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7. Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe disease

Author

Bassez, G., Bedat-Millet, A.-L., Behin, A., Eymard, B., Leonard-Louis, S., Stojkovic, T., Canal, A., Decostre, V., Bouhour, F., Boyer, F., Caillaud, C., Castaing, Y., Chapon, F., Cintas, P., Durieu, I., Echaniz-Laguna, A., Feasson, L., Ferrer, X., Froissart, R., Piraud, M., Germain, D., Benistan, K., Guffon-Fouilhoux, N., Journel, H., Labauge, P., Levy, A., Magot, A., Péréon, Y., Minot-Myhié, M.-C., Nadaj-Pakleza, A., Nathier, C., Pellegrini, N., Petiot, P., Lofaso, F., Dutry, A., Renard, D., Sacconi, S., Desnuelle, C., Salort-Campana, E., Pouget, J., Tiffreau, V., Vincent, D., Zagnoli, F., Papadopoulos, Constantinos, Orlikowski, David, Prigent, Hélène, Lacour, Arnaud, Tard, Céline, Furby, Alain, Praline, Julien, Solé, Guilhem, Hogrel, Jean-Yves, De Antonio, Marie, Semplicini, Claudio, Deibener-Kaminsky, Joelle, Kaminsky, Pierre, Eymard, Bruno, Taouagh, Nadjib, Perniconi, Barbara, Hamroun, Dalil, and Laforêt, Pascal

Published
2017
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8. Un registre de 1092 patients atteints de myopathies inflammatoires : un atout précieux pour la recherche clinique et translationnelle

Author

Gallay, L., Lessard, L., Maucort-Boulch, D., Fabien, N., Hot, A., Schaeffer, L., Bouhour, F., Svahn, J., Pegat, A., Petiot, P., Coutant, F., Belot, A., Durieu, I., Reynaud, Q., Sève, P., Jamilloux, Y., Cottin, V., Traclet, J., Ahmad, K., Fouillet-Desjonqueres, M., Rouvet, I., Fenouil, T., and Streichenberger, N.

Published
2024
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9. Development and validation of a motor function classification in patients with neuromuscular disease: The NM-Score

Author

Le Flem, A., Barrière, A., Rouyer, A.P., Fontaine, S., Vadot, J.-P., Luc Pupat, E., Chartier, Y., Vincent-Genod, D., Girardot, F., Manel, V., Aubert, F., Rode, G., Denis, D., Germa, V., Quijano, S., Pelligrini, N., d’Anjou, M.C., Féasson, L., Chabrier, S., Furby, A., Goyet, C., Delmas, M.C., Campech, M., Robert, F., Hovart, H., Cuisset, J.-M., Badoil, I., Fafin, C., Tanant, V., Sacconi, S., Gayraud, J.-P., Carpentier, A., Vanderschueren, S., Bourdeauducq, I., Salicio-Castillo, D., Cobo, A.M., Commare, M.C., Farigoule, V., Huzar, C., Berger, B., Humbertclaude, V., Rumeau, F., Viehweger, E., Payet-Laury, C., Penisson-Besnier, I., Kinet, V., Laridant, D., Spehrs-Ciaffi, V., Bassez, G., Goemans, N., Pichancourt, D., Jezequel, L., Vedrenne, N., Vuillerot, C., Rippert, P., Roche, S., Bérard, C., Margirier, F., de Lattre, C., Poirot, I., Berruyer, A., Tiffreau, V., Fournier-Mehouas, M., Bouhour, F., Urtizberea, J.-A., Renders, A., and Ecochard, R.

