المؤلفون: Marika Pane, Beatrice Berti, Anna Capasso, Giorgia Coratti, Antonio Varone, Adele D’Amico, Sonia Messina, Riccardo Masson, Valeria Ada Sansone, Maria Alice Donati, Caterina Agosto, Claudio Bruno, Federica Ricci, Antonella Pini, Delio Gagliardi, Massimiliano Filosto, Stefania Corti, Daniela Leone, Concetta Palermo, Roberta Onesimo, Roberto De Sanctis, Martina Ricci, Ilaria Bitetti, Maria Sframeli, Claudia Dosi, Emilio Albamonte, Chiara Ticci, Noemi Brolatti, Enrico Bertini, Richard Finkel, Eugenio Mercuri, Maria Carmela Pera, Chiara Bravetti, Marco Piastra, Orazio Genovese, Gianpaolo Cicala, Nicola Forcina, Sara Carnicella, Giulia Stanca, Michele Sacchini, Michela Catteruccia, Michele Tosi, Renato Cutrera, Claudio Chierchi, Maria Beatrice Chiarini, Francesca Salmin, Marina Pedemonte, Alessandra Govoni, Irene Mizzoni, Simone Morando, Riccardo Zanin, Enrica Rolle, Eleonora Salomon, Melania Giannotta, Gaia Scarpini, Antonio Toscano, Eloisa Gitto, Roberto Materia, Rossella D’Alessandro

المصدر: EClinicalMedicine, Vol 59, Iss , Pp 101997- (2023)

مصطلحات موضوعية: Spinal muscular atrophy, Gene therapy, Follow-up, Longitudinal, Safety, Medicine (General), R5-920

الوصف: Summary: Background: Efficacy and safety of onasemnogene abeparvovec (OA) for Spinal Muscular Atrophy infants under 7 months and

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2589537023001748Test; https://doaj.org/toc/2589-5370Test

الوصول الحر: https://doaj.org/article/40165d9821824625a9a6285a88f2fdbcTest

المؤلفون: Marika Pane, Giorgia Coratti, Maria Carmela Pera, Valeria A. Sansone, Sonia Messina, Adele d'Amico, Claudio Bruno, Francesca Salmin, Emilio Albamonte, Roberto De Sanctis, Maria Sframeli, Vincenzo Di Bella, Simone Morando, Concetta Palermo, Anna Lia Frongia, Laura Antonaci, Anna Capasso, Michela Catteruccia, Antonella Longo, Martina Ricci, Costanza Cutrona, Alice Pirola, Chiara Bravetti, Marina Pedemonte, Noemi Brolatti, Enrico Bertini, Eugenio Mercuri, Italian ISMAC group

المصدر: Annals of Clinical and Translational Neurology, Vol 9, Iss 3, Pp 404-409 (2022)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

الوصف: Abstract The study reports real world data in type 2 and 3 SMA patients treated for at least 2 years with nusinersen. Increase in motor function was observed after 12 months and during the second year. The magnitude of change was variable across age and functional subgroup, with the largest changes observed in young patients with higher function at baseline. When compared to natural history data, the difference between study cohort and untreated patients swas significant on both Hammersmith Functional Motor Scale and Revised Upper Limb Module both at 12 months and at 24 months.

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2328-9503Test

الوصول الحر: https://doaj.org/article/ca19ba70fc7d4dc28c30c6fa96bec970Test

المؤلفون: Maria Carmela Pera, Giorgia Coratti, Francesca Bovis, Marika Pane, Amy Pasternak, Jacqueline Montes, Valeria A. Sansone, Sally Dunaway Young, Tina Duong, Sonia Messina, Irene Mizzoni, Adele D’Amico, Matthew Civitello, Allan M. Glanzman, Claudio Bruno, Francesca Salmin, Simone Morando, Roberto De Sanctis, Maria Sframeli, Laura Antonaci, Anna Lia Frongia, Annemarie Rohwer, Mariacristina Scoto, Darryl C. De Vivo, Basil T. Darras, John Day, William Martens, Katia A. Patanella, Enrico Bertini, Francesco Muntoni, Richard Finkel, Eugenio Mercuri, the iSMAC group

المصدر: Annals of Clinical and Translational Neurology, Vol 8, Iss 8, Pp 1622-1634 (2021)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

الوصف: Abstract Objective We report longitudinal data from 144 type III SMA pediatric and adult patients treated with nusinersen as part of an international effort. Methods Patients were assessed using Hammersmith Functional Motor Scale Expanded (HFMSE), Revised Upper Limb Module (RULM), and 6‐Minute Walk Test (6MWT) with a mean follow‐up of 1.83 years after nusinersen treatment. Results Over 75% of the 144 patients had a 12‐month follow‐up. There was an increase in the mean scores from baseline to 12 months on both HFMSE (1.18 points, p = 0.004) and RULM scores (0.58 points, p = 0.014) but not on the 6MWT (mean difference = 6.65 m, p = 0.33). When the 12‐month HFMSE changes in the treated cohort were compared to an external cohort of untreated patients, in all untreated patients older than 7 years, the mean changes were always negative, while always positive in the treated ones. To reduce a selection bias, we also used a multivariable analysis. On the HFMSE scale, age, gender, baseline value, and functional status contributed significantly to the changes, while the number of SMN2 copies did not contribute. The effect of these variables was less obvious on the RULM and 6MWT. Interpretation Our results expand the available data on the effect of Nusinersen on type III patients, so far mostly limited to data from adult type III patients.

