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3. Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments

Author

Salort-Campana, Emmanuelle, Solé, Guilhem, Magot, Armelle, Tard, Céline, Noury, Jean-Baptiste, Behin, Anthony, De La Cruz, Elisa, Boyer, François, Lefeuvre, Claire, Masingue, Marion, Debergé, Louise, Finet, Armelle, Brison, Mélanie, Spinazzi, Marco, Pegat, Antoine, Sacconi, Sabrina, Malfatti, Edoardo, Choumert, Ariane, Bellance, Rémi, Bedat-Millet, Anne-Laure, Feasson, Léonard, Vuillerot, Carole, Jacquin-Piques, Agnès, Michaud, Maud, Pereon, Yann, Stojkovic, Tanya, Laforêt, Pascal, Attarian, Shahram, and Cintas, Pascal

Published
2024
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4. Safety and efficacy of losmapimod in facioscapulohumeral muscular dystrophy (ReDUX4): a randomised, double-blind, placebo-controlled phase 2b trial

Author

Tawil, Rabi, Wagner, Kathryn R, Hamel, Johanna I, Leung, Doris G, Statland, Jeffrey M, Wang, Leo H, Genge, Angela, Sacconi, Sabrina, Lochmüller, Hanns, Reyes-Leiva, David, Diaz-Manera, Jordi, Alonso-Perez, Jorge, Muelas, Nuria, Vilchez, Juan J, Pestronk, Alan, Gibson, Summer, Goyal, Namita A, Hayward, Lawrence J, Johnson, Nicholas, LoRusso, Samantha, Freimer, Miriam, Shieh, Perry B, Subramony, S H, van Engelen, Baziel, Kools, Joost, Leinhard, Olof Dahlqvist, Widholm, Per, Morabito, Christopher, Moxham, Christopher M, Cadavid, Diego, Mellion, Michelle L, Odueyungbo, Adefowope, Tracewell, William G, Accorsi, Anthony, Ronco, Lucienne, Gould, Robert J, Shoskes, Jennifer, Rojas, Luis Alejandro, and Jiang, John G

Published
2024
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5. Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation

Author

Karazi, Walaa, Scalco, Renata S., Stemmerik, Mads G., Løkken, Nicoline, Lucia, Alejandro, Santalla, Alfredo, Martinuzzi, Andrea, Vavla, Marinela, Reni, Gianluigi, Toscano, Antonio, Musumeci, Olimpia, Kouwenberg, Carlyn V., Laforêt, Pascal, Millán, Beatriz San, Vieitez, Irene, Siciliano, Gabriele, Kühnle, Enrico, Trost, Rebecca, Sacconi, Sabrina, Durmus, Hacer, Kierdaszuk, Biruta, Wakelin, Andrew, Andreu, Antoni L., Pinós, Tomàs, Marti, Ramon, Quinlivan, Ros, Vissing, John, and Voermans, Nicol C.

Published
2023
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7. Teleconsultations for mental health: Recommendations from a Delphi panel

Author

Manera, Valeria, Partos, Claudia, Beauchet, Olivier, Benoit, Michel, Dupetit, Benjamin, Elbaum, Julia, Fabre, Roxane, Gindt, Morgane, Gros, Auriane, Guerchouche, Rachid, Klöppel, Stefan, König, Alexandra, Martin, Annick, Mouton, Aurélie, Pancrazi, Marie-Pierre, Politis, Antonios, Robert, Gabriel, Sacco, Guillaume, Sacconi, Sabrina, Sawchuk, Kim, Solari, Fabio, Thiebot, Lucille, Trimarchi, Pietro Davide, Zeghari, Radia, and Robert, Philippe

Published
2023
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8. Hypersensitivity infusion-associated reactions induced by enzyme replacement therapy in a cohort of patients with late-onset Pompe disease: An experience from the French Pompe Registry

Author

Lessard, Lola E.R., Tard, Céline, Salort-Campana, Emmanuelle, Sacconi, Sabrina, Béhin, Anthony, Bassez, Guillaume, Orlikowski, David, Merle, Philippe, Nollet, Sylvain, Gallay, Laure, Bérard, Frédéric, Robinson, Philip, Bouhour, Françoise, and Laforêt, Pascal

Published
2023
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9. Safety and efficacy of rozanolixizumab in patients with generalised myasthenia gravis (MycarinG): a randomised, double-blind, placebo-controlled, adaptive phase 3 study