Published
2013
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11. POS0862 INAUGURAL DROPPED HEAD SYNDROME AND CAMPTOCORMIA IN INFLAMMATORY MYOPATHIES

Author

Robert, M., primary, Gallay, L., additional, Petiot, P., additional, Fenouil, T., additional, Lessard, L., additional, Perard, L., additional, Svahn, J., additional, Fiscus, J., additional, Fabien, N., additional, Bouhour, F., additional, Maucort-Boulch, D., additional, Durieu, I., additional, Coury-Lucas, F., additional, Streichenberger, N., additional, and Hot, A., additional

Published
2022
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14. CHANNELOPATHIES AND RELATED DISORDERS

Author

Vicart, S., primary, Franques, J., additional, Bouhour, F., additional, Magot, A., additional, Péréon, Y., additional, Sacconi, S., additional, Nadaj-Pakleza, A., additional, Behin, A., additional, Zahr, N., additional, Hezode, M., additional, Fournier, E., additional, Payan, C., additional, Lacomblez, L., additional, and Fontaine, B., additional

Published
2021
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17. Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial

Author

Diaz-Manera, J, Kishnani, PS, Kushlaf, H, Ladha, S, Mozaffar, T, Straub, V, Toscano, A, Van der Ploeg, AT, Berger, KI, Clemens, PR, Chien, YH, Day, JW, Illarioshkin, S, Roberts, M, Attarian, S, Borges, JL, Bouhour, F, Choi, YC, Erdem-Ozdamar, S, Goker-Alpan, O, Kostera-Pruszczyk, A, Haack, KA, Hug, C, Huynh-Ba, O, Johnson, J, Thibault, N, Zhou, TY, Dimachkie, MM, and Schoser, B

Abstract

Background Pompe disease is a rare, progressive neuromuscular disorder caused by deficiency of acid ti-glucosidase (GAA) and accumulation of lysosomal glycogen. We assessed the safety and efficacy of avalglucosidase alfa, a recombinant human GAA enzyme replacement therapy specifically designed for enhanced mannose-6-phosphatereceptor targeting and enzyme uptake aimed at increased glycogen clearance, compared with the current approved standard of care, alglucosidase alfa, in patients with late -onset Pompe disease. Methods We did a randomised, double-blind, phase 3 trial at 55 sites in 20 countries. We enrolled individuals (aged years) with enzymatically confirmed late-onset Pompe disease who had never received treatment. We used a centralised treatment allocation system to randomly allocate participants to either avalglucosidase alfa or alglucosidase alfa. Participants and investigators were unaware of their treatment allocation. The primary outcome measure was change from baseline to week 49 in upright forced vital capacity percent (FVC%) predicted. We used a hierarchical fixed sequential testing strategy, whereby non -inferiority of avalglucosidase alfa compared with alglucosidase alfa was assessed first, with a non-inferiority margin of 1.1. If non-inferiority was seen, then superiority was tested with a 5% significance level. The key secondary objective was effect on functional endurance, measured by the 6-minute walk test (6MWT). Safety was assessed, including treatment-emergent adverse events and infusion-associated reactions. The modified intent-to -treat population was the primary analysis population for all efficacy analyses. The safety population was the analysis population for safety analyses. This trial is registered with ClinicalTrials.gov, NCT02782741. We report results of the 49 -week primary analysis period. Findings Between Nov 2, 2016, and March 29, 2019, 100 participants were randomly allocated avalglucosidase alfa (n=51) or alglucosidase alfa (n=49). Treatment with avalglucosidase alfa resulted in a least-squares mean improvement in upright FVC% predicted of 2.89% (S E 0.88) compared with 0.46% (0.93) with alglucosidase alfa at week 49 (difference 2.43% [95% CI 0.13 to 4.99]). Non-inferiority was shown because the lower bound of the 95% CI for the difference far exceeded the predefined non -inferiority margin but did not exclude 0 (p=0. 0074). Superiority was not reached (p=0. 063), so formal testing was stopped, as per the testing hierarchy. Improvements were also seen in the 6MWT with avalglucosidase alfa compared with alglucosidase alfa, with greater increases in distance covered (difference 3001 in [95% CI 1.33 to 58.69]) and percent predicted (4.71% [0. 25 to 9.17]). Treatment-emergent adverse events potentially related to treatment were reported in 23 (45%) of 51 participants in the avalglucosidase alfa group and in 24 (49%) of 49 in the alglucosidase alfa group, and infusion-associated reactions were reported in 13 (26%) participants in the avalglucosidase alfa group and 16 (33%) in the alglucosidase alfa group. Of the five trial withdrawals, all in the alglucosidase alfa group, four were due to adverse events, including two infusion-associated reactions. Serious treatment-emergent adverse events were reported in eight (16%) participants who received avalglucosidase alfa and in 12 (25%) who received alglucosidase alfa. One participant treated with alglucosidase alfa died because of acute myocardial infarction determined to be unrelated to treatment. Antidrug antibody responses were similar in both groups. High and persistent titres W.2 800) and neutralising antibodies were more common with alglucosidase alfa (in 16 [33%] participants) than with avalglucosidase alfa (ten [20%]). Interpretation We consider that this study provides evidence ofclinically meaningful improvement with avalglucosida se alfa therapy over alglucosidase alfa in respiratory function, ambulation, and functional endurance, with no new safety signals reported. An open-label extended -treatment period is ongoing to confirm the long-term safety and efficacy of avalglucosidase alfa, with the aim for this therapy to become the new standard treatment in late-onset Pompe disease.