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2328-9503Test

الوصول الحر: https://doaj.org/article/934d5becf2b645da80440f5df9f6f4deTest

المؤلفون: Chiara Panicucci, Sara Casalini, Beatrice M. Damasio, Noemi Brolatti, Marina Pedemonte, Alessandra Biolcati Rinaldi, Simone Morando, Luca Doglio, Lizzia Raffaghello, Chiara Fiorillo, Federico Zara, Giorgio Tasca, Claudio Bruno

المصدر: Brain and Development. 45:306-313

مصطلحات موضوعية: Developmental Neuroscience, Pediatrics, Perinatology and Child Health, Neurology (clinical), General Medicine

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::bdeb0ed8097b916b00587cd0381c19c7Test
https://doi.org/10.1016/j.braindev.2023.01.010Test

المؤلفون: Pane, Marika, Berti, Beatrice, Capasso, Anna, Coratti, Giorgia, Varone, Antonio, D'Amico, Adele, Messina, Sonia, Masson, Riccardo, Sansone, Valeria Ada, Donati, Maria Alice, Agosto, Caterina, Bruno, Claudio, Ricci, Federica, Pini, Antonella, Gagliardi, Delio, Filosto, Massimiliano, Corti, Stefania, Leone, Daniela, Palermo, Concetta, Onesimo, Roberta, De Sanctis, Roberto, Ricci, Martina, Bitetti, Ilaria, Sframeli, Maria, Dosi, Claudia, Albamonte, Emilio, Ticci, Chiara, Brolatti, Noemi, Bertini, Enrico, Finkel, Richard, Mercuri, Eugenio, ITASMAc group, Maria Carmela Pera, Chiara Bravetti, Marco Piastra, Orazio Genovese, Gianpaolo Cicala, Nicola Forcina, Sara Carnicella, Giulia Stanca, Michele Sacchini, Michela Catteruccia, Michele Tosi, Renato Cutrera, Claudio Cherchi, Maria Beatrice Chiarini, Francesca Salmin, Marina Pedemonte, Alessandra Govoni, Irene Mizzoni, Simone Morando, Riccardo Zanin, Enrica Rolle, Eleonora Salomon, Melania Giannotta, Gaia Scarpini, Antonio Toscano, Eloisa Gitto, Roberto Materia, Rossella D'Alessandro

المساهمون: Pane, Marika, Berti, Beatrice, Capasso, Anna, Coratti, Giorgia, Varone, Antonio, D'Amico, Adele, Messina, Sonia, Masson, Riccardo, Sansone, Valeria Ada, Donati, Maria Alice, Agosto, Caterina, Bruno, Claudio, Ricci, Federica, Pini, Antonella, Gagliardi, Delio, Filosto, Massimiliano, Corti, Stefania, Leone, Daniela, Palermo, Concetta, Onesimo, Roberta, De Sanctis, Roberto, Ricci, Martina, Bitetti, Ilaria, Sframeli, Maria, Dosi, Claudia, Albamonte, Emilio, Ticci, Chiara, Brolatti, Noemi, Bertini, Enrico, Finkel, Richard, Mercuri, Eugenio, Group, Itasmac, Maria Carmela Pera, Bravetti, Chiara, Piastra, Marco, Genovese, Orazio, Cicala, Gianpaolo, Forcina, Nicola, Carnicella, Sara, Stanca, Giulia, Sacchini, Michele, Catteruccia, Michela, Tosi, Michele, Cutrera, Renato, Cherchi, Claudio, Maria Beatrice Chiarini, Salmin, Francesca, Pedemonte, Marina, Govoni, Alessandra, Mizzoni, Irene, Morando, Simone, Zanin, Riccardo, Rolle, Enrica, Salomon, Eleonora, Giannotta, Melania, Scarpini, Gaia, Toscano, Antonio, Gitto, Eloisa, Materia, Roberto, D'Alessandro, Rossella

مصطلحات موضوعية: Follow-up, Gene therapy, Longitudinal, Safety, Spinal muscular atrophy

الوصف: Background Efficacy and safety of onasemnogene abeparvovec (OA) for Spinal Muscular Atrophy infants under 7 months and <8.5 kg has been reported in clinical trials. This study examines efficacy and safety predictors in a wide age (22 days-72 months) and weight (3.2-17 kg) range, also including patients previously treated with other drugs. Methods 46 patients were treated for 12 months between January 2020 and March 2022. Safety profile was also available for another 21 patients with at least 6 month follow-up after OA infusion. 19/67 were treatment naive when treated with OA. Motor function was measured with the CHOP-INTEND. Findings CHOP-INTEND changes varied among age groups. Baseline score and age at OA treatment best predicted changes. A mixed model post-hoc analysis showed that in patients treated before the age of 24 months the CHOP-INTEND changes were already significant 3 months after OA while in those treated after the age of 24 months the difference was only significant 12 months after OA. Adverse events occurred in 51/67. The risk for elevated transaminases serum levels was higher in older patients. This was also true for weight and for pre-treatment with nusinersen when analysed individually. A binomial negative regression analysis showed that only age at OA treatment had a significant effect on the risk of elevated transaminases. Interpretation Our paper describes OA 12-month follow-up showing efficacy across various age and weight groups not targeted by clinical trials. The study identifies prognostic factors for safety and efficacy in treatment selection. Copyright (c) 2023 Published by Elsevier Ltd. This is an open access article under the CC BY-NC-ND license (http:// creativecommons.org/licenses/by-nc-nd/4.0/).