Author

Genge, Angela, Massie, Rami, Berube, Maxime, Bril, Vera, Daniyal, Lubna, Mannan, Shabber, Ng, Eduardo, Raman, Ritesh Rohan Raghu, Sarpong, Evelyn, Alcantara, Monica, Dionne, Annie, Siddiqi, Zaeem, Blackmore, Derrick, Hussain, Faraz, Matte, Genevieve, Botez, Stephan, Tyblova, Michaela, Jakubikova, Michala, Junkerova, Jana, Vissing, John, Witting, Nanna, Holm-Yildiz, Sonja, Stemmerik, Mads, Andersen, Henning, Obál, Izabella, Solé, Guilhem, Mathis, Stéphane, Violleau, Marie-Hélène, Tranchant, Christine, Messai, Sihame, Chanson, Jean-Baptiste, Nadaj-Pakleza, Aleksandra, Verloes, Arnaud, Zaidi, Leila, Sacconi, Sabrina, Gambella, Manuela, Cavalli, Michele, Stojkovic, Tanya, Demeret, Sophie, Le Guennec, Loic, Querin, Giorgia, Weiss, Nicolas, Masingue, Marion, Magy, Laurent, Ghorab, Karima, Rukhadze, Ia, Tsiskaridze, Alexander, Janelidze, Marina, Margania, Temur, Then Bergh, Florian, Hänsel, Eike, Kalb, Andrea, Meilick, Bianca, Reuschel, Mandy, Teußer, Lars-Malte, Unterlauft, Astrid, Goedel, Clemens, Hagenacker, Tim, Totzeck, Andreas, Stolte, Benjamin, Blaes, Franz, Bindler, Christine, Tsoutsikas, Vasilios, Roediger, Annekathrin, Geis, Christian, Schmidt, Jens, Zschüntzsch, Jana, Schwarz, Margret, Meyer, Stefanie, Kummer, Karsten, Glaubitz, Stefanie, Zeng, Rachel, Wiendl, Heinz, Klotz, Luisa, Lammerskitten, Anna, Lünemann, Jan, Diószeghy, Péter, Mantegazza, Renato, Maggi, Lorenzo, Rinaldi, Elena, Gastaldi, Matteo, Mazzacane, Federico, Businaro, Pietro, Iorio, Raffaele, Antonini, Giovanni, Fionda, Laura, Rinaldi, Rita, Rossi, Simone, Habetswallner, Francesco, Tuccillo, Francesco, Umehara, Haruna, Uenaka, Eiko, Takahashi, Masanori, Higashi, Keiko, Kinoshita, Makoto, Yoneda, Emika, Nakamura, Noriko, Fujita, Saeka, Kubota, Tomoya, Ono, Masami, Yamamoto, Sana, Hatano, Taku, Oikoshi, Kazuki, Yokoyama, Kazumasa, Oji, Yutaka, Tomizawa, Yuji, Uzawa, Akiyuki, Yasuda, Manato, Akita, Sachiko, Ozawa, Yukiko, Onishi, Yosuke, Takaki, Miki, Yamada, Hiromi, Minemoto, Kanako, Sanko, Miki, Izawa, Nanae, Nakayama, Mayumi, Masuda, Masayuki, Tsuji, Rune, Ido, Nobuhiro, Hyodo, Yumi, Okubo, Yoshihiko, Minohara, Akiko, Haraguchi, Nana, Naito, Makiko, Yoshida, Seiko, Fukushige, Yuri, Tsujino, Akira, Nagaoka, Atsushi, Miyazaki, Teiichiro, Yoshimura, Shunsuke, Hirayama, Takuro, Shima, Tomoaki, Okamoto, Naoko, Matsumoto, Riki, Sekiguchi, Kenji, Ueda, Takehiro, Chihara, Norio, Kirimura, Mari, Sunagawa, Emi, Suzuki, Ayaka, Suzuki, Shigeaki, Wada, Aozora, Ishizuchi, Kei, Suzuki, Yasushi, Yata, Mitsuo, Komatsu, Yuka, Tsukita, Kenichi, Watanabe, Genya, Sato, Kazuki, Kawasaki, Emiko, Yamamoto, Naoki, Ono, Hirohiko, Tsuda, Tomoko, Ohashi, Shigeki, Utsugisawa, Kimiaki, Fujisawa, Yuka, Yokota, Yumiko, Nagane, Yuriko, Ayumi, Kameda, Takematsu, Yuka, Naito, Hiroyuki, Sugimoto, Takamichi, Kuwada, Kumiko, Rejdak, Konrad, Szklener, Sebastian, Kitowska, Monika, Derkacz, Kandyda, Druzdz, Artur, Berkowicz, Tomasz, Budzinska, Paulina, Halas, Marek, Zaslavskiy, Leonid, Skornyakova, Evgeniya, Kotov, Sergey, Novikova, Ekaterina, Sidorova, Olga, Goldobin, Vitalii, Alekseeva, Tatiana, Isabekova, Patimat, Malkova, Nadezhda, Korobko, Denis, Djordjevic, Gordana, Stojanov, Aleksandar, Peric, Stojan, Lavrnic, Dragana, Bozovic, Ivo, Palibrk, Aleksa, Casasnovas, Carlos, Nedkova-Hristova, Velina, Vidal Fernández, Nuria, Cortés Vicente, Elena, Querol Gutiérrez, Luis, Salvadó Figueras, Maria, Canovas Segura, Anna, Juntas Morales, Raúl, Sanchez Tejerina, Daniel, Saiz, Albert, Blanco Morgado, Yolanda, Llufriú Durán, Sara, Sepúlveda Gázquez, María, Martínez Hernández, Eugenia María, Gutiérrez Gutiérrez, Gerardo, Iniesta, Paqui, Meca Lallana, José, Guo, Yuh-Cherng, Chiu, Hou-Chang, Yeh, Jiann-Horng, Chen, Ya Hui, Lee, Mei Fen, Lee, Yi-Chung, Lai, Kuan Lin, Beydoun, Said, Akhter, Salma, Vu, Tuan, Lam, Lucy, Thomas, Alisha, Rivner, Michael, Quarles, Brandy, Lange, Dale, Holzberg, Shara, Pavlakis, Pantelis, Goutham, Ashwathy, Kaminski, Henry, Aly, Radwa, Ashworth, Lisa, Bender, Kathryn, Bond, Karie, Buckner, Joanne, Byerly, Sara, Caress, James, Clemons, Jessyca, Farmer, Asha, Franklin, Catherine, Harris, Summer, Hiatt, Meredith, Gandhi Mehta, Rachana, Miller, Gina, Smith, Lynn, Smith, Rose, Strittmatter, Brian, Mozaffar, Tahseen, Habib, Ali A, Hernandez, Isela, Moulton, Kelsey, Karam, Chafic, Ravikumar, Pranali, Lomen-Hoerth, Catherine, Rosow, Laura, George, Hannah, Irodenko, Viktoriya, Kang, Min, Denny, Carol, Hanson, Bart, Klein, Sara, Martinez-Thompson, Jennifer, Naddaf, Elie, Padgett, Denny, Sorenson, Eric, L Sultze, Jane, Weis, Delena, Rezania, Kourosh, Thonhoff, Jason, Shroff, Sheetal, Pascuzzi, Robert, Micheels, Angela, Bodkin, Cynthia, Comer, Adam, Baras, Gelasio, Wagner, Renee, Mahuwala, Zabeen, Ryan, Stephen, Su, Kai, Sharma, Khema, Brown, Andrew, Liow, Kore, Drużdż, Artur, Grosskreutz, Julian, Boehnlein, Marion, Bozorg, Ali, Gayfieva, Maryam, Greve, Bernhard, Woltering, Franz, and Kaminski, Henry J

Published
2023
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11. SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain.

Author

Shaw, Natalie, Selvatici, Rita, Ferlini, Alessandra, Voermans, Nicol, van Engelen, Baziel, Sacconi, Sabrina, Tawil, Rabi, Lamers, Meindert, van der Maarel, Silvère, Lemmers, Richard, van der Stoep, Nienke, Vliet, Patrick, Moore, Steven, San Leon Granado, David, Johnson, Katherine, Topf, Ana, Straub, Volker, Evangelista, Teresinha, Kimonis, Virginia, and Mozaffar, Tahseen

Subjects
ATPase domain, BAMS, D4Z4, DUX4, FSHD, SMCHD1, mutation spectrum, Adenosine Triphosphatases, Choanal Atresia, Chromosomal Proteins, Non-Histone, DNA Methylation, Female, Genetic Variation, Humans, Male, Microphthalmos, Muscular Dystrophy, Facioscapulohumeral, Mutation, Mutation, Missense, Nose, Protein Domains
Abstract

BACKGROUND: Variants in the Structural Maintenance of Chromosomes flexible Hinge Domain-containing protein 1 (SMCHD1) can cause facioscapulohumeral muscular dystrophy type 2 (FSHD2) and the unrelated Bosma arhinia microphthalmia syndrome (BAMS). In FSHD2, pathogenic variants are found anywhere in SMCHD1 while in BAMS, pathogenic variants are restricted to the extended ATPase domain. Irrespective of the phenotypic outcome, both FSHD2-associated and BAMS-associated SMCHD1 variants result in quantifiable local DNA hypomethylation. We compared FSHD2, BAMS and non-pathogenic SMCHD1 variants to derive genotype-phenotype relationships. METHODS: Examination of SMCHD1 variants and methylation of the SMCHD1-sensitive FSHD locus DUX4 in 187 FSHD2 families, 41 patients with BAMS and in control individuals. Analysis of variants in a three-dimensional model of the ATPase domain of SMCHD1. RESULTS: DUX4 methylation analysis is essential to establish pathogenicity of SMCHD1 variants. Although the FSHD2 mutation spectrum includes all types of variants covering the entire SMCHD1 locus, missense variants are significantly enriched in the extended ATPase domain. Identification of recurrent variants suggests disease-specific residues for FSHD2 and in BAMS, consistent with a largely disease-specific localisation of variants in SMCHD1. CONCLUSIONS: The localisation of missense variants within the ATPase domain of SMCHD1 may contribute to the differences in phenotypic outcome.

Published
2019

12. SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain.

Author

Lemmers, Richard JLF, van der Stoep, Nienke, Vliet, Patrick J van der, Moore, Steven A, San Leon Granado, David, Johnson, Katherine, Topf, Ana, Straub, Volker, Evangelista, Teresinha, Mozaffar, Tahseen, Kimonis, Virginia, Shaw, Natalie D, Selvatici, Rita, Ferlini, Alessandra, Voermans, Nicol, van Engelen, Baziel, Sacconi, Sabrina, Tawil, Rabi, Lamers, Meindert, and van der Maarel, Silvère M

Subjects
Nose, Humans, Muscular Dystrophy, Facioscapulohumeral, Choanal Atresia, Microphthalmos, Chromosomal Proteins, Non-Histone, DNA Methylation, Mutation, Mutation, Missense, Female, Male, Adenosine Triphosphatases, Genetic Variation, Protein Domains, ATPase domain, BAMS, D4Z4, DUX4, FSHD, SMCHD1, mutation spectrum, Genetics, Muscular Dystrophy, Brain Disorders, Rare Diseases, Intellectual and Developmental Disabilities (IDD), Facioscapulohumeral Muscular Dystrophy, 2.1 Biological and endogenous factors, Aetiology, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

BackgroundVariants in the Structural Maintenance of Chromosomes flexible Hinge Domain-containing protein 1 (SMCHD1) can cause facioscapulohumeral muscular dystrophy type 2 (FSHD2) and the unrelated Bosma arhinia microphthalmia syndrome (BAMS). In FSHD2, pathogenic variants are found anywhere in SMCHD1 while in BAMS, pathogenic variants are restricted to the extended ATPase domain. Irrespective of the phenotypic outcome, both FSHD2-associated and BAMS-associated SMCHD1 variants result in quantifiable local DNA hypomethylation. We compared FSHD2, BAMS and non-pathogenic SMCHD1 variants to derive genotype-phenotype relationships.MethodsExamination of SMCHD1 variants and methylation of the SMCHD1-sensitive FSHD locus DUX4 in 187 FSHD2 families, 41 patients with BAMS and in control individuals. Analysis of variants in a three-dimensional model of the ATPase domain of SMCHD1.ResultsDUX4 methylation analysis is essential to establish pathogenicity of SMCHD1 variants. Although the FSHD2 mutation spectrum includes all types of variants covering the entire SMCHD1 locus, missense variants are significantly enriched in the extended ATPase domain. Identification of recurrent variants suggests disease-specific residues for FSHD2 and in BAMS, consistent with a largely disease-specific localisation of variants in SMCHD1.ConclusionsThe localisation of missense variants within the ATPase domain of SMCHD1 may contribute to the differences in phenotypic outcome.