Published
2021

19. Long-term benefit of enzyme replacement therapy with alglucosidase alfa in adults with Pompe disease: prospective analysis from the French Pompe Registry

Author

Semplicini, C., de Antonio, M., Taouagh, N., Béhin, A., Bouhour, F., Echaniz-Laguna, A., Magot, A., Nadaj-Pakleza, A., Orlikowski, D., Sacconi, S., Salort-Campana, E., Solé, G., Tard, Celine, Zagnoli, F., Jean-Yves, H., Hamroun, D., Laforêt, P., Attarian, S., Aubé-Nathier, A. C., Arrassi, A., Bassez, G., Bedat-Millet, A. L., Bouibede, F., Boyer, F. C., Caillaud, C., Canal, A., Carlier, R. Y., Chanson, J. B., Chapon, F., Cintas, P., Deibener-Kaminsky, J., Demurger, F., Desnuelle, C., Durieu, I., Eymard, B., Feasson, L., Fournier, M., Froissart, R., Furby, A., Garcia, P. Y., Germain, D. P., Ghorab, K., Morales, R. J., Krim, E., Labauge, P., Lacour, A., Lagrange, E., Lefeuvre, C., Leguy-Seguin, V., Leonard-Louis, S., Magy, L., Masseau, A., Michaud, M., Minot-Myhié, M. C., Nicolas, G., Nollet, S., Not, A., Noury, J. B., Ollivier, G., Péréon, Y., Perez, Thierry, Perniconi, B., Piraud, M., Petiot, P., Pouget, J., Praline, J., Prigent, H., Renard, D., Spinazzi, M., Stojkovic, T., Taithe, F., Tiffreau, Vincent, Vincent, D., Lille Neurosciences & Cognition - U 1172 (LilNCog), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Unité de Recherche Pluridisciplinaire Sport, Santé, Société (URePSSS) - ULR 7369 - ULR 4488 (URePSSS), and Université d'Artois (UA)-Université du Littoral Côte d'Opale (ULCO)-Université de Lille

Subjects
Adult, Male, Pediatrics, medicine.medical_specialty, Registry, alglucosidase alfa, Adolescent, [SDV]Life Sciences [q-bio], Walk Test, Disease, Sitting, 03 medical and health sciences, FEV1/FVC ratio, Young Adult, Glycogen storage disease type II, Genetics, medicine, Humans, Respiratory function, Prospective Studies, Registries, Child, Alglucosidase alfa, Genetics (clinical), 030304 developmental biology, Aged, 0303 health sciences, late onset Pompe disease, business.industry, 030305 genetics & heredity, alpha-Glucosidases, Enzyme replacement therapy, Middle Aged, medicine.disease, Respiratory Function Tests, Treatment Outcome, Ceiling effect, Female, France, business, medicine.drug, enzyme replacement therapy
Abstract

