morimatsu, Mana, Okamoto, Toru, Furukawa, Mateusz, Koberda, Natalia, Kubiak, Urszula, Stodolska-Koberda, Agnieszka, Waśkowska, Jagoda, Kolendo, Agnieszka, Sobierajska-Rek, Svetlana, Artemyeva, Evgenia, Melnik, Natalya, Leppenen, Nataliya, Yupatova, Elena, Litvinova, Anastasya, Monakhova, Yulia, Papina, Olga, Shidlovsckaia, Andrea, Klein, Cornelia, Enzmann, Elea, Galiart, Konstantin, Gugleta, Patricia, Siems, Verena, Kreiliger, Christine Wondrusch Haschke, Haluk, Topaloglu, Ibrahim, Oncel, Didem, Ardicli, Nesibe Eroglu Ertugrul, Hizal, Gharibzadeh, Ceren, Gunbey, Bahadir, Konuskan, Selen Serel Arslan, Elams Ebru Yalcin, Fatma Gokcem Yildiz Sarikaya, Bora, Eldem, Sibel, Kadayıfçılar, Ipek, Alemdaroglu, Aynur Ayse Karaduman, Oznur Tunca Yilmaz, Robert, J Graham, Partha, Ghosh, David, Casavant, Brian, Snyder, Alexis, Levine, Rachael, Titus, Amanda, Engelbrekt, Lucia, Ambrosio, Anne, Fulton, Anna Maria Baglieri, Courtney, Dias, Elizabeth, Maczek, Elizabeth, Mirek, Amy, Pasternak, John, W Day, Shannon, Beres, Tina, Duong, Richard, Gee, Sally, Young, Darras, Basil T, Masson, Riccardo, Mazurkiewicz-Bełdzińska, Maria, Rose, Kristy, Xiong, Hui, Zanoteli, Edmar, Baranello, Giovanni, Bruno, Claudio, Vlodavets, Dmitry, Wang, Yi, El-Khairi, Muna, Gerber, Marianne, Gorni, Ksenija, Khwaja, Omar, Kletzl, Heidemarie, Scalco, Renata S, Fontoura, Paulo, Servais, Laurent, and Ambrosio, Lucia

Subjects
Male, medicine.medical_specialty, Neuromuscular disease, Risdiplam, Type 1 Spinal Muscular Atrophy, treated infants, historical controls, MEDLINE, Spinal Muscular Atrophies of Childhood, Severity of Illness Index, Text mining, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Internal medicine, Severity of illness, medicine, Humans, Progression-free survival, 610 Medicine & health, business.industry, Historically Controlled Study, Infant, General Medicine, Spinal muscular atrophy, SMA, medicine.disease, Progression-Free Survival, Settore MED/26 - NEUROLOGIA, Pyrimidines, Neuromuscular Agents, Motor Skills, Female, business, Azo Compounds
Abstract

BACKGROUND Type 1 spinal muscular atrophy (SMA) is a progressive neuromuscular disease characterized by an onset at 6 months of age or younger, an inability to sit without support, and deficient levels of survival of motor neuron (SMN) protein. Risdiplam is an orally administered small molecule that modifies SMN2 pre-messenger RNA splicing and increases levels of functional SMN protein in blood. METHODS We conducted an open-label study of risdiplam in infants with type 1 SMA who were 1 to 7 months of age at enrollment. Part 1 of the study (published previously) determined the dose to be used in part 2 (reported here), which assessed the efficacy and safety of daily risdiplam as compared with no treatment in historical controls. The primary end point was the ability to sit without support for at least 5 seconds after 12 months of treatment. Key secondary end points were a score of 40 or higher on the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND; range, 0 to 64, with higher scores indicating better motor function), an increase of at least 4 points from baseline in the CHOP-INTEND score, a motor-milestone response as measured by Section 2 of the Hammersmith Infant Neurological Examination (HINE-2), and survival without permanent ventilation. For the secondary end points, comparisons were made with the upper boundary of 90% confidence intervals for natural-history data from 40 infants with type 1 SMA. RESULTS A total of 41 infants were enrolled. After 12 months of treatment, 12 infants (29%) were able to sit without support for at least 5 seconds, a milestone not attained in this disorder. The percentages of infants in whom the key secondary end points were met as compared with the upper boundary of confidence intervals from historical controls were 56% as compared with 17% for a CHOP-INTEND score of 40 or higher, 90% as compared with 17% for an increase of at least 4 points from baseline in the CHOP-INTEND score, 78% as compared with 12% for a HINE-2 motor-milestone response, and 85% as compared with 42% for survival without permanent ventilation (P

Published
2021

98. Contributors

Author

Anderson (John), Peter, Bora, Samudragupta, Cayam-Rand, Dalit, Chalak, Lina, Chau, Vann, Darras, Basil T., Dastgir, Jahannaz, de Vries, Linda S., El-Dib, Mohamed, Garfinkle, Jarred, Glass, Hannah C., Harding, Jane E., Hüppi, Petra S., Inder, Terrie, Kabani, Nazia, Kasdorf, Ericalyn, Kaufman, David A., Keene, Jennifer C., Kimberlin, David W., Laptook, Abbot R., Lodygensky, Gregory A., McCarty, Dana, Starobinski, Caroline Menache, Miller, Steven Paul, Noori, Shahab, Perlman, Jeffrey M., Pineda, Roberta, Sánchez, Pablo J., Seed, Mike, Selvanathan, Thiviya, Sen, Sarbattama, Seri, Istvan, Tam, Emily W.Y., Tataranno, Maria Luisa, Weeke, Lauren C., Whitelaw, Andrew, Yap, Vivien L., Yeo, Crystal Jing Jing, and Zanelli, Santina A.

Published
2024
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100. Introduction

Author

De Vivo, Darryl C., primary, Darras, Basil T., additional, Ryan, Monique M., additional, and Jones, H. Royden, additional

Published
2015
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