Results 41 to 50 of about 1,718 (175)

Paradoxical increase of neurofilaments in SMA patients treated with onasemnogene abeparvovec-xioi

Frontiers in Neurology, 2023
Background/ObjectiveNeurofilament light chain (NfL) has been proposed as a biomarker reflecting disease severity and therapy response in children with spinal muscular atrophy type 1 and 2 (SMA1 and 2). The objective of this study was to examine how serum
Marina Flotats-Bastardas, Lisa Bitzan, Charlotte Grell, Kyriakos Martakis, Kyriakos Martakis, Benedikt Winter, Michael Zemlin, Claudia D. Wurster, Zeljko Uzelac, Claudia Weiß, Andreas Hahn   +10 more
doaj   +1 more source

185 JEWELFISH: Safety, pharmacodynamic and exploratory efficacy data in non-naïve patients with SMA receiving risdiplam

, 2022
Risdiplam (EVRYSDI®) is an oral survival of motor neuron 2 (SMN2) pre-mRNA splicing modifier approved by the EMA and MHRA for the treatment of patients aged ≥2 months, with a clinical diagnosis of Type 1, 2 or 3 spinal muscular atrophy (SMA) or 1–4 SMN2 ...
Claudio Bruno, Fischer, Dirk, Imogen Carruthers, Francis Warren, Bruno, Claudio, Chiriboga, Claudia A., Heidemarie Kletzl, Marianne Gerber, Warren, Francis, Mercuri, Eugenio, Claudia Chiriboga, Janbernd Kirschner, Kletzl, Heidemarie, null null, Dirk Fischer, Mariacristina Scoto, Eugenio Mercuri, Kirschner, Janbernd, Scoto, Mariacristina, Carruthers, Imogen, Gerber, Marianne   +20 more
core   +1 more source

2020 Update to Spinal Muscular Atrophy Management in Saudi Arabia

Frontiers in Pediatrics, 2021
Novel therapeutic strategies have shown some promise in treating spinal muscular atrophy (SMA). However, the outcomes and acceptance of these new strategies are yet to be explored.
Fahad A. Bashiri, Fahad A. Bashiri, Mohamad-Hani Temsah, Mohamad-Hani Temsah, Khalid Hundallah, Fahad Alsohime, Fahad Alsohime, Yazed AlRuthia, Yazed AlRuthia   +8 more
doaj   +1 more source

Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito, Kamal Benguerba, Ken Tsuchida, Kazushige Yazawa, Isao Tsumiyama, Hiromitsu Kayama, Sandra P. Reyna, Farid Khan, Richard S. Finkel   +8 more
wiley   +1 more source

Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial

, 2022
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.
Dalz M., Kellner U., Morishita Y., Ferreira Rebel M., Ohashi M., Planas Pascual B., Rome-Martin D., Prufer de Queiroz Campos Araujo A., Steinborn B., Toro Tamargo E., Wang Y., Comi G. P., D'Amico G., Govoni A., Li H., Posner J., Dal Farra F., McDonald W., Cao Y., Sang T., Omori M., Kletzl H., Padros N., Kostera-Pruszczyk A., Gajewska E., Rossetto J., Martinez Moreno M., Tinat M., Tunca Yilmaz O., Barresi C., Haginoya K., Akiyama K., Moya O., Dong H., Liu Y., Kosac A., Hu C., Wen J., Lilien C., Semeraro M., Lusakowska A., Koberda M., Zhao J., Harada Y., Abbati F., Saidi M., Rakusiewicz K., Tsutsui S., Fontoura P., Mazurkiewicz-Beldzinska M., Li W., Diaz Cortes A., Derlyn G., Bilgin N., Watanabe S., Dreesbach M., Osaka H., Gonzalez Valdivia H., Seferian A., Nascimento A., Bruno C., Modrzejewska S., Tremolada G., Morando S., Pascual Pascual S., Hajduk W., Garcia Sierra M., Mercuri E., Suzuki I., Qian C., Kern I., Leppenen N., Xiao Y., De-Montferrand C., Zoppas F., De Lucia S., Arnoldi M. T., Tachibana S., Melnik E., Daron A., Goemans N., Joniau I., Orazi L., Defoort S., Desguerre I., Almeida Pereira J., Bremond-Gignac D., Sikorski A., Skugor M., Kinoo D., Lopopolo A., Xiong H., Munell Casadesus F., Wittevrongel S., Nascimento Osorio A., Casteels I., Bouacha I., Santarsiero D., Chang X., Bruere L., Roca Urraca S., Tizzano E., Pereon Y., Martin C., Salinas M. P., Van Den Hauwe M., Bianchi Marzoli S., Oskoui M., Mercie S., Gerber M., Peche H., Khwaja O., Lee J., Chiriboga C., Stodolska-Koberda U., Czeszyk-Piotrowicz A., Burlewicz M., Servais L., Waskowska A., Fontaine S., Kane S., Qin L., Zuffi A., Okamoto M., Fraczek A., Huang J., Quinlivan R., Fuerst-Recktenwald S., Kirschner J., Scholtes C., Minorini V., Alemdaroglu I., Volpe J. J., Leroy F., Jedrzejowska M., D'Amico A., Debruyne P., Stopa M., Vanden Brande L., Lagreze W., Sano N., Noval Martin S., Danjoux L., Magot A., Staunton H., Dunaway Young S., Romain B., Michaelis B., Deladriere E., Goto M., Medina Cantillo J., Petroni S., Mazzone E. S., Nagura H., Beres S., Le-Goff L., Brusa R., Kepa M., Uemura A., Madruga Garrido M., Prove L., Sframeli M., Corti S., Pepic A., Yeung W. Y., Van Impe A., Lemska A., Kuma M., Kolendo J., Djokic O., Germa V., Shibata M., Mnafek N., Suh S. D., Vlodavets D., Grange A., Ravelli C., Rateaux M., Ishikawa N., Kadayifcilar S., Portefaix A., Sobierajska-Rek A., Marquet A., Momtchilova M. M., Molnar F., Galiot Delic M., Saito K., Papina Y., Nardes F., Shidlovsckaia O., Le Goff L., Campbell C., Milascevic D., Coratti G., Matsubayashi T., Jaksic V., Haefeli L., Yashiro S., Shen L., Gidaro T., Tahon V., Miyazaki H., Gierlak-Wojcicka Z., Martin Begue N., Oncel I., Seki M., Zanin R., Milic Rasic V., Hautz W., Janasiewicz-Karachitos J., Eroglu Ertugrul N., Konuskan B., Balikova I., Gee R., Pham C., Wang S., Sobieraj M., Tanaka A., Barnerias C., Carlesi A., Wei C., Lv X., Cardas R., Daniele V., Boespflug-Tanguy O., Todoroki D., Ueda K., Yupatova N., Osnaghi S. G., Barriere A., Mah J., Subira O., Matsumoto Y., Scalco R. S., Suzuki A., Eldem B., Najdanovic B., Komaki H., Fudeyasu K., Medina Romero J. D., Masson R., Espinosa Garcia S., Brankovic V., Valherie C., Sharan S., Turgeon Desilets S., Rao G., Gorni K., Kato A., Bouzid N., Bertini E., Hagel J., Day J. W., Fassini F., Trundell D., Coopman S., Topaloglu H., Pusz B., Martinovic J., Wolley Dod C., Chiu A., Fukuyama K., Ayse Karaduman A., De Waele L., Mizzoni I., Vigano M., Duong T., Foa M., Vogt S., Takatsuji Y., Sari S., Delbeke P., Zhou Z., Billaud F., Schneider O., Chacon Pereira A., Parente V., Baranello G., Barreau E., Delstanche S., Nakamura Y., Vancampenhout L., Takeuchi M., Meneri M., De Vos E., Bonetti A. M., de Manuel S., Davion J. -B., Letellier G., Cassiman C., Takeshima Y., Ivkic P. K., Vukojevic N., Priolo E., Mori Y., Inakazu E., Kobayashi K., Jimenez Ganan E., Barisic N., Beneish R., Magri F., Klimas M., Vuillerot C., Hirata K., Guilbaud J., Burnham P., Deconinck N., Mulhardt N., Seger D., Monakhova A., Grabowska J., Tacchetti P., Amorelli G. M., Michiue K., Arpin S., Kira R., Toffoli D.   +316 more
core   +3 more sources