Despite a wide clinical spectrum, the adult form of Pompe disease is the most common one, and represents more than 90% of diagnosed patients in France. Since the marketing of enzyme replacement therapy (alglucosidase alfa, Myozyme), all reports to date in adults demonstrated an improvement of the walking distance, and a trend toward stabilization of respiratory function, but the majority of these studies were less than 5 years of duration. We report here the findings from 158 treated patients included in the French Pompe Registry, who underwent regular clinical assessments based on commonly used standardized tests (6-minute walking test, MFM scale, sitting vital capacity, MIP and MEP). For longitudinal analyses, the linear mixed effects models were used to assess trends in primary endpoints over time under ERT. A two-phase model better described the changes in distance traveled in the 6-minute walk test and MFM. 6MWT showed an initial significant increase (1.4% ± 0.5/year) followed by a progressive decline (-2.3%/year), with a cut-off point at 2.2 years. A similar pattern was observed in total MFM score (6.6% ± 2.3/year followed by a - 1.1%/year decline after 0.5 years). A single-phase decline with a slope of -0.9 ± 0.1%/year (P < .001) was observed for FVC, and MEP remained stable over the all duration of follow-up. This study provides further evidence that ERT improves walking abilities and likely stabilizes respiratory function in adult patients with Pompe disease, with a ceiling effect for the 6MWT in the first 3 years of treatment.

Published
2020
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23. Self-report questionnaire vs. clinical evaluation form in the French National Registry on facioscapulohumeral dystrophy: a statistical comparison

Author

Benoit, S., Stalens, C., Villa, L., Guien, Celine, Rabarimeriarijaona, S., Bernard, R., Cintas, P., Sole, G., Tiffreau, V., Echaniz-Laguna, A., Magot, A., Morales, R. J., Bombart, V., Jacquin Piques, Agnès, Nadaj-Pakleza, A., Bouhour, F., Chapon, F., Eymard, B., Ghorab, K., Beroud, Christophe, Sacconi, S., French Fshd Registry, ., COMUE Université Côte d'Azur (2015-2019) (COMUE UCA), Association française contre les myopathies (AFM-Téléthon), Centre Hospitalier Universitaire de Nice (CHU Nice), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital de la Timone [CHU - APHM] (TIMONE), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Centre Hospitalier Universitaire de Lille (CHU de Lille), Centre hospitalier universitaire de Nantes (CHU Nantes), Hôpital Hôtel-Dieu [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Gui de Chauliac [CHU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Département de neurologie [Montpellier], Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [CHU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université de Montpellier (UM), Centre Hospitalier Universitaire de Reims (CHU Reims), Centre des Sciences du Goût et de l'Alimentation [Dijon] (CSGA), Institut National de la Recherche Agronomique (INRA)-Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Université Bourgogne Franche-Comté [COMUE] (UBFC), Centre Hospitalier Universitaire de Strasbourg (CHU de Strasbourg ), Hospices Civils de Lyon (HCL), CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN), Mobilités : Vieillissement, Pathologie, Santé (COMETE), Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut National de la Santé et de la Recherche Médicale (INSERM), Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Service de Neurologie [CHU Limoges], CHU Limoges, Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut de Biologie Valrose (IBV), Université Nice Sophia Antipolis (1965 - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UCA), AFM-Telethon, AFM Téléthon, Partenaires INRAE, Aix Marseille Université (AMU), CHU Toulouse [Toulouse], Centre Hospitalier Universitaire Gui de Chauliac (CHU Gui de Chauliac), Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU), Centre de Mathématiques et de Leurs Applications (CMLA), École normale supérieure - Cachan (ENS Cachan)-Centre National de la Recherche Scientifique (CNRS), Direction des Applications Militaires (DAM), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), CHU Bordeaux [Bordeaux], Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Côte d'Azur (UCA)-Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU), ProdInra, Migration, and Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [Montpellier]-Université de Montpellier (UM)