Published
2019

13. Expanding the importance of HMERF titinopathy: new mutations and clinical aspects

Author

Palmio, Johanna, Leonard-Louis, Sarah, Sacconi, Sabrina, Savarese, Marco, Penttilä, Sini, Semmler, Anna-Lena, Kress, Wolfram, Mozaffar, Tahseen, Lai, Tim, Stojkovic, Tanya, Berardo, Andres, Reisin, Ricardo, Attarian, Shahram, Urtizberea, Andoni, Cobo, Ana Maria, Maggi, Lorenzo, Kurbatov, Sergei, Nikitin, Sergei, Milisenda, José C, Fatehi, Farzad, Raimondi, Monika, Silveira, Fernando, Hackman, Peter, Claeys, Kristl G, and Udd, Bjarne

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Biomedical Imaging, Genetics, Clinical Research, Rare Diseases, Lung, Aetiology, 2.1 Biological and endogenous factors, Musculoskeletal, Adult, Age of Onset, Connectin, Female, Genetic Diseases, Inborn, Humans, Male, Middle Aged, Muscle, Skeletal, Muscular Diseases, Mutation, Pedigree, Respiratory Insufficiency, Young Adult, Hereditary myopathy, Respiratory failure, Titin, Titinopathy, mutations, Titinopathy, mutations, Neurosciences, Neurology & Neurosurgery, Clinical sciences
Abstract

ObjectiveHereditary myopathy with early respiratory failure (HMERF) is caused by titin A-band mutations in exon 344 and considered quite rare. Respiratory insufficiency is an early symptom. A collection of families and patients with muscle disease suggestive of HMERF was clinically and genetically studied.MethodsAltogether 12 new families with 19 affected patients and diverse nationalities were studied. Most of the patients were investigated using targeted next-generation sequencing; Sanger sequencing was applied in some of the patients and available family members. Histological data and muscle MRI findings were evaluated.ResultsThree families had several family members studied while the rest were single patients. Most patients had distal and proximal muscle weakness together with respiratory insufficiency. Five heterozygous TTN A-band mutations were identified of which two were novel. Also with the novel mutations the muscle pathology and imaging findings were compatible with the previous reports of HMERF.ConclusionsOur collection of 12 new families expands mutational spectrum with two new mutations identified. HMERF is not that rare and can be found worldwide, but maybe underdiagnosed. Diagnostic process seems to be complex as this study shows with mostly single patients without clear dominant family history.

Published
2019

14. Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy

Author

Sanson, Benoît, Stalens, Caroline, Guien, Céline, Villa, Luisa, Eng, Catherine, Rabarimeriarijaona, Sitraka, Bernard, Rafaëlle, Cintas, Pascal, Solé, Guilhem, Tiffreau, Vincent, Echaniz-Laguna, Andoni, Magot, Armelle, Juntas Morales, Raul, Boyer, François Constant, Nadaj-Pakleza, Aleksandra, Jacquin-Piques, Agnès, Béroud, Christophe, and Sacconi, Sabrina

Published
2022
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16. Bulbar muscle impairment in patients with late onset Pompe disease: Insight from the French Pompe registry.

Author

Retailleau, Emilie, Lefeuvre, Claire, De Antonio, Marie, Bouhour, Françoise, Tard, Celine, Salort‐Campana, Emmanuelle, Lagrange, Emmeline, Béhin, Anthony, Solé, Guilhem, Noury, Jean‐Baptiste, Sacconi, Sabrina, Magot, Armelle, Pakleza, Aleksandra Nadaj, Orlikowski, David, Beltran, Stéphane, Spinazzi, Marco, Cintas, Pascal, Fournier, Maxime, Bouibede, Fatma, and Prigent, Hélène

Subjects
PERCUTANEOUS endoscopic gastrostomy, SPEECH therapists, NEUROMUSCULAR diseases, BODY mass index, MEDICAL registries, GLYCOGEN storage disease type II, ASPIRATION pneumonia
Abstract

Background and purpose: Late onset Pompe disease (LOPD) is a rare neuromuscular disorder caused by a deficit in acid alpha‐glucosidase. Macroglossia and swallowing disorders have already been reported, but no study has focused yet on its frequency and functional impact on patients' daily life. Methods: We reviewed 100 adult LOPD patients followed in 17 hospitals in France included in the French national Pompe disease registry. The Swallowing Quality of Life Questionnaire and the Sydney Swallow Questionnaire were completed by patients, and a specialist carried out a medical examination focused on swallowing and assigned a Salassa score to each patient. Respiratory and motor functions were also recorded. Subgroup analysis compared patients with and without swallowing difficulties based on Salassa score. Results: Thirty‐two percent of patients presented with swallowing difficulties, often mild but sometimes severe enough to require percutaneous endoscopic gastrostomy (1%). Daily dysphagia was reported for 20% of our patients and aspirations for 18%; 9.5% were unable to eat away from home. Macroglossia was described in 18% of our patients, and 11% had lingual atrophy. Only 15% of patients presenting with swallowing disorders were followed by a speech therapist. Swallowing difficulties were significantly associated with macroglossia (p = 0.015), longer duration of illness (p = 0.032), and a lower body mass index (p = 0.047). Conclusions: Swallowing difficulties in LOPD are common and have significant functional impact. Increased awareness by physicians of these symptoms with systematic examination of the tongue and questions about swallowing can lead to appropriate multidisciplinary care with a speech therapist and dietitian if needed. [ABSTRACT FROM AUTHOR]

Published
2024
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17. Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial

Author

Sebok, Agnes, Pestronk, Alan, Dominovic-Kovacevic, Aleksandra, Khan, Aneal, Koritnik, Blaž, Tard, Celine, Lindberg, Christopher, Quinn, Colin, Kornblum, Cornelia, Eldridge, Crystal, Bodkin, Cynthia, Reyes-Leiva, David, Hughes, Derralynn, Stefanescu, Ela, SALORT-CAMPANA, Emmanuelle, Butler, Ernest, Bouhour, Francoise, Kim, Gee, Konstantinos Papadimas, George, Parenti, Giancarlo, Bartosik-Psujek, Halina, Kushlaf, Hani, Akihiro, Hashiguchi, Lau, Heather, Pedro, Helio, Andersen, Henning, Amartino, Hernan, Shiraishi, Hideaki, Kobayashi, Hiroshi, Tarnev, Ivaylo, Vengoechea, Jaime, Avelar, Jennifer, Shin, Jin-Hong, Cauci, Jonathan, Alonso-Pérez, Jorge, Janszky, Jozsef, Berthy, Julie, Gutschmidt, Kristina, Claeys, Kristl, Judit Molnar, Maria, Wencel, Marie, Tarnopolsky, Mark, Dimachkie, Mazen, Tchan, Michel, Freimer, Miriam, Longo, Nicola, Vidal-Fernandez, Nuria, Musumeci, Olimpia, Goker-Alpan, Ozlem, Deegan, Patrick, Clemens, Paula R., Roxburgh, Richard, Henderson, Robert, Hopkin, Robert, Sacconi, Sabrina, Fecarotta, Simona, Attarian, Shahram, Wenninger, Stephan, Dearmey, Stephanie, Hiwot, Tarekegn, Burrow, Thomas, Ruck, Tobias, Sawada, Tomo, Laszlo, Vescei, Löscher, Wolfgang, Chien, Yin-Hsiu, Schoser, Benedikt, Roberts, Mark, Byrne, Barry J, Sitaraman, Sheela, Jiang, Hai, Laforêt, Pascal, Toscano, Antonio, Castelli, Jeff, Díaz-Manera, Jordi, Goldman, Mitchell, van der Ploeg, Ans T, Bratkovic, Drago, Kuchipudi, Srilakshmi, Mozaffar, Tahseen, and Kishnani, Priya S