The Dynamics of Neurofilament Light Chain in Spinal Muscular Atrophy

Annals of Neurology, EarlyView.
Objective Newborn screening (NBS) for spinal muscular atrophy (SMA) facilitates early diagnosis and treatment for affected individuals. However, fluid biomarkers that provide early insights into disease activity and outcomes in a neonatal cohort and those unable to access (due to reimbursement criteria) or deferring immediate treatment are lacking ...
Arlene D'Silva, Karen Herbert, Lakshmi Balaji, Jia Mei He, Tejaswi Kandula, Hugo A. Sampaio, Hooi‐Ling Teoh, Esther Tantsis, Jihee Sohn, Nancy Briggs, Nickson Ning, Matthew C. Kiernan, Didu S. Kariyawasam, Michelle A. Farrar   +13 more
wiley   +1 more source

Switching disease‐modifying therapies in patients with spinal muscular atrophy: A systematic review on effectiveness outcomes

British Journal of Clinical Pharmacology, EarlyView.
With multiple disease‐modifying therapies now available, treatment switching has become an important clinical consideration in the management of spinal muscular atrophy (SMA). While some switches are prompted by suboptimal clinical response, more commonly they are driven by treatment burden, convenience, or adverse events.
Andrej Belančić, Elvira Meni Maria Gkrinia, Patrick Eustaquio, Andrea Katrin Faour, Dinko Vitezić   +4 more
wiley   +1 more source

Exploration of adverse events associated with risdiplam use: Retrospective cases from the US Food and Drug Administration Adverse Event Reporting System (FAERS) database.

PLoS ONE
Risdiplam is a new drug for treating spinal muscular atrophy (SMA). However, pharmacovigilance analyses are necessary to objectively evaluate its safety-a crucial step in preventing severe adverse events (AEs).
Lurong Yu, Limei Liu
doaj   +1 more source

Early‐stage health technology assessment of a curative gene therapy for multiple sclerosis

British Journal of Clinical Pharmacology, EarlyView.
Aims Multiple sclerosis (MS) is associated with significant early morbidity, reduced life expectancy and substantial healthcare and societal costs. The primary objective of this study is to assess the early cost‐effectiveness potential of a novel gene therapy, IMMUTOL, for MS compared with current high‐efficacy treatment sequences.
Attila Imre, Balázs Nagy, Rok Hren
wiley   +1 more source

Clinical Characterization of Patients With 5q Spinal Muscular Atrophy Types 2 and 3 in Brazil: A Cross‐Sectional Observational Study

Clinical Genetics, EarlyView.
This study describes the clinical heterogeneity of Brazilian patients with 5q spinal muscular atrophy types 2 and 3, highlighting prolonged diagnostic delays and the impact of disease duration on motor function. Early genetic diagnosis and access to multidisciplinary care are crucial to preserve functional outcomes.
Elice Carneiro Batista, Edmar Zanoteli, Henrique Andrade R. Fonseca, Graziela Jorge Polido, Jonas Alex Morales Saute, Adriana Banzzatto Ortega, Marcondes Cavalcante França Junior, Acary Souza Bulle Oliveira, Paulo Victor Sgobbi de Souza, Juliana Gurgel Giannetti, André Luiz Santos Pessoa, Alexandra Prufer de Queiroz Campos Araújo, Mário Fritsch Toros Neves, Raquel Tavares Boy da Silva, Frederico Monfardini, Gustavo Prado dos Santos, Bruna dos Santos Sampaio, Diogo Fagundes Moia, Fernando Galan Júnior, Luciana Pereira Almeida de Piano, Camila Santos Nascimento de Albuquerque, Flávia Miranda Duarte, Viviane Aparecida Rodrigues Sant’Anna, Mariane Pereira, Jomenica de Bortoli Livramento, Ronaldo Vicente Pereira Soares, Denison Alves Pedrosa, Vanessa Teich, Luiz Vicente Rizzo, Otávio Berwanger, João Brainer Clares de Andrade, Gisele Sampaio Silva   +31 more
wiley   +1 more source