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37197706; info:eu-repo/semantics/altIdentifier/wos/WOS:001003242800001; volume:59; issue:101997; firstpage:1; lastpage:13; numberofpages:13; journal:ECLINICALMEDICINE; https://hdl.handle.net/11570/3286115Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85156145054

الإتاحة: https://doi.org/10.1016/j.eclinm.2023.101997Test
https://hdl.handle.net/11570/3286115Test

المؤلفون: Claudia A. Chiriboga, Claudio Bruno, Tina Duong, Dirk Fischer, Eugenio Mercuri, Janbernd Kirschner, Anna Kostera-Pruszczyk, Birgit Jaber, Ksenija Gorni, Heidemarie Kletzl, Imogen Carruthers, Carmen Martin, Francis Warren, Renata S. Scalco, Kathryn R. Wagner, Francesco Muntoni, Nicolas Deconinck, Irina Balikova, Inge Joniau, Valentine Tahon, Sylvia Wittevrongel, Nathalie Goemans, Catherine Cassiman, Lies Prove, Lisa Vancampenhout, Marleen van den Hauwe, Annelies Van Impe, Claude Cances, Vincent Soler, Lauriane Maillard De La Morandais, Delphine Vovan, Pascal Cintas, Françoise Auriol, Marianne Mus, Gwennaelle Alphonsa, Valerie Bellio, Olaia Gil Mato, Florence Flamein, Cécile Evrard, Amina Ziouche, Ikram Bouacha-Allou, Philippe Debruyne, Gilles Derlyn, Sabine Defoort, Florian Leroy, Loïc Danjoux, Isabelle Desguerre, Dominique Bremond-Gignac, Maxence Rateuax, Elodie Deladrière, Carole Vuillerot, Quentin Veillerot, Bénédicte Sibille-Dabadi, Aurélie Barrière, Marie Tinat, Manel Saidi, Stephanie Fontaine, Camille De Montferrand, Laure Le-Goff, Aurélie Portefaix, Ulrike Walther Louvier, Pierre-André Duval, Pascale Caradec, Souad Touati, Alberto Zamora Herranz, Jan Bollig, ù Fanni Molnár, Sibylle Vogt, Astrid Pechmann, David Schorling, Sabine Wider, Heike Kölbel, Ulrike Schara, Frederik Braun, Andrea Gangfuss, Tim Hagenacker, Anja Eckstein, Dirk Dekowski, Michael Oeverhaus, Mareile Stoehr, Barbara Andres, Karin Smuda, Enrico Bertini, Adele D'Amico, Sergio Petroni, Paola Valente, Anna Maria Bonetti, Adelina Carlesi, Irene Mizzoni, Marina Pedemonte, Noemi Brolatti, Enrico Priolo, Giuseppe Rao, Lorenza Sposetti, Simone Morando, Giacomo Comi, Silvia Osnaghi, Valeria Minorini, Francesca Abbati, Federica Fassini, Michaela Foà, Maria Amalia Lopopolo, Francesca Magri, Alessandra Govoni, Megi Meneri, Valeria Parente, Laura Antonaci, Maria Carmela Pera, Marika Pane, Giulia Maria Amorelli, Costanza Barresi, Guglielmo D'Amico, Lorenzo Orazi, Giorgia Coratti, Roberto De Sanctis, Giuseppe Vita, Maria Sframeli, Gian Luca Vita, Pasquale Aragona, Leandro Inferrera, Elisa Imelde Postorino, Daniela Montanini, Vincenzo Di Bella, Concetta Donato, Elisabetta Calà, Ludo Van der Pol, Jos Aalbers, Joke de Boer, Saskia Imhof, Pascale Cooijmans, Thijs Ruyten, Danny Van Der Woude, Beata Klimaszewska, Dominika Romańczak, Zuzanna Gierlak-Wójcicka, Malwina Kępa, Adam Sikorski, Marcin Sobieraj, Anna Lusakowska, Biruta Kierdaszuk, Karolina Czeczko, Bettina Henzi, Konstantin Gugleta, Akos Kusnyerik, Patricia Siems, Sabina Akos, Nora Frei, Christine Seppi, Christine Wondrusch Haschke, Michela Guglieri, Volker Straub, Richard Bell, Mahmoud Nassar, Stuart Page, Michael Patrick Clarke, Aedheen Regan, Anna Mayhew, Robert Muni Lofra, Deepak Parasuraman, Simone Bruschi, Abdul-Jabbar Ghauri, Andrew Castle, Saima Naqvi, Nicola Patt, Mariacristina Scoto, Federica Trucco, Robert H Henderson, Roopen Kukadia, Will Moore, Evelin Milev, Catherine Rye, Victoria Selby, Amy Wolfe, Basil Darras, Anna Maria Baglieri, Anne Fulton, Courtney Lucken, Elizabeth Maczek, Amy Pasternak, Claudia A Chiriboga, Steven Kane, Ma Edylin M Bautista, Eileen Frommer, Noelle Pensec, Rachel Salazar, Cara Yochai, Rafael Rodrigues-Torres, Manroop Chawla, John Day, Shannon Beres, Richard Gee, Sally Dunaway Young, Richard Finkel, Aledie Navas Nazario, Airaj Fasiuddin, Julie A Wells, Jennifer Wilson, Debbie Berry, Virgina Rizzo, Julie Duke, Migvis Monduy, Jorge Collado.