Published
2021
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18. Response to Rozanolixizumab Across Treatment Cycles in Patients with Generalized Myasthenia Gravis: A Post-hoc Analysis (P10-11.005)

Author

Pascuzzi, Robert M., primary, Grosskreutz, Julian, additional, Habib, Ali A., additional, Mahuwala, Zabeen K., additional, Mantegazza, Renato, additional, Sacconi, Sabrina, additional, Vissing, John, additional, Vu, Tuan, additional, Lejdstrom, Raphaёlle Beau, additional, Greve, Bernhard, additional, Grimson, Fiona, additional, Tarancón, Thaïs, additional, and Bril, Vera, additional

Published
2024
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19. Drivers of New Rozanolixizumab Treatment Cycles in Patients with Generalized Myasthenia Gravis in the Phase 3 MycarinG and Open-label Extension Studies (P10-11.003)

Author

Mahuwala, Zabeen K., primary, Grosskreutz, Julian, additional, Habib, Ali A., additional, Mantegazza, Renato, additional, Pascuzzi, Robert M., additional, Sacconi, Sabrina, additional, Vissing, John, additional, Vu, Tuan, additional, Beau-Lejdstrom, Raphaelle, additional, Greve, Bernhard, additional, Grimson, Fiona, additional, Tarancón, Thaïs, additional, and Bril, Vera, additional

Published
2024
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20. The Safety and Efficacy of Chronic Weekly Rozanolixizumab Treatment in Patients with Generalized Myasthenia Gravis (MG0004) (P4-14.017)

Author

Bril, Vera, primary, Drużdż, Artur, additional, Grosskreutz, Julian, additional, Habib, Ali A., additional, Kaminski, Henry J., additional, Mantegazza, Renato, additional, Sacconi, Sabrina, additional, Utsugisawa, Kimiaki, additional, Vu, Tuan, additional, Boehnlein, Marion, additional, Woltering, Franz, additional, Greve, Bernhard, additional, Gayfieva, Maryam, additional, and Vissing, John, additional

Published
2024
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21. Dystrophies musculaires des ceintures associées aux mutations de TRIM32 : cohorte française et revue de la littérature

Author

Guérémy, Alexandre, primary, Salort-Campana, Emmanuelle, additional, Fortanier, Etienne, additional, Magot, Armelle, additional, Bouhour, Françoise, additional, Solé, Guilhem, additional, Noury, Jean-Baptiste, additional, Behin, Anthony, additional, France, Leturcq, additional, Stojkovic, Tanya, additional, du Closel, Luce Barbat, additional, Sacconi, Sabrina, additional, Metay, Corinne, additional, Gorokhova, Svetlana, additional, Attarian, Shahram, additional, Nadaj-pakleza, Aleksandra, additional, Cerino, Mathieu, additional, Eymard, Bruno, additional, and Juliette, Nectoux, additional

Published
2024
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22. NEO1/NEO-EXT studies: Long-term muscle quantitative magnetic resonance imaging and functional efficacy in adults with late-onset Pompe disease (LOPD) on avalglucosidase alfa treatment

Author

Byrne, Barry, primary, Carlier, Pierre G., additional, Vissing, John, additional, Dimachkie, Mazen M., additional, Barohn, Richard, additional, Kishnani, Priya S., additional, Ladha, Shafeeq, additional, Mengel, Eugen, additional, Sacconi, Sabrina, additional, Trivedi, Jaya, additional, Young, Peter, additional, Haack, Kristina An, additional, Armstrong, Nicole, additional, Miossec, Patrick, additional, Thibault, Nathan, additional, Sparks, Susan, additional, Schoser, Benedikt, additional, and Diaz-Manera, Jordi, additional

Published
2024
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23. COMET post hoc analysis: Efficacy of long-term avalglucosidase alfa in subgroups of participants with late-onset Pompe disease

Author

Toscano, Antonio, primary, Kishnani, Priya, additional, Dimachkie, Mazen M., additional, Sacconi, Sabrina, additional, Van der Beek, Nadine, additional, Roberts, Mark E., additional, Suwazono, Shugo, additional, Choi, Young Chul, additional, de Souza, Paulo Victor Sgobbi, additional, Schoser, Benedikt, additional, Armstrong, Nicole, additional, Huynh-Ba, Olivier, additional, Thibault, Nathan, additional, Periquet, Magali, additional, and Diaz-Manera, Jordi, additional

Published
2024
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25. Long-term Safety and Efficacy of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease

Author

Dimachkie, Mazen M., Barohn, Richard J., Byrne, Barry, Goker-Alpan, Ozlem, Kishnani, Priya S., Ladha, Shafeeq, Laforêt, Pascal, Mengel, Karl Eugen, Peña, Loren D.M., Sacconi, Sabrina, Straub, Volker, Trivedi, Jaya, Van Damme, Philip, van der Ploeg, Ans T., Vissing, John, Young, Peter, Haack, Kristina An, Foster, Meredith, Gilbert, Jane M., Miossec, Patrick, Vitse, Olivier, Zhou, Tianyue, and Schoser, Benedikt

Published
2022
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26. Real‐life effectiveness 1 year after switching to avalglucosidase alfa in late‐onset Pompe disease patients worsening on alglucosidase alfa therapy: A French cohort study.

Author

Tard, Céline, Bouhour, Françoise, Michaud, Maud, Beltran, Stephane, Fournier, Maxime, Demurger, Florence, Lagrange, Emmeline, Nollet, Sylvain, Sacconi, Sabrina, Noury, Jean‐Baptiste, Magot, Armelle, Cintas, Pascal, Renard, Dimitri, Deibener‐Kaminsky, Joëlle, Lefeuvre, Claire, Davion, Jean‐Baptiste, Salort‐Campana, Emmanuelle, Arrassi, Azzeddine, Taouagh, Nadjib, and Spinazzi, Marco

Subjects
ENZYME replacement therapy, COHORT analysis, VITAL capacity (Respiration), GLYCOGEN storage disease type II
Abstract

Introduction: Late‐onset Pompe disease (LOPD) is characterized by a progressive myopathy resulting from a deficiency of acid α‐glucosidase enzyme activity. Enzyme replacement therapy has been shown to be effective, but long‐term treatment results vary. Avalglucosidase alfa demonstrated non‐inferiority to alglucosidase alfa in a phase 3 study, allowing in France compassionate access for advanced LOPD patients unresponsive to alglucosidase alfa. Methods: Data from the French Pompe registry were analyzed for patients who benefited from a switch to avalglucosidase alfa with at least 1 year of follow‐up. Respiratory (forced vital capacity [FVC]) and motor functions (Six‐Minute Walk Test [6MWT]) were assessed before and 1 year after switching. Individual changes in FVC and 6MWT were expressed as slopes and statistical analyses were performed to compare values. Results: Twenty‐nine patients were included (mean age 56 years, 11 years of prior treatment). The FVC and 6MWT values remained stable. The individual analyses showed a stabilization of motor worsening: –1 m/year on the 6MWT after the switch versus –63 m/year the year before the switch (i.e., a worsening of 33%/year before vs. an improvement of 3%/year later). Respiratory data were not statistically different. Discussion: At the group level, gait parameters improved slightly with a stabilization of previous worsening, but respiratory parameters showed limited changes. At the individual level, results were discordant, with some patients with a good motor or respiratory response and some with further worsening. Conclusion: Switching to avalglucosidase alfa demonstrated varied responses in advanced LOPD patients with failing alglucosidase alfa therapy, with a general improvement in motor stabilization. [ABSTRACT FROM AUTHOR]

Published
2024
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28. Rozanolixizumab responder and minimal symptom expression rates in generalized myasthenia gravis: Pooled phase 3 and extension studies