Subjects
[SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], ComputingMilieux_MISCELLANEOUS, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract

5th Congress of the European-Academy-of-Neurology (EAN), Oslo, NORWAY, JUN 29-JUL 02, 2019; International audience

Published
2019
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25. Prospective study of the additional benefit of plexus magnetic resonance imaging in the diagnosis of chronic inflammatory demyelinating polyneuropathy

Author

Jomier, F., primary, Bousson, V., additional, Viala, K., additional, Péréon, Y., additional, Magot, A., additional, Cauquil, C., additional, Bouhour, F., additional, Vial, C., additional, Bedat‐Millet, A.‐L., additional, Taithe, F., additional, Bresch, S., additional, Siri, A., additional, Kubis, N., additional, and Lozeron, P., additional

Published
2019
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28. Current French Pompe Prevalence Study (French PoPS)

Author

Sacconi, S., Piraud, M., Echaniz-Laguna, A., Tranchant, C., Boutte, C., Nadaj, A., Penisson-Besnier, I., Bouhour, F., Gervais, H., Petiot, P., Manel, V., Gallard, J., Salort-Campana, E., Solé, G., Pages, M., Echenne, B., Fourquet, I., Lacour, A., Feasson, L., Magot, A., Chabrol, B., Chapon, F., Clavelou, P., Martinez, E., Baëz, E., Laforêt, P., Pouget, J., and Desnuelle, C.

Published
2011
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29. Prospective study of the additional benefit of plexus magnetic resonance imaging in the diagnosis of chronic inflammatory demyelinating polyneuropathy.

Author

Jomier, F., Bousson, V., Viala, K., Péréon, Y., Magot, A., Cauquil, C., Bouhour, F., Vial, C., Bedat‐Millet, A.‐L., Taithe, F., Bresch, S., Siri, A., Kubis, N., and Lozeron, P.

Subjects
CHRONIC inflammatory demyelinating polyradiculoneuropathy, MAGNETIC resonance imaging, MOTOR neuron diseases, LONGITUDINAL method, MAGNETIC structure
Abstract

Background and purpose: Hypertrophy/signal hyperintensity and/or gadolinium enhancement of plexus structures on magnetic resonance imaging (MRI) are observed in two‐thirds of cases of typical chronic inflammatory demyelinating polyneuropathy (CIDP). The objective of our study was to determine the additional benefit of plexus MRI in patients referred to tertiary centers with baseline clinical and electrophysiological characteristics suggestive of typical or atypical CIDP. Methods: A total of 28 consecutive patients with initial suspicion of CIDP were recruited in nine centers and followed for 2 years. Plexus MRI data from the initial assessment were reviewed centrally. Physicians blinded to the plexus MRI findings established the final diagnosis (CIDP or neuropathy of another cause). The proportion of patients with abnormal MRI was analyzed in each group. Results: Chronic inflammatory demyelinating polyneuropathy was confirmed in 14 patients (50%), as were sensorimotor CIDP (n = 6), chronic immune sensory polyradiculoneuropathy (n = 2), motor CIDP (n = 1) and multifocal acquired demyelinating sensory and motor neuropathy (n = 5). A total of 37 plexus MRIs were performed (17 brachial, 19 lumbosacral and 8 in both localizations). MRI was abnormal in 5/37 patients (14%), all of whom were subsequently diagnosed with CIDP [5/14(36%)], after an atypical baseline presentation. With plexus MRI results masked, non‐invasive procedures confirmed the diagnosis of CIDP in all but one patient [1/14 (7%)]. Knowledge of the abnormal MRI findings in the latter could have prevented nerve biopsy being performed. Conclusion: Systematic plexus MRI in patients with initially suspected CIDP provides little additional benefit in confirming the diagnosis of CIDP. [ABSTRACT FROM AUTHOR]