المساهمون: Chiriboga, Claudia A., Bruno, Claudio, Duong, Tina, Fischer, Dirk, Mercuri, Eugenio, Kirschner, Janbernd, Kostera-Pruszczyk, Anna, Jaber, Birgit, Gorni, Ksenija, Kletzl, Heidemarie, Carruthers, Imogen, Martin, Carmen, Warren, Franci, Scalco, Renata S., Wagner, Kathryn R., Muntoni, Francesco, Deconinck, Nicola, Balikova, Irina, Joniau, Inge, Tahon, Valentine, Wittevrongel, Sylvia, Goemans, Nathalie, Cassiman, Catherine, Prove, Lie, Vancampenhout, Lisa, van den Hauwe, Marleen, Van Impe, Annelie, Cances, Claude, Soler, Vincent, Maillard De La Morandais, Lauriane, Vovan, Delphine, Cintas, Pascal, Auriol, Françoise, Mus, Marianne, Alphonsa, Gwennaelle, Bellio, Valerie, Gil Mato, Olaia, Flamein, Florence, Evrard, Cécile, Ziouche, Amina, Bouacha-Allou, Ikram, Debruyne, Philippe, Derlyn, Gille, Defoort, Sabine, Leroy, Florian, Danjoux, Loïc, Desguerre, Isabelle, Bremond-Gignac, Dominique, Rateuax, Maxence, Deladrière, Elodie, Vuillerot, Carole, Veillerot, Quentin, Sibille-Dabadi, Bénédicte, Barrière, Aurélie, Tinat, Marie, Saidi, Manel, Fontaine, Stephanie, De Montferrand, Camille, Le-Goff, Laure, Portefaix, Aurélie, Walther Louvier, Ulrike, Duval, Pierre-André, Caradec, Pascale, Touati, Souad, Zamora Herranz, Alberto, Bollig, Jan, Fanni Molnár, Ù, Vogt, Sibylle, Pechmann, Astrid, Schorling, David, Wider, Sabine, Kölbel, Heike, Schara, Ulrike, Braun, Frederik, Gangfuss, Andrea, Hagenacker, Tim, Eckstein, Anja, Dekowski, Dirk, Oeverhaus, Michael, Stoehr, Mareile, Andres, Barbara, Smuda, Karin, Bertini, Enrico, D'Amico, Adele, Petroni, Sergio, Valente, Paola, Maria Bonetti, Anna, Carlesi, Adelina, Mizzoni, Irene, Pedemonte, Marina, Brolatti, Noemi, Priolo, Enrico, Rao, Giuseppe, Sposetti, Lorenza, Morando, Simone, Comi, Giacomo, Osnaghi, Silvia, Minorini, Valeria

مصطلحات موضوعية: Evrysdi, Pharmacodynamic, Risdiplam, Safety, Spinal muscular atrophy

الوصف: Introduction: Risdiplam is a survival of motor neuron 2 (SMN2) splicing modifier for the treatment of patients with spinal muscular atrophy (SMA). The JEWELFISH study (NCT03032172) was designed to assess the safety, tolerability, pharmacokinetics (PK), and pharmacodynamics (PD) of risdiplam in previously treated pediatric and adult patients with types1–3 SMA. Here, an analysis was performed after all patients had received at least 1year of treatment with risdiplam. Methods: Patients with a confirmed diagnosis of 5q-autosomal recessive SMA between the ages of 6months and 60years were eligible for enrollment. Patients were previously enrolled in the MOONFISH study (NCT02240355) with splicing modifier RG7800 or treated with olesoxime, nusinersen, or onasemnogene abeparvovec. The primary objectives of the JEWELFISH study were to evaluate the safety and tolerability of risdiplam and investigate the PK after 2years of treatment. Results: A total of 174 patients enrolled: MOONFISH study (n = 13), olesoxime (n = 71 patients), nusinersen (n = 76), onasemnogene abeparvovec (n = 14). Most patients (78%) had three SMN2 copies. The median age and weight of patients at enrollment was 14.0years (1–60years) and 39.1kg (9.2–108.9kg), respectively. About 63% of patients aged 2–60years had a baseline total score of less than 10 on the Hammersmith Functional Motor Scale–Expanded and 83% had scoliosis. The most common adverse event (AE) was upper respiratory tract infection and pyrexia (30 patients each; 17%). Pneumonia (four patients; 2%) was the most frequently reported serious AE (SAE). The rates of AEs and SAEs per 100 patient-years were lower in the second 6-month period compared with the first. An increase in SMN protein was observed in blood after risdiplam treatment and was comparable across all ages and body weight quartiles. Conclusions: The safety and PD of risdiplam in patients who were previously treated were consistent with those of treatment-naïve patients.