Author

Bril, Vera, primary, Vissing, John, additional, Drużdż, Artur, additional, Grosskreutz, Julian, additional, Habib, Ali A., additional, Mantegazza, Renato, additional, Sacconi, Sabrina, additional, Utsugisawa, Kimiaki, additional, Vu, Tuan, additional, Boehnlein, Marion, additional, Greve, Bernhard, additional, Woltering, Franz, additional, and Gayfieva, Maryam, additional

Published
2023
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29. A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course

Author

Biancalana, Valérie, Rendu, John, Chaussenot, Annabelle, Mecili, Helen, Bieth, Eric, Fradin, Mélanie, Mercier, Sandra, Michaud, Maud, Nougues, Marie-Christine, Pasquier, Laurent, Sacconi, Sabrina, Romero, Norma B., Marcorelles, Pascale, Authier, François Jérôme, Gelot Bernabe, Antoinette, Uro-Coste, Emmanuelle, Cances, Claude, Isidor, Bertrand, Magot, Armelle, Minot-Myhie, Marie-Christine, Péréon, Yann, Perrier-Boeswillwald, Julie, Bretaudeau, Gilles, Dondaine, Nicolas, Bouzenard, Alison, Pizzimenti, Mégane, Eymard, Bruno, Ferreiro, Ana, Laporte, Jocelyn, Fauré, Julien, and Böhm, Johann

Published
2021
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30. Hereditary transthyretin amyloidosis in middle-aged and elderly patients with idiopathic polyneuropathy: a nationwide prospective study.

Author

Fargeot, Guillaume, Echaniz-Laguna, Andoni, Labeyrie, Céline, Svahn, Juliette, Camdessanché, Jean-Philippe, Cintas, Pascal, Chanson, Jean-Baptiste, Esselin, Florence, Piedvache, Céline, Verstuyft, Céline, Genestet, Steeve, Lagrange, Emmeline, Magy, Laurent, Péréon, Yann, Sacconi, Sabrina, Signate, Aissatou, Nadaj-Pakleza, Aleksandra, Taithe, Frédéric, Viala, Karine, and Tard, Céline

Subjects
OLDER patients, CARDIAC amyloidosis, POLYNEUROPATHIES, TRANSTHYRETIN, NERVE conduction studies, AMYLOIDOSIS
Abstract

Hereditary transthyretin amyloidosis (ATTRv) is an adult-onset autosomal dominant disease resulting from TTR gene pathogenic variants. ATTRv often presents as a progressive polyneuropathy, and effective ATTRv treatments are available. In this 5 year-long (2017–2021) nationwide prospective study, we systematically analysed the TTR gene in French patients with age >50 years with a progressive idiopathic polyneuropathy. 553 patients (70% males) with a mean age of 70 years were included. A TTR gene pathogenic variant was found in 15 patients (2.7%), including the Val30Met TTR variation in 10 cases. In comparison with patients with no TTR gene pathogenic variants (n = 538), patients with TTR pathogenic variants more often presented with orthostatic hypotension (53 vs. 21%, p =.007), significant weight loss (33 vs 11%, p =.024) and rapidly deteriorating nerve conduction studies (26 vs. 8%, p =.03). ATTRv diagnosis led to amyloid cardiomyopathy diagnosis in 11 cases, ATTRv specific treatment in all cases and identification of 15 additional ATTRv cases among relatives. In this nationwide prospective study, we found ATTRv in 2.7% of patients with age >50 years with a progressive polyneuropathy. These results are highly important for the early identification of patients in need of disease-modifying treatments. [ABSTRACT FROM AUTHOR]

Published
2024
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32. Typical CIDP, distal variant CIDP, and anti-MAG antibody neuropathy – an ultra-high frequency ultrasound comparison of nerve structure

Author

Puma, Angela, primary, Grecu, Nicolae, additional, Badea, Raluca Ș., additional, Morisot, Adeline, additional, Zugravu, Roxana, additional, Ioncea, Mihai B., additional, Cavalli, Michele, additional, Lăcătuș, Oana, additional, Ezaru, Andra, additional, Hacina, Chorfa, additional, Villa, Luisa, additional, Raffaelli, Charles, additional, Azulay, Nicolas, additional, and Sacconi, Sabrina, additional

Published
2023
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33. Safety and efficacy of rozanolixizumab in patients with generalised myasthenia gravis (MycarinG): a randomised, double-blind, placebo-controlled, adaptive phase 3 study