Published
2020
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30. Long-term exposure to Myozyme results in a decrease of anti-drug antibodies in late-onset Pompe disease patients

Author

Masat, Elisa, Laforêt, Pascal, De Antonio, Marie, Corre, Guillaume, Perniconi, Barbara, Taouagh, Nadjib, Mariampillai, Kuberaka, Amelin, Damien, Mauhin, Wladimir, Hogrel, Jean-Yves, Caillaud, Catherine, Ronzitti, Giuseppe, Puzzo, Francesco, Kuranda, Klaudia, Colella, Pasqualina, Mallone, Roberto, Benveniste, Olivier, Mingozzi, Federico, Bassez, G., Bedat-Millet, A. L., Behin, A., Eymard, B., Leonard-Louis, S., Stojkovic, T., Canal, A., Decostre, V., Bouhour, F., Boyer, F., Castaing, Y., Chapon, F., Cintas, P., Durieu, I., Echaniz-Laguna, A., Feasson, L., Furby, A., Hamroun, D., Ferrer, X., Solé, G., Froissart, R., Piraud, M., Germain, D., Benistan, K., Guffon-Fouilhoux, N., Journel, H., Labauge, P., Lacour, A., Levy, A., Magot, A., Péréon, Y., Minot-Myhié, M. -C., Nadaj-Pakleza, A., Nathier, C., Orlikowski, D., Pellegrini, N., Petiot, P., Praline, J., Lofaso, F., Prigent, H., Dutry, A., Renard, D., Sacconi, S., Desnuelle, C., Salort-Campana, E., Pouget, J., Tiffreau, V., Vincent, D., Zagnoli, F., Centre de recherche en myologie, Université Pierre et Marie Curie - Paris 6 (UPMC)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut de Myologie, Université Pierre et Marie Curie - Paris 6 (UPMC)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre de Recherche des Cordeliers (CRC), Université Paris Diderot - Paris 7 (UPD7)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Généthon, CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de biochimie métabolique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de diabétologie [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Université Pierre et Marie Curie - Paris 6 (UPMC)-École Pratique des Hautes Études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre National de la Recherche Scientifique ( CNRS ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Association française contre les myopathies ( AFM-Téléthon ) -Université Pierre et Marie Curie - Paris 6 ( UPMC ), Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Assistance publique - Hôpitaux de Paris (AP-HP)-Association française contre les myopathies ( AFM-Téléthon ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Centre de Recherche des Cordeliers ( CRC ), Université Paris Diderot - Paris 7 ( UPD7 ) -École pratique des hautes études ( EPHE ) -Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), GENETHON, Genethon, DHUI2B, CHU Pitié-Salpêtrière [APHP], CHU Necker - Enfants Malades [AP-HP]-Assistance publique - Hôpitaux de Paris (AP-HP), Institut Cochin ( UM3 (UMR 8104 / U1016) ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Cochin [AP-HP], Université Pierre et Marie Curie - Paris 6 [UPMC], CHU Necker - Enfants Malades [AP-HP], Hôpital Cochin [AP-HP], Hôpital Henri Mondor, CHU Rouen, Hôpital neurologique et neurochirurgical Pierre Wertheimer [CHU - HCL], Centre Hospitalier Universitaire de Reims [CHU Reims], CHU de Bordeaux Pellegrin [Bordeaux], CHU Caen, Centre d'investigation clinique de Toulouse [CIC 1436], Centre Hospitalier Lyon Sud [CHU - HCL] [CHLS], Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] [CHU ST-E], CHU Montpellier, CHU Bordeaux [Bordeaux], Hôpital de l'Hôtel Dieu [CHU-HCL], Centre Hospitalier Régional Universitaire [Lille] [CHRU Lille], Centre hospitalier universitaire de Nantes [CHU Nantes], CHU Pontchaillou [Rennes], Centre Hospitalier Universitaire d'Angers [CHU Angers], Hôpital Raymond Poincaré [AP-HP], Hôpital de la Croix-Rousse [CHU - HCL], Centre Hospitalier Régional Universitaire de Tours [CHRU Tours], Centre Hospitalier Universitaire de Nice [CHU Nice], Hôpital de la Timone [CHU - APHM] [TIMONE], Unité de Recherche Pluridisciplinaire Sport, Santé, Société (URePSSS) - ULR 7369 - ULR 4488 [URePSSS], Hôpital d'Instruction des Armées Clermont Tonnerre, Université Pierre et Marie Curie - Paris 6 (UPMC)-École pratique des hautes études (EPHE), and HAL UPMC, Gestionnaire