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000929942600001; volume:12; firstpage:543; lastpage:557; numberofpages:15; journal:NEUROLOGY AND THERAPY; https://hdl.handle.net/11567/1156274Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85148078301

الإتاحة: https://doi.org/10.1007/s40120-023-00444-1Test
https://hdl.handle.net/11567/1156274Test

المؤلفون: Eugenio Mercuri, Nicolas Deconinck, Elena S Mazzone, Andres Nascimento, Maryam Oskoui, Kayoko Saito, Carole Vuillerot, Giovanni Baranello, Odile Boespflug-Tanguy, Nathalie Goemans, Janbernd Kirschner, Anna Kostera-Pruszczyk, Laurent Servais, Marianne Gerber, Ksenija Gorni, Omar Khwaja, Heidemarie Kletzl, Renata S Scalco, Hannah Staunton, Wai Yin Yeung, Carmen Martin, Paulo Fontoura, John W Day, Joseph J. Volpe, John Posner, Ulrich Kellner, Rosaline Quinlivan, Aurore Daron, Stéphanie Delstanche, Romain Bruninx, Fabian Dal Farra, Olivier Schneider, Irina Balikova, Patricia Delbeke, Inge Joniau, Valentine Tahon, Sylvia Wittevrongel, Elke De Vos, Ingele Casteels, Liesbeth De Waele, Catherine Cassiman, Lies Prové, David Kinoo, Lisa Vancampenhout, Marleen Van Den Hauwe, Annelies Van Impe, Alexandra Prufer de Queiroz Campos Araujo, Aline Chacon Pereira, Flávia Nardes, Lorena Haefeli, Julia Rossetto, Marcos Ferreira Rebel, Jaqueline Almeida Pereira, Craig Campbell, Sapna Sharan, Wendy McDonald, Cheryl Scholtes, Jean Mah, Maria Sframeli, Angela Chiu, Jane Hagel, Raquel Beneish, Gaela Cariou-Palmer, Connie Pham, Daniela Toffoli, Stephanie Arpin, Sarah Turgeon Desilets, Yi Wang, Chaoping Hu, Jianfeng Huan, Chen Qian, Li Shen, Ying Xiao, Zhenxuan Zhou, Hui Li, Sujuan Wang, Hui Xiong, Xingzhi Chang, Hui Dong, Ying Liu, Tian Sang, Cuijie Wei, Jing Wen, Yiwen Cao, Xingyao Ly, Jingjing Zhao, Wenzhu Li, Lun Qin, Nina Barisic, Martina Galiot Delic, Petra Kristina Ivkic, Nenad Vukojevic, Ivana Kern, Boris Najdanovic, Marin Skugor, Teresa Gidaro, Andreea Seferian, Silvana De Lucia, Emmanuel Barreau, Nabila Mnafek, Marta Milkova Momtchilova, Helene Peche, Carole Valherie, Allison Grange, Charlotte Lilien, Darko Milascevic, Shotaro Tachibana, Claudia Ravelli, Ruxandra Cardas, Jessica Taytard, Guillaume Aubertin, Laure Vanden Brande, Jean-Baptiste Davion, Stephanie Coopman, Ikram Bouacha, Philippe Debruyne, Sabine Defoort, Gilles Derlyn, Florian Leroy, Loïc Danjoux, Julie Guilbaud, Isabelle Desguerre, Christine Barnérias, Michaela Semeraro, Dominique Bremond-Gignac, Lenaic Bruere, Maxence Rateaux, Élodie Deladrière, Virginie Germa, Yann Pereon, Sandra Mercie, Fanny Billaud, Lucie Le Goff, Guy Letellier, Aurélie Portefaix, Camille De-Montferrand, Laure Le-Goff, Stephanie Fontaine, Manel Saidi, Nabil Bouzid, Aurélie Barriere, Marie Tinat, Michelle Dreesbach, Wolf Lagréze, Bettina Michaelis, Fanni Molnar, Dorina Seger, Sibylle Vogt, Enrico Bertini, Adele D'Amico, Sergio Petroni, Anna Maria Bonetti, Adelina Carlesi, Irene Mizzoni, Claudio Bruno, Enrico Priolo, Giuseppe Rao, Simone Morando, Paola Tacchetti, Ambra Zuffi, Giacomo Pietro Comi, Roberta Brusa, Stefania Corti, Velardo Daniele, Alessandra Govoni, Francesca Magri, Valeria Minorini, Silvia Gabriella Osnaghi, Francesca Abbati, Federica Fassini, Michaela Foa, Amaqlia Lopopolo, Megi Meneri, Francesca Zoppas, Valeria Parente, Riccardo Masson, Stefania Bianchi Marzoli, Diletta Santarsiero, Myriam Garcia Sierra, Gemma Tremolada, Maria Teresa Arnoldi, Marta Vigano, Riccardo Zanin, Laura Antonaci, Roberto de Sanctis, Marika Pane, Maria Carmela Pera, Giulia Maria Amorelli, Costanza Barresi, Gugliemo D'Amico, Lorenzo Orazi, Giorgia Coratti, Kazuhiro Haginoya, Atsuko Kato, Yuko Morishita, Ryutaro Kira, Kiyomu Akiyama, Miwako Goto, Yujiro Mori, Misato Okamoto, Saki Tsutsui, Yuta Takatsuji, Aya Tanaka, Hirofumi Komaki, Miina Omori, Ippei Suzuki, Mizuki Takeuchi, Daisuke Todoroki, Seji Watanabe, Tomoko Matsubayashi, Emi Inakazu, Hiroe Nagura, Akira Suzuki, Manami Usui, Nobutsune Ishikawa, Yousuke Harada, Kenishi Fudeyasu, Kazuhiko Hirata, Kana Michiue, Kazuyuki Ueda, Junko Fujitani, Reiko Arakawa, Kozue Takano, Shigeko Yashiro, Maiko Seki, Nozomi Sano, Koji Fukuyama, Yuki Matsumoto, Hirofumi Miyazaki, Minoru Shibata, Kyoko Kobayashi, Yukie Nakamura, Yasuhiro Takeshima, Moe Kuma, Anna Fraczek, Maria Jedrzejowska, Anna Lusakowska, Agnieszka Czeszyk-Piotrowicz, Wojciech Hautz, Klaudia Rakusiewicz, Malgorzata Burlewicz, Zuzanna Gierlak-Wojcicka, Malwina Kepa, Adam Sikorski, Marcin Sobieraj, Maria Mazurkiewicz-Beldzinska, Anna Lemska, Sandra Modrzejewska, Mateusz Koberda, Urszula Stodolska-Koberda, Agnieszka Waskowska, Jagoda Kolendo, Agnieszka Sobierajska-Rek, Barbara Steinborn, Magdalena Dalz, Julia Grabowska, Wojciech Hajduk, Justyna Janasiewicz-Karachitos, Monika Klimas, Marcin Stopa, Ewa Gajewska, Beata Pusz, Dmitry Vlodavets, Evgenia Melnik, Natalya Leppenen, Nataliya Yupatova, Anastasya Monakhova, Yulia Papina, Olga Shidlovsckaia, Vedrana Milic Rasic, Vesna Brankovic, Ana Kosac, Olivera Djokic, Vesna Jakšic, Ana Pepic, Jelena Martinovic, Francina Munell Casadesus, Eduardo Tizzano, Nieves Martín Begué, Charlotte Wolley Dod, Olaia Subira, Bernat Planas Pascual, Esther Toro Tamargo, Marcos Madruga Garrido, José David Medina Romero, Marta Peña Salinas, Andrés Nascimento Osorio, Ana Díaz Cortés, Enrique Jiménez Gañan, Simone Dowon Suh, Julita Medina Cantillo, Obdulia Moya, Nuria Padros, Sandra Roca Urraca, Hugo Gonzalez Valdivia, Samuel Pascual Pascual, Sofía de Manuel, Susana Noval Martin, Paul Burnham, Sandra Espinosa, Mercedes Martinez Moreno, Haluk Topaloglu, Ibrahim Oncel, Nesibe Eroglu Ertugru, Bahadir Konuskan, Bora Eldem, Sibel Kadayifçilar, Ipek Alemdaroglu, Aynur Ayse Karaduman, Oznur Tunca Yilmaz, Neslihan Bilgin, Seher Sari, Claudia Chiriboga, John J. Lee, Donnielle Rome-Martin, John W. Day, Shannon Beres, Tina Duong, Richard Gee, Sally Dunaway Young, Sabine Fuerst-Recktenwald, Anne Marquet, Nicoletta Muelhardt, Dylan Trundell

