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Anne Marquet
Researcher at Hoffmann-La Roche
Publications - 7
Citations - 457
Anne Marquet is an academic researcher from Hoffmann-La Roche. The author has contributed to research in topics: Spinal muscular atrophy & SMA*. The author has an hindex of 5, co-authored 6 publications receiving 240 citations.
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Journal ArticleDOI
Discovery of Risdiplam, a Selective Survival of Motor Neuron-2 (SMN2) Gene Splicing Modifier for the Treatment of Spinal Muscular Atrophy (SMA)
Hasane Ratni,Martin Ebeling,John D. Baird,Stefanie Bendels,Johan Bylund,Karen S. Chen,Nora Denk,Zhihua Feng,Luke Green,Melanie Guérard,Philippe Jablonski,Bjoern Jacobsen,Omar Khwaja,Heidemarie Kletzl,Chien-Ping Ko,Stefan Kustermann,Anne Marquet,Friedrich Metzger,Barbara Mueller,Nikolai Naryshkin,Sergey Paushkin,Emmanuel Pinard,Agnès Poirier,Michael Reutlinger,Marla Weetall,Andreas Zeller,Xin Zhao,Lutz Mueller +27 more
TL;DR: The discovery of 1 (risdiplam, RG7916, RO7034067) that focused on thorough pharmacology, DMPK and safety characterization and optimization is described, which is a promising medicine for the treatment of patients in all ages and stages with SMA.
Journal ArticleDOI
A phase 1 healthy male volunteer single escalating dose study of the pharmacokinetics and pharmacodynamics of risdiplam (RG7916, RO7034067), a SMN2 splicing modifier.
Stefan Sturm,Andreas Günther,Birgit Jaber,Paul Jordan,Nada Al Kotbi,Nikhat Parkar,Yumi Cleary,Nicolas Frances,Tobias Bergauer,Katja Heinig,Heidemarie Kletzl,Anne Marquet,Hasane Ratni,Agnès Poirier,Lutz Müller,Christian Czech,Omar Khwaja +16 more
TL;DR: The objectives of this entry‐into‐human study were to assess the safety, tolerability, pharmacokinetics (PK) and pharmacodynamics of risdiplam, and the effect of the strong CYP3A inhibitor itraconazole on the PK of ris diplam in healthy male volunteers.
Journal ArticleDOI
Longitudinal characterization of biomarkers for spinal muscular atrophy.
Ulrike Bonati,Ulrike Bonati,Stefan Holiga,Stefan Holiga,Nicole Hellbach,Celine Risterucci,Tobias Bergauer,Wakana Tang,Patricia Hafner,Patricia Hafner,Alain Thoeni,Oliver Bieri,Irene Gerlach,Anne Marquet,Omar Khwaja,Fabio Sambataro,Alessandro Bertolino,Juergen Dukart,Arne Fischmann,Dirk Fischer,Dirk Fischer,Christian Czech +21 more
TL;DR: A wide range of measures were observed over 1 year to assess their ability to monitor the disease status and progression in Spinal Muscular Atrophy.
Journal ArticleDOI
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
Eugenio Mercuri,Nicolas Deconinck,Elena S. Mazzone,Andrés 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,W. Yeung,Carmen Martin,Paulo Fontoura,John W. Daly,Joseph J. Volpe,J Posner,U. Kellner,Ros Quinlivan,Sabine Fuerst-Recktenwald,Anne Marquet,Nicoletta Mülhardt,Dylan Trundell,A. Daron,Stéphanie Delstanche,Bruninx Romain,Fabian Dal Farra,Olivier Schneider,Irina Balikova,Patricia Delbeke,I. Joniau,V. Tahon,S. Wittevrongel,E. Vos,Ingele Casteels,Liesbeth De Waele,Catherine Cassiman,L. Prové,David Kinoo,Lisa Vancampenhout,Marleen Van den Hauwe,A. Van Impe,Alexandra Prufer de Queiroz Campos Araújo,Aline Chacon Pereira,Flávia Nardes,Lorena Haefeli,Julia D. Rossetto,Jaqueline Almeida Pereira,Marcos Ferreira Rebel,Craig Campbell,Sapna Sharan,Wendy McDonald,Cheryl Scholtes,Jeannie Mah,Maria Sframeli,Angela Chiu,J Hagel,Raquel Beneish,Connie Pham,Daniel Toffoli,Stéphanie Arpin,Sarah Turgeon Desilets,Yi Wang,Chaoping Hu,Jianfeng Huang,Cheng Qian,Li Shen,Ying Xiao,Zhen Zhou,Hui Li,Sujuan Wang,Hui Xing,Xingzhi Chang,Hong Dong,Ying Liu,Tian Sang,Cuijie Wei,Jing Wen,Yiwen Cao,Xi Lu Lv,Jingjing Zhao,Wen-zhong Li,Lun Qin,Nina Barišić,Martina Galiot Delic,Petra Kristina Ivkić,Nenad Vukojević,Ivana Kern,Boris Najdanovic,Marin Skugor,Teresa Gidaro,Andreea Mihaela Seferian,Silvana de Lucia,Emmanuel Barreau,Nabila Mnafek,M Momtchilova,Hélène Pêche,Carole Valherie,Allison Grange,C. Lilien,Darko Milaščević,Shotaro Tachibana,Claudia Ravelli,Ruxandra Cardas,Laure Vanden Brande,Jean-Baptiste Davion,Stéphanie