Author

Bril, Vera, primary, Drużdż, Artur, additional, Grosskreutz, Julian, additional, Habib, Ali A, additional, Mantegazza, Renato, additional, Sacconi, Sabrina, additional, Utsugisawa, Kimiaki, additional, Vissing, John, additional, Vu, Tuan, additional, Boehnlein, Marion, additional, Bozorg, Ali, additional, Gayfieva, Maryam, additional, Greve, Bernhard, additional, Woltering, Franz, additional, Kaminski, Henry J, additional, Genge, Angela, additional, Massie, Rami, additional, Berube, Maxime, additional, Bril, Vera, additional, Daniyal, Lubna, additional, Mannan, Shabber, additional, Ng, Eduardo, additional, Raman, Ritesh Rohan Raghu, additional, Sarpong, Evelyn, additional, Alcantara, Monica, additional, Dionne, Annie, additional, Siddiqi, Zaeem, additional, Blackmore, Derrick, additional, Hussain, Faraz, additional, Matte, Genevieve, additional, Botez, Stephan, additional, Tyblova, Michaela, additional, Jakubikova, Michala, additional, Junkerova, Jana, additional, Witting, Nanna, additional, Holm-Yildiz, Sonja, additional, Stemmerik, Mads, additional, Andersen, Henning, additional, Obál, Izabella, additional, Solé, Guilhem, additional, Mathis, Stéphane, additional, Violleau, Marie-Hélène, additional, Tranchant, Christine, additional, Messai, Sihame, additional, Chanson, Jean-Baptiste, additional, Nadaj-Pakleza, Aleksandra, additional, Verloes, Arnaud, additional, Zaidi, Leila, additional, Gambella, Manuela, additional, Cavalli, Michele, additional, Stojkovic, Tanya, additional, Demeret, Sophie, additional, Le Guennec, Loic, additional, Querin, Giorgia, additional, Weiss, Nicolas, additional, Masingue, Marion, additional, Magy, Laurent, additional, Ghorab, Karima, additional, Rukhadze, Ia, additional, Tsiskaridze, Alexander, additional, Janelidze, Marina, additional, Margania, Temur, additional, Then Bergh, Florian, additional, Hänsel, Eike, additional, Kalb, Andrea, additional, Meilick, Bianca, additional, Reuschel, Mandy, additional, Teußer, Lars-Malte, additional, Unterlauft, Astrid, additional, Goedel, Clemens, additional, Hagenacker, Tim, additional, Totzeck, Andreas, additional, Stolte, Benjamin, additional, Blaes, Franz, additional, Bindler, Christine, additional, Tsoutsikas, Vasilios, additional, Roediger, Annekathrin, additional, Geis, Christian, additional, Schmidt, Jens, additional, Zschüntzsch, Jana, additional, Schwarz, Margret, additional, Meyer, Stefanie, additional, Kummer, Karsten, additional, Glaubitz, Stefanie, additional, Zeng, Rachel, additional, Wiendl, Heinz, additional, Klotz, Luisa, additional, Lammerskitten, Anna, additional, Lünemann, Jan, additional, Diószeghy, Péter, additional, Maggi, Lorenzo, additional, Rinaldi, Elena, additional, Gastaldi, Matteo, additional, Mazzacane, Federico, additional, Businaro, Pietro, additional, Iorio, Raffaele, additional, Antonini, Giovanni, additional, Fionda, Laura, additional, Rinaldi, Rita, additional, Rossi, Simone, additional, Habetswallner, Francesco, additional, Tuccillo, Francesco, additional, Umehara, Haruna, additional, Uenaka, Eiko, additional, Takahashi, Masanori, additional, Higashi, Keiko, additional, Kinoshita, Makoto, additional, Yoneda, Emika, additional, Nakamura, Noriko, additional, Fujita, Saeka, additional, Kubota, Tomoya, additional, Ono, Masami, additional, Yamamoto, Sana, additional, Hatano, Taku, additional, Oikoshi, Kazuki, additional, Yokoyama, Kazumasa, additional, Oji, Yutaka, additional, Tomizawa, Yuji, additional, Uzawa, Akiyuki, additional, Yasuda, Manato, additional, Akita, Sachiko, additional, Ozawa, Yukiko, additional, Onishi, Yosuke, additional, Takaki, Miki, additional, Yamada, Hiromi, additional, Minemoto, Kanako, additional, Sanko, Miki, additional, Izawa, Nanae, additional, Nakayama, Mayumi, additional, Masuda, Masayuki, additional, Tsuji, Rune, additional, Ido, Nobuhiro, additional, Hyodo, Yumi, additional, Okubo, Yoshihiko, additional, Minohara, Akiko, additional, Haraguchi, Nana, additional, Naito, Makiko, additional, Yoshida, Seiko, additional, Fukushige, Yuri, additional, Tsujino, Akira, additional, Nagaoka, Atsushi, additional, Miyazaki, Teiichiro, additional, Yoshimura, Shunsuke, additional, Hirayama, Takuro, additional, Shima, Tomoaki, additional, Okamoto, Naoko, additional, Matsumoto, Riki, additional, Sekiguchi, Kenji, additional, Ueda, Takehiro, additional, Chihara, Norio, additional, Kirimura, Mari, additional, Sunagawa, Emi, additional, Suzuki, Ayaka, additional, Suzuki, Shigeaki, additional, Wada, Aozora, additional, Ishizuchi, Kei, additional, Suzuki, Yasushi, additional, Yata, Mitsuo, additional, Komatsu, Yuka, additional, Tsukita, Kenichi, additional, Watanabe, Genya, additional, Sato, Kazuki, additional, Kawasaki, Emiko, additional, Yamamoto, Naoki, additional, Ono, Hirohiko, additional, Tsuda, Tomoko, additional, Ohashi, Shigeki, additional, Fujisawa, Yuka, additional, Yokota, Yumiko, additional, Nagane, Yuriko, additional, Ayumi, Kameda, additional, Takematsu, Yuka, additional, Naito, Hiroyuki, additional, Kuwada, Kumiko, additional, Rejdak, Konrad, additional, Szklener, Sebastian, additional, Kitowska, Monika, additional, Derkacz, Kandyda, additional, Berkowicz, Tomasz, additional, Budzinska, Paulina, additional, Halas, Marek, additional, Zaslavskiy, Leonid, additional, Skornyakova, Evgeniya, additional, Kotov, Sergey, additional, Novikova, Ekaterina, additional, Sidorova, Olga, additional, Goldobin, Vitalii, additional, Alekseeva, Tatiana, additional, Isabekova, Patimat, additional, Malkova, Nadezhda, additional, Korobko, Denis, additional, Djordjevic, Gordana, additional, Stojanov, Aleksandar, additional, Peric, Stojan, additional, Lavrnic, Dragana, additional, Bozovic, Ivo, additional, Palibrk, Aleksa, additional, Casasnovas, Carlos, additional, Nedkova-Hristova, Velina, additional, Vidal Fernández, Nuria, additional, Cortés Vicente, Elena, additional, Querol Gutiérrez, Luis, additional, Salvadó Figueras, Maria, additional, Canovas Segura, Anna, additional, Juntas Morales, Raúl, additional, Sanchez Tejerina, Daniel, additional, Saiz, Albert, additional, Blanco Morgado, Yolanda, additional, Llufriú Durán, Sara, additional, Sepúlveda Gázquez, María, additional, Martínez Hernández, Eugenia María, additional, Gutiérrez Gutiérrez, Gerardo, additional, Iniesta, Paqui, additional, Meca Lallana, José, additional, Guo, Yuh-Cherng, additional, Chiu, Hou-Chang, additional, Yeh, Jiann-Horng, additional, Chen, Ya Hui, additional, Lee, Mei Fen, additional, Lee, Yi-Chung, additional, Lai, Kuan Lin, additional, Beydoun, Said, additional, Akhter, Salma, additional, Lam, Lucy, additional, Thomas, Alisha, additional, Rivner, Michael, additional, Quarles, Brandy, additional, Lange, Dale, additional, Holzberg, Shara, additional, Pavlakis, Pantelis, additional, Goutham, Ashwathy, additional, Kaminski, Henry, additional, Aly, Radwa, additional, Ashworth, Lisa, additional, Bender, Kathryn, additional, Bond, Karie, additional, Buckner, Joanne, additional, Byerly, Sara, additional, Caress, James, additional, Clemons, Jessyca, additional, Farmer, Asha, additional, Franklin, Catherine, additional, Harris, Summer, additional, Hiatt, Meredith, additional, Gandhi Mehta, Rachana, additional, Miller, Gina, additional, Smith, Lynn, additional, Smith, Rose, additional, Strittmatter, Brian, additional, Mozaffar, Tahseen, additional, Hernandez, Isela, additional, Moulton, Kelsey, additional, Karam, Chafic, additional, Ravikumar, Pranali, additional, Lomen-Hoerth, Catherine, additional, Rosow, Laura, additional, George, Hannah, additional, Irodenko, Viktoriya, additional, Denny, Carol, additional, Hanson, Bart, additional, Klein, Sara, additional, Martinez-Thompson, Jennifer, additional, Naddaf, Elie, additional, Padgett, Denny, additional, Sorenson, Eric, additional, L Sultze, Jane, additional, Weis, Delena, additional, Rezania, Kourosh, additional, Thonhoff, Jason, additional, Shroff, Sheetal, additional, Pascuzzi, Robert, additional, Micheels, Angela, additional, Bodkin, Cynthia, additional, Comer, Adam, additional, Baras, Gelasio, additional, Wagner, Renee, additional, Mahuwala, Zabeen, additional, Ryan, Stephen, additional, Su, Kai, additional, Sharma, Khema, additional, Brown, Andrew, additional, and Liow, Kore, additional

Published
2023
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34. FSHD1 and FSHD2 form a disease continuum

Author

Sacconi, Sabrina, Briand-Suleau, Audrey, Gros, Marilyn, Baudoin, Christian, Lemmers, Richard J.L.F., Rondeau, Sophie, Lagha, Nadira, Nigumann, Pilvi, Cambieri, Chiara, Puma, Angela, Chapon, Françoise, Stojkovic, Tanya, Vial, Christophe, Bouhour, Françoise, Cao, Michelangelo, Pegoraro, Elena, Petiot, Philippe, Behin, Anthony, Marc, Bras, Eymard, Bruno, Echaniz-Laguna, Andoni, Laforet, Pascal, Salviati, Leonardo, Jeanpierre, Marc, Cristofari, Gaël, and van der Maarel, Silvère M.

Published
2019
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35. Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2

Author

Lemmers, Richard JLF, van der Vliet, Patrick J, Balog, Judit, Goeman, Jelle J, Arindrarto, Wibowo, Krom, Yvonne D, Straasheijm, Kirsten R, Debipersad, Rashmie D, Özel, Gizem, Sowden, Janet, Snider, Lauren, Mul, Karlien, Sacconi, Sabrina, van Engelen, Baziel, Tapscott, Stephen J, Tawil, Rabi, and van der Maarel, Silvère M

Published
2018
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36. The FSHD Composite Outcome Measure (FSHD-COM) is Reliable, Valid, and Measures Disease Progression (S7.005)

Author

Eichinger, Katy, primary, McDermott, Michael, additional, Higgs, Kiley, additional, Walker, Michaela, additional, Lewis, Leann, additional, Martens, William, additional, Leung, Doris, additional, Stinson, Nikia, additional, Holzer, Megan M., additional, Sacconi, Sabrina, additional, Garcia, Jeremy, additional, De Paz Benito, Victor, additional, Mul, Karlien, additional, Sansone, Valeria, additional, Carraro, Elena, additional, Becchiati, Stefano, additional, Frisoni, Maria Chiara, additional, Wang, Leo, additional, Kieu, Catherine, additional, Shieh, Perry, additional, Skura, Christy, additional, Elsheikh, Bakri, additional, Kelly, Kristina, additional, Jaworek, Andrea, additional, LoRusso, Samantha, additional, Butterfield, Russell, additional, Wilson, Amelia, additional, McIntyre, Melissa, additional, Johnson, Nicholas, additional, Butler, Amanda, additional, Jones, Aileen, additional, Hayes, Melissa, additional, Baker, Lindsay, additional, Sasidharan, Sandhya, additional, Tawil, Alrabi, additional, and Statland, Jeffrey, additional

Published
2023
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37. Data from the European registry for patients with McArdle disease (EUROMAC): Functional status and social participation.