المصدر: LANCET NEUROLOGY
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
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مصطلحات موضوعية: Adult, Risdiplam, spinal muscular atrophy, Adolescent, Spinal Muscular Atrophies of Childhood, Settore MED/26 - NEUROLOGIA, Young Adult, Pyrimidines, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Double-Blind Method, Child, Preschool, Humans, Neurology (clinical), Child, Preschool, Azo Compounds, Aged

الوصف: BACKGROUND: Risdiplam is an oral small molecule approved for the treatment of patients with spinal muscular atrophy, with approval for use in patients with type 2 and type 3 spinal muscular atrophy granted on the basis of unpublished data. The drug modifies pre-mRNA splicing of the SMN2 gene to increase production of functional SMN. We aimed to investigate the safety and efficacy of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy. METHODS: In this phase 3, randomised, double-blind, placebo-controlled study, patients aged 2-25 years with confirmed 5q autosomal recessive type 2 or type 3 spinal muscular atrophy were recruited from 42 hospitals in 14 countries across Europe, North America, South America, and Asia. Participants were eligible if they were non-ambulant, could sit independently, and had a score of at least 2 in entry item A of the Revised Upper Limb Module. Patients were stratified by age and randomly assigned (2:1) to receive either daily oral risdiplam, at a dose of 5·00 mg (for individuals weighing =20 kg) or 0·25 mg/kg (for individuals weighing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::917024073c62a8e3c3c8eedaa6f463bbTest
https://doi.org/10.1016/s1474-4422Test(21)00367-7