Coopman,Ikram Bouacha,Philippe Debruyne,Sabine Defoort,Gilles Derlyn,Florian Leroy,Loïc Danjoux,Julie Guilbaud,Isabelle Desguerre,Christine Barnerias,Michaela Semeraro,Dominique Bremond-Gignac,Lenaïc Bruère,Maxence Rateaux,Elodie Deladriere,Virginie Germa,Yann Péréon,Armelle Magot,Sandra Mercie,Fanny Billaud,Lucie Le Goff,Guy Letellier,A Portefaix,S. Fontaine,C. De-Montferrand,L. Le Goff,Manel Saidi,N. Bouzid,Aurélie Barriere,M Khoush Tinat,Michelle Dreesbach,Wolf A. Lagrèze,Bettina Michaelis,Fanni E Molnár,D. K. Seger,Sibylle Vogt,Enrico Bertini,Adele D'Amico,Sergio Petroni,Anna Maria Bonetti,Adelina Carlesi,Irene Mizzoni,Claudio Bruno,Enrico Priolo,Giuseppe Rao,S. Morando,Paola Tacchetti,Ambra Zuffi,Giacomo P. Comi,Roberta Brusa,Stefania Corti,Velardo Daniele,Alessandra Govoni,Francesca Magri,Valeria Minorini,Silvia Osnaghi,Francesca Abbati,F.D. Fassini,Michaela Foa,Amaqlia Lopopolo,Megi Meneri,Francesca Zoppas,Valeria Parente,Riccardo Masson,Stefania Bianchi Marzoli,Diletta Santarsiero,Myriam Sierra,Gemma Tremolada,Mariangela Arnoldi,Marta Vigano,Riccardo Zanin,G. M. Amorelli,Costanza Barresi,Gugliemo D'Amico,Lorenzo Orazi,Giorgia Coratti,Kazuhiro Haginoya,Atsuko Kato,Yuko Morishita,Ryutaro Kira,K. Akiyama,Miwako Goto,Yuji Mori,Misato Okamoto,Sakiko Tsutsui,Yuta Takatsuji,Aya Tanaka,Hirofumi Komaki,Ippei Suzuki,Mizuki Takeuchi,Daisuke Todoroki,S. Watanabe,Miina Omori,Tomoko Matsubayashi,Emi Inakazu,Hiroe Nagura,Akira Suzuki,Hitoshi Osaka,Manami Ohashi,Nobutsune Ishikawa,Yousuke Harada,Kenichi Fudeyasu,Kazuhiko Hirata,Kana Michiue,Kazuyuki Ueda,Shigeko Yashiro,Maiko Seki,Nozomi Sano,Akinori Uemura,Koji Fukuyama,Yuki Matsumoto,Hirofumi Miyazaki,Minoru Shibata,Kyoko Kobayashi,Yukie Nakamura,Yasuhiro Takeshima,M. Kuma,Anna Frączek,Maria Jędrzejowska,Anna Lusakowska,Agnieszka Czeszyk-Piotrowicz,Wojciech Hautz,Klaudia Rakusiewicz,Malgorzata Burlewicz,Zuzanna Gierlak-Wojcicka,Malwina Kepa,Adam Sikorski,Marcin Sobieraj,Maria Mazurkiewicz-Bełdzińska,Anna Lemska,Sandra Modrzejewska,Mateusz Koberda,U. 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 A. Melnik,Natalya Leppenen,Nataliya Yupatova,A. I. Monakhova,Yu. O. Papina,Olga Shidlovsckaia,Vedrana Milic Rasic,V. Brankovic,Ana Kosac,Olivera Djokic,Vesna Jaksic,Ana Pepic,Jelena S. Martinović,Francina Munell Casadesus,Eduardo F. Tizzano,Nieves Martín Begue,Charlotte Wolley Dod,O. Subirà,Bernat Planas Pascual,E. Toro Tamargo,M. Madruga Garrido,J. Romero,Marta Salinas,Andrés Nascimento Osorio,Ana Díaz Cortés,Enrique Jiménez Gañán,Simone Dowon Suh,Julita Medina-Cantillo,O. Moya,N. Padros,S. Urraca,H. Valdivia,S. Pascual,Sofia Manuel,Susana Noval Martin,Paul M. Burnham,S. E. Garcia,Mercedes Martínez Moreno,Haluk Topaloglu,Ibrahim Oncel,Nesibe Gevher Eroglu Ertugrul,Bahadır Konuşkan,Bora Eldem,Sibel Kadayifcilar,I. Alemdaroglu,Ayşe Karaduman,O. Tunca Yilmaz,Neslihan Bilgin,S. Sarı,Claudia A. Chiriboga,Steven Kane,John T. Lee,Donnielle Rome-Martin,Shannon Beres,Tina Duong,Richard Gee,Sally Dunaway Young +316 more
TL;DR: Risdiplam resulted in a significant improvement in motor function compared with placebo in patients aged 2-25 years with type 2 or non-ambulant type 3 spinal muscular atrophy, and exploratory subgroup analyses showed that motor function was generally improved in younger individuals and stabilised efficacy of risdiplam in older individuals.
Journal ArticleDOI
The oral splicing modifier RG7800 increases full length survival of motor neuron 2 mRNA and survival of motor neuron protein: Results from trials in healthy adults and patients with spinal muscular atrophy
Heidemarie Kletzl,Anne Marquet,Andreas Günther,Wakana Tang,Jules A. A. C. Heuberger,Geert Jan Groeneveld,W. Birkhoff,Eugenio Mercuri,Hanns Lochmüller,Claire L Wood,Dirk Fischer,Irene Gerlach,Katja Heinig,Teodorica L. Bugawan,Sebastian Dziadek,Russell Kinch,Christian Czech,Omar Khwaja +17 more
TL;DR: In two trials, oral administration of RG7800 increased in blood full-length SMN2 mRNA expression in healthy adults and SMN protein levels in SMA patients by up to two-fold, which is expected to provide clinical benefit.