Author

Karazi, Walaa, primary, Scalco, Renata S., additional, Stemmerik, Mads G., additional, Løkken, Nicoline, additional, Lucia, Alejandro, additional, Santalla, Alfredo, additional, Martinuzzi, Andrea, additional, Vavla, Marinela, additional, Reni, Gianluigi, additional, Toscano, Antonio, additional, Musumeci, Olimpia, additional, Kouwenberg, Carlyn V., additional, Laforêt, Pascal, additional, Millán, Beatriz San, additional, Vieitez, Irene, additional, Siciliano, Gabriele, additional, Kühnle, Enrico, additional, Trost, Rebecca, additional, Sacconi, Sabrina, additional, Durmus, Hacer, additional, Kierdaszuk, Biruta, additional, Wakelin, Andrew, additional, Andreu, Antoni L., additional, Pinós, Tomàs, additional, Marti, Ramon, additional, Quinlivan, Ros, additional, Vissing, John, additional, and Voermans, Nicol C., additional

Published
2023
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38. Role of autoantibody levels as biomarkers in the management of patients with myasthenia gravis : A systematic review and expert appraisal

Author

Meisel, Andreas, Baggi, Fulvio, Behin, Anthony, Evoli, Amelia, Kostera-Pruszczyk, Anna, Mantegazza, Renato, Morales, Raul Juntas, Rostedt Punga, Anna, Sacconi, Sabrina, Schroeter, Michael, Verschuuren, Jan, Crathorne, Louise, Holmes, Kris, Leite, Maria-Isabel, Meisel, Andreas, Baggi, Fulvio, Behin, Anthony, Evoli, Amelia, Kostera-Pruszczyk, Anna, Mantegazza, Renato, Morales, Raul Juntas, Rostedt Punga, Anna, Sacconi, Sabrina, Schroeter, Michael, Verschuuren, Jan, Crathorne, Louise, Holmes, Kris, and Leite, Maria-Isabel

Abstract

Background and purpose Although myasthenia gravis (MG) is recognized as an immunoglobulin G autoantibody-mediated disease, the relationship between autoantibody levels and disease activity in MG is unclear. We sought to evaluate this landscape through systematically assessing the evidence, testing the impact of predefined variables on any relationship, and augmenting with expert opinion. Methods In October 2020, a forum of leading clinicians and researchers in neurology from across Europe (Expert Forum for Rare Autoantibodies in Neurology in Myasthenia Gravis) participated in a series of virtual meetings that took place alongside the conduct of a systematic literature review (SLR). Results Forty-two studies were identified meeting inclusion criteria. Of these, 10 reported some correlation between a patient's autoantibody level and disease severity. Generally, decreased autoantibody levels (acetylcholine receptor, muscle-specific kinase, and titin) were positively and significantly correlated with improvements in disease severity (Quantitative Myasthenia Gravis score, Myasthenia Gravis Composite score, Myasthenia Gravis Activities of Daily Living score, Myasthenia Gravis Foundation of America classification). Given the limited evidence, testing the impact of predefined variables was not feasible. Conclusions This first SLR to assess whether a correlation exists between autoantibody levels and disease activity in patients with MG has indicated a potential positive correlation, which could have clinical implications in guiding treatment decisions. However, in light of the limited and variable evidence, we cannot currently recommend routine clinical use of autoantibody level testing in this context. For now, patient's characteristics, clinical disease course, and laboratory data (e.g., autoantibody status, thymus histology) should inform management, alongside patient-reported outcomes. We highlight the need for future studies to reach more definitive conclusions on this

Published
2023
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39. Reply to the Letter to the Editor in response to 'Role of autoantibody levels as biomarkers in the management of patients with myasthenia gravis : A systematic review and expert appraisal '

Author

Meisel, Andreas, Baggi, Fulvio, Behin, Anthony, Evoli, Amelia, Kostera-Pruszczyk, Anna, Mantegazza, Renato, Juntas Morales, Raul, Rostedt Punga, Anna, Sacconi, Sabrina, Schroeter, Michael, Verschuuren, Jan, Crathorne, Louise, Holmes, Kris, Leite, Maria-Isabel, Meisel, Andreas, Baggi, Fulvio, Behin, Anthony, Evoli, Amelia, Kostera-Pruszczyk, Anna, Mantegazza, Renato, Juntas Morales, Raul, Rostedt Punga, Anna, Sacconi, Sabrina, Schroeter, Michael, Verschuuren, Jan, Crathorne, Louise, Holmes, Kris, and Leite, Maria-Isabel

Published
2023
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40. Data from the European registry for patients with McArdle disease (EUROMAC):functional status and social participation

Author

Karazi, Walaa, Scalco, Renata S., Stemmerik, Mads G., Løkken, Nicoline, Lucia, Alejandro, Santalla, Alfredo, Martinuzzi, Andrea, Vavla, Marinela, Reni, Gianluigi, Toscano, Antonio, Musumeci, Olimpia, Kouwenberg, Carlyn V, Laforêt, Pascal, Millán, Beatriz San, Vieitez, Irene, Siciliano, Gabriele, Kühnle, Enrico, Trost, Rebecca, Sacconi, Sabrina, Durmus, Hacer, Kierdaszuk, Biruta, Wakelin, Andrew, Andreu, Antoni L, Pinós, Tomàs, Marti, Ramon, Quinlivan, Ros, Vissing, John, Voermans, Nicol C., Karazi, Walaa, Scalco, Renata S., Stemmerik, Mads G., Løkken, Nicoline, Lucia, Alejandro, Santalla, Alfredo, Martinuzzi, Andrea, Vavla, Marinela, Reni, Gianluigi, Toscano, Antonio, Musumeci, Olimpia, Kouwenberg, Carlyn V, Laforêt, Pascal, Millán, Beatriz San, Vieitez, Irene, Siciliano, Gabriele, Kühnle, Enrico, Trost, Rebecca, Sacconi, Sabrina, Durmus, Hacer, Kierdaszuk, Biruta, Wakelin, Andrew, Andreu, Antoni L, Pinós, Tomàs, Marti, Ramon, Quinlivan, Ros, Vissing, John, and Voermans, Nicol C.

Abstract

Background: The European registry for individuals with GSD5 and other muscle glycogenosis (EUROMAC) was launched to register rare muscle glycogenosis in Europe, to facilitate recruitment for research trials and to learn about the phenotypes and disseminate knowledge about the diseases. A network of twenty collaborating partners from eight European countries and the US contributed data on rare muscle glycogenosis in the EUROMAC registry. Methods: Following the initial report on demographics, neuromuscular features and comorbidity (2020), we here present the data on social participation, previous and current treatments (medication, supplements, diet and rehabilitation) and limitations. Furthermore, the following questionnaires were used: Fatigue severity scale (FSS), WHO Disability Assessment Scale (DAS 2.0), health related quality of life (SF36) and International Physical Activity Questionnaire (IPAQ). Results: Of 282 participants with confirmed diagnoses of muscle glycogenosis, 269 had GSD5. Of them 196 (73%) completed all questionnaires; for the others, the data were incomplete. The majority, 180 (67%) were currently working. Previous medical treatments included pain medication (23%) and rehabilitation treatment (60%). The carbohydrate-rich diet was reported to be beneficial for 68%, the low sucrose diet for 76% and the ketogenic diet for 88%. Almost all participants (93%) reported difficulties climbing stairs. The median FSS score was 5.22, indicating severe fatigue. The data from the WHODAS and IPAQ was not of sufficient quality to be interpreted. Conclusions: The EUROMAC registry have provided insight into the functional and social status of participants with GSD5: most participants are socially active despite limitations in physical and daily life activities. Regular physical activity and different dietary approaches may alleviate fatigue and pain.