المؤلفون: Chiara Fiorillo, Giovanna Capodivento, Alessandro Geroldi, Stefano Tozza, Isabella Moroni, Payam Mohassel, Matteo Cataldi, Chiara Campana, Simone Morando, Chiara Panicucci, Marina Pedemonte, Noemi Brolatti, Sabrina Siliquini, Monica Traverso, Serena Baratto, Doriana Debellis, Stefania Magri, Valeria Prada, Emilia Bellone, Vincenzo Salpietro, Sandra Donkervoort, Kenneth Gable, Sita D. Gupta, Teresa M. Dunn, Carsten G. Bönnemann, Franco Taroni, Claudio Bruno, Angelo Schenone, Paola Mandich, Lucilla Nobbio, Maria Nolano

المصدر: Neuropathology and Applied Neurobiology. 48

مصطلحات موضوعية: l-serine, Sphingolipids, Histology, SPTLC1, Serine C-Palmitoyltransferase, Peripheral Nervous System Diseases, Pathology and Forensic Medicine, HSAN, Neurology, Physiology (medical), Mutation, Serine, Humans, S331, motor neuron, sphingolipids, Neurology (clinical), Hereditary Sensory and Autonomic Neuropathies, Motor Neuron Disease

الوصف: SPTLC1-related disorder is a late onset sensory-autonomic neuropathy associated with perturbed sphingolipid homeostasis which can be improved by supplementation with the serine palmitoyl-CoA transferase (SPT) substrate, l-serine. Recently, a juvenile form of motor neuron disease has been linked to SPTLC1 variants. Variants affecting the p.S331 residue of SPTLC1 cause a distinct phenotype, whose pathogenic basis has not been established. This study aims to define the neuropathological and biochemical consequences of the SPTLC1 p.S331 variant, and test response to l-serine in this specific genotype.We report clinical and neurophysiological characterisation of two unrelated children carrying distinct p.S331 SPTLC1 variants. The neuropathology was investigated by analysis of sural nerve and skin innervation. To clarify the biochemical consequences of the p.S331 variant, we performed sphingolipidomic profiling of serum and skin fibroblasts. We also tested the effect of l-serine supplementation in skin fibroblasts of patients with p.S331 mutations.In both patients, we recognised an early onset phenotype with prevalent progressive motor neuron disease. Neuropathology showed severe damage to the sensory and autonomic systems. Sphingolipidomic analysis showed the coexistence of neurotoxic deoxy-sphingolipids with an excess of canonical products of the SPT enzyme. l-serine supplementation in patient fibroblasts reduced production of toxic 1-deoxysphingolipids but further increased the overproduction of sphingolipids.Our findings suggest that p.S331 SPTLC1 variants lead to an overlap phenotype combining features of sensory and motor neuropathies, thus proposing a continuum in the spectrum of SPTLC1-related disorders. l-serine supplementation in these patients may be detrimental.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c0adef0de11c681ceab6cde003990b7Test
https://doi.org/10.1111/nan.12842Test

المؤلفون: Sonia Messina, Maria Sframeli, Jacqueline Montes, Simone Morando, John W. Day, Valeria A. Sansone, Matthew Civitello, Laura Antonaci, William B. Martens, Allan M. Glanzman, Enrico Bertini, Annemarie Rohwer, Marika Pane, Eugenio Mercuri, Adele D'Amico, Irene Mizzoni, Claudio Bruno, Katia Patanella, Roberto De Sanctis, Francesco Muntoni, Darryl C. De Vivo, Anna Lia Frongia, Francesca Bovis, Tina Duong, Maria Carmela Pera, Amy Pasternak, Giorgia Coratti, Francesca Salmin, Richard S. Finkel, Mariacristina Scoto, Basil T. Darras, Sally Dunaway Young

المصدر: Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, Vol 8, Iss 8, Pp 1622-1634 (2021)

مصطلحات موضوعية: 0301 basic medicine, Male, Outcome Assessment, Oligonucleotides, Spinal Muscular Atrophies of Childhood, Severity of Illness Index, 0302 clinical medicine, Outcome Assessment, Health Care, Medicine, Adolescent, Adult, Aged, Child, Child, Preschool, Female, Humans, Longitudinal Studies, Middle Aged, Young Adult, Registries, Research Articles, media_common, Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, General Neuroscience, nusinersen, SMA, medicine.anatomical_structure, Cohort, Upper limb, Nusinersen, RC321-571, Research Article, medicine.medical_specialty, media_common.quotation_subject, Neurosciences. Biological psychiatry. Neuropsychiatry, 03 medical and health sciences, Text mining, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Internal medicine, Preschool, RC346-429, Selection bias, Adult patients, business.industry, Spinal muscular atrophy, medicine.disease, Health Care, 030104 developmental biology, Neurology (clinical), Neurology. Diseases of the nervous system, business, 030217 neurology & neurosurgery

الوصف: Objective We report longitudinal data from 144 type III SMA pediatric and adult patients treated with nusinersen as part of an international effort. Methods Patients were assessed using Hammersmith Functional Motor Scale Expanded (HFMSE), Revised Upper Limb Module (RULM), and 6‐Minute Walk Test (6MWT) with a mean follow‐up of 1.83 years after nusinersen treatment. Results Over 75% of the 144 patients had a 12‐month follow‐up. There was an increase in the mean scores from baseline to 12 months on both HFMSE (1.18 points, p = 0.004) and RULM scores (0.58 points, p = 0.014) but not on the 6MWT (mean difference = 6.65 m, p = 0.33). When the 12‐month HFMSE changes in the treated cohort were compared to an external cohort of untreated patients, in all untreated patients older than 7 years, the mean changes were always negative, while always positive in the treated ones. To reduce a selection bias, we also used a multivariable analysis. On the HFMSE scale, age, gender, baseline value, and functional status contributed significantly to the changes, while the number of SMN2 copies did not contribute. The effect of these variables was less obvious on the RULM and 6MWT. Interpretation Our results expand the available data on the effect of Nusinersen on type III patients, so far mostly limited to data from adult type III patients.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce733bf025ec593e1d29dfd1172ba332Test
http://europepmc.org/articles/PMC8351459Test

المؤلفون: Coratti, Giorgia, Lenkowicz, Jacopo, Norcia, Giulia, Lucibello, Simona, Ferraroli, Elisabetta, D'Amico, Adele, Bello, Luca, Pegoraro, Elena, Messina, Sonia, Ricci, Federica, Mongini, Tiziana, Berardinelli, Angela, Masson, Riccardo, Previtali, Stefano C, D'Angelo, Grazia, Magri, Francesca, Comi, Giacomo P, Politano, Luisa, Passamano, Luigia, Vita, Gianluca, Sansone, Valeria A, Albamonte, Emilio, Panicucci, Chiara, Bruno, Claudio, Pini, Antonella, Bertini, Enrico Silvio, Patarnello, Stefano, Pane, Marika, Mercuri, Eugenio Maria, Fanelli, Lavinia, Nicola, Forcina, Giulia, Stanca, Sara, Carnicella, De Sanctis, Roberto, Brogna, Claudia, Cutrona, Costanza, Anna Lia Frongia, Pera, Maria Carmela, Laura, Antonaci, Gloria, Ferrantini, Beatrice, Berti, Daniela, Leone, Concetta, Palermo, Melania, Giannotta, Giulia, Colia, Adelina, Carlesi, Giacomo De Luca, Irene, Mizzoni, Annamaria, Bonetti, Michela, Catteruccia, Vincenzo Di Bella, Maria, Sframeli, Massimo, Russo, Enrica, Rolle, Alice, Gardani, Stefano, Parravicini, Riccardo, Zanin, Maria Teresa Arnoldi, Claudia, Dosi, Ilaria, Pedrinelli, Giovanni, Baranello, Emilio, Albamonte, Francesca, Salmin, Simone, Morando

مصطلحات موضوعية: Male, Multidisciplinary, Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, Settore ING-INF/05 - SISTEMI DI ELABORAZIONE DELLE INFORMAZIONI, Duchenne, Dystrophin, Muscular Dystrophy, Duchenne, Settore MED/26 - NEUROLOGIA, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Adrenal Cortex Hormones, Child, Preschool, Mutation, Humans, Protein Isoforms, Muscular Dystrophy, Child, Preschool

الوصف: The aim of this study was to establish the possible effect of age, corticosteroid treatment and brain dystrophin involvement on motor function in young boys affected by Duchenne Muscular Dystrophy who were assessed using the North Star Ambulatory Assessment between the age of 4 and 7 years. The study includes 951 North Star assessments from 226 patients. Patients were subdivided according to age, to the site of mutation and therefore to the involvement of different brain dystrophin isoforms and to corticosteroids duration. There was a difference in the maximum North Star score achieved among patients with different brain dystrophin isoforms (p = 0.007). Patients with the involvement of Dp427, Dp140 and Dp71, had lower maximum NSAA scores when compared to those with involvement of Dp427 and Dp140 or of Dp427 only. The difference in the age when the maximum score was achieved in the different subgroups did not reach statistical significance. Using a linear regression model on all assessments we found that each of the three variables, age, site of mutation and corticosteroid treatment had an influence on the NSAA values and their progression over time. A second analysis, looking at 12-month changes showed that within this time interval the magnitude of changes was related to corticosteroid treatment but not to site of mutation. Our findings suggest that each of the considered variables appear to play a role in the progression of North Star scores in patients between the age of 4 and 7 years and that these should be carefully considered in the trial design of boys in this age range.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2aa9c49feef49586c4f2f72799b6b529Test
http://hdl.handle.net/10807/213688Test