Published
2023

41. Construction of a Quality of Life Questionnaire for slowly progressive neuromuscular disease

Author

Dany, Antoine, Barbe, Coralie, Rapin, Amandine, Réveillère, Christian, Hardouin, Jean-Benoit, Morrone, Isabella, Wolak-Thierry, Aurore, Dramé, Moustapha, Calmus, Arnaud, Sacconi, Sabrina, Bassez, Guillaume, Tiffreau, Vincent, Richard, Isabelle, Gallais, Benjamin, Prigent, Hélène, Taiar, Redha, Jolly, Damien, Novella, Jean-Luc, and Boyer, François Constant

Published
2015

43. E-Health & Innovation to Overcome Barriers in Neuromuscular Diseases. Report from the 3rd eNMD Congress: Pisa, Italy, 29–30 October 2021

Author

Schirinzi, Erika, Bochicchio, Mario Alessandro, Lochmüller, Hanns, Vissing, John, Jordie-Diaz-Manerae, Evangelista, Teresinha, Plançon, Jean-Philippe, Fanucci, Luca, Marini, Marco, Tonacci, Alessandro, Mancuso, Michelangelo, Segovia-Kueny, Sandrine, Toscano, Antonio, Angelini, Corrado, Schoser, Benedikt, Sacconi, Sabrina, and Siciliano, Gabriele

Abstract

Neuromuscular diseases (NMDs), in their phenotypic heterogeneity, share quite invariably common issues that involve several clinical and socio-economical aspects, needing a deep critical analysis to develop better management strategies. From diagnosis to treatment and follow-up, the development of technological solutions can improve the detection of several critical aspects related to the diseases, addressing both the met and unmet needs of clinicians and patients. Among several aspects of the digital transformation of health and care, this congress expands what has been learned from previous congresses editions on applicability and usefulness of technological solutions in NMDs. In particular the focus on new solutions for remote monitoring provide valuable insights to increase disease-specific knowledge and trigger prompt decision-making. In doing that, several perspectives from different areas of expertise were shared and discussed, pointing out strengths and weaknesses on the current state of the art on topic, suggesting new research lines to advance technology in this specific clinical field.

Published
2024
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44. Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment

Author

Laforêt, Pascal, Inoue, Michio, Goillot, Evelyne, Lefeuvre, Claire, Cagin, Umut, Streichenberger, Nathalie, Leonard-Louis, Sarah, Brochier, Guy, Madelaine, Angeline, Labasse, Clemence, Hedberg-Oldfors, Carola, Krag, Thomas, Jauze, Louisa, Fabregue, Julien, Labrune, Philippe, Milisenda, Jose, Nadaj-Pakleza, Aleksandra, Sacconi, Sabrina, Mingozzi, Federico, Ronzitti, Giuseppe, Petit, François, Schoser, Benedikt, Oldfors, Anders, Vissing, John, Romero, Norma B., Nishino, Ichizo, and Malfatti, Edoardo

Published
2019
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45. Clinical trial readiness to solve barriers to drug development in FSHD (ReSolve): protocol of a large, international, multi-center prospective study

Author

LoRusso, Samantha, Johnson, Nicholas E., McDermott, Michael P., Eichinger, Katy, Butterfield, Russell J., Carraro, Elena, Higgs, Kiley, Lewis, Leann, Mul, Karlien, Sacconi, Sabrina, Sansone, Valeria A., Shieh, Perry, van Engelen, Baziel, Wagner, Kathryn, Wang, Leo, Statland, Jeffrey M., Tawil, Rabi, and on behalf of the ReSolve Investigators and the FSHD CTRN18

Published
2019
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46. Hyaluronidase‐facilitated subcutaneous immunoglobulin 10% as maintenance therapy for chronic inflammatory demyelinating polyradiculoneuropathy: The ADVANCE‐CIDP 1 randomized controlled trial.

Author

Bril, Vera, Hadden, Robert D. M., Brannagan, Thomas H., Bar, Michal, Chroni, Elisabeth, Rejdak, Konrad, Rivero, Alberto, Andersen, Henning, Latov, Norman, Levine, Todd, Pasnoor, Mamatha, Sacconi, Sabrina, Souayah, Nizar, Anderson‐Smits, Colin, Duff, Kim, Greco, Erin, Hasan, Shabbir, Li, Zhaoyang, Yel, Leman, and Ay, Hakan

Subjects
THERAPEUTIC use of immunoglobulins, DRUG efficacy, IMMUNOGLOBULINS, INTRAVENOUS therapy, CONFIDENCE intervals, TREATMENT duration, HEALTH outcome assessment, HEALTH surveys, RANDOMIZED controlled trials, PLACEBOS, TREATMENT effectiveness, GUILLAIN-Barre syndrome, GLYCOSIDASES, BLIND experiment, QUESTIONNAIRES, DESCRIPTIVE statistics, RESEARCH funding, SUBCUTANEOUS infusions, STATISTICAL sampling, PATIENT safety, EVALUATION
Abstract

Background and Aims: ADVANCE‐CIDP 1 evaluated facilitated subcutaneous immunoglobulin (fSCIG; human immunoglobulin G 10% with recombinant human hyaluronidase) efficacy and safety in preventing chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) relapse. Methods: ADVANCE‐CIDP 1 was a phase 3, double‐blind, placebo‐controlled trial conducted at 54 sites in 21 countries. Eligible adults had definite or probable CIDP and adjusted Inflammatory Neuropathy Cause and Treatment (INCAT) disability scores of 0–7 (inclusive), and received stable intravenous immunoglobulin (IVIG) for ≥12 weeks before screening. After stopping IVIG, patients were randomized 1:1 to fSCIG 10% or placebo for 6 months or until relapse/discontinuation. fSCIG 10% was administered at the same dose (or matching placebo volume) and interval as pre‐randomization IVIG. The primary outcome was patient proportion experiencing CIDP relapse (≥1‐point increase in adjusted INCAT score from pre‐subcutaneous treatment baseline) in the modified intention‐to‐treat population. Secondary outcomes included time to relapse and safety endpoints. Results: Overall, 132 patients (mean age 54.4 years, 56.1% male) received fSCIG 10% (n = 62) or placebo (n = 70). CIDP relapse was reduced with fSCIG 10% versus placebo (n = 6 [9.7%; 95% confidence interval 4.5%, 19.6%] vs n = 22 [31.4%; 21.8%, 43.0%], respectively; absolute difference: −21.8% [−34.5%, −7.9%], p =.0045). Relapse probability was higher with placebo versus fSCIG 10% over time (p =.002). Adverse events (AEs) were more frequent with fSCIG 10% (79.0% of patients) than placebo (57.1%), but severe (1.6% vs 8.6%) and serious AEs (3.2% vs 7.1%) were less common. Interpretation: fSCIG 10% more effectively prevented CIDP relapse than placebo, supporting its potential use as maintenance CIDP treatment. [ABSTRACT FROM AUTHOR]

Published
2023
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47. Characteristics of Patients With Late-Onset Pompe Disease in France.

Author

Lefeuvre, Claire, De Antonio, Marie, Bouhour, Francoise, Tard, Celine, Salort-Campana, Emmanuelle, Lagrange, Emmeline, Behin, Anthony, Sole, Guilhem, Noury, Jean-Baptiste, Sacconi, Sabrina, Magot, Armelle, Nadaj-Pakleza, Aleksandra, Lacour, Arnaud, Beltran, Stephane, Spinazzi, Marco, Cintas, Pascal, Renard, Dimitri, Michaud, Maud, Bedat-Millet, Anne-Laure, and Prigent, Helene

Published
2023
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48. Reply to the Letter to the Editor in response to “Autoantibody levels as biomarkers of disease activity in management of myasthenia gravis: A systematic review and expert appraisal”

Author

Meisel, Andreas, primary, Baggi, Fulvio, additional, Behin, Anthony, additional, Evoli, Amelia, additional, Kostera‐Pruszczyk, Anna, additional, Mantegazza, Renato, additional, Morales, Raul Juntas, additional, Punga, Anna Rostedt, additional, Sacconi, Sabrina, additional, Schroeter, Michael, additional, Verschuuren, Jan, additional, Crathorne, Louise, additional, Holmes, Kris, additional, and Leite, Maria‐Isabel, additional

Published
2023
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