Subjects
0301 basic medicine, Adult, Male, Chemokine, congenital, hereditary, and neonatal diseases and abnormalities, [SDV.IMM] Life Sciences [q-bio]/Immunology, T cell, T-Lymphocytes, Antibodies, Article, 03 medical and health sciences, 0302 clinical medicine, Immune system, Medicine, [ SDV.IMM ] Life Sciences [q-bio]/Immunology, Humans, Enzyme Replacement Therapy, Age of Onset, Aged, [SDV.MHEP.EM] Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, Multidisciplinary, biology, business.industry, Glycogen Storage Disease Type II, Immunogenicity, Case-control study, Antibody titer, nutritional and metabolic diseases, alpha-Glucosidases, Enzyme replacement therapy, Dendritic Cells, [ SDV.MHEP.EM ] Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, Middle Aged, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, 3. Good health, 030104 developmental biology, medicine.anatomical_structure, Treatment Outcome, Case-Control Studies, Immunoglobulin G, Immunology, biology.protein, Interleukin-2, [SDV.IMM]Life Sciences [q-bio]/Immunology, Female, Antibody, business, 030217 neurology & neurosurgery
Abstract

Immunogenicity of recombinant human acid-alpha glucosidase (rhGAA) in enzyme replacement therapy (ERT) is a safety and efficacy concern in the management of late-onset Pompe disease (LOPD). However, long-term effects of ERT on humoral and cellular responses to rhGAA are still poorly understood. To better understand the impact of immunogenicity of rhGAA on the efficacy of ERT, clinical data and blood samples from LOPD patients undergoing ERT for >4 years (n = 28) or untreated (n = 10) were collected and analyzed. In treated LOPD patients, anti-rhGAA antibodies peaked within the first 1000 days of ERT, while long-term exposure to rhGAA resulted in clearance of antibodies with residual production of non-neutralizing IgG. Analysis of T cell responses to rhGAA showed detectable T cell reactivity only after in vitro restimulation. Upregulation of several cytokines and chemokines was detectable in both treated and untreated LOPD subjects, while IL2 secretion was detectable only in subjects who received ERT. These results indicate that long-term ERT in LOPD patients results in a decrease in antibody titers and residual production of non-inhibitory IgGs. Immune responses to GAA following long-term ERT do not seem to affect efficacy of ERT and are consistent with an immunomodulatory effect possibly mediated by regulatory T cells.

Published
2016
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31. Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe disease

Author

Papadopoulos, Constantinos, primary, Orlikowski, David, additional, Prigent, Hélène, additional, Lacour, Arnaud, additional, Tard, Céline, additional, Furby, Alain, additional, Praline, Julien, additional, Solé, Guilhem, additional, Hogrel, Jean-Yves, additional, De Antonio, Marie, additional, Semplicini, Claudio, additional, Deibener-Kaminsky, Joelle, additional, Kaminsky, Pierre, additional, Eymard, Bruno, additional, Taouagh, Nadjib, additional, Perniconi, Barbara, additional, Hamroun, Dalil, additional, Laforêt, Pascal, additional, Bassez, G., additional, Bedat-Millet, A.-L., additional, Behin, A., additional, Eymard, B., additional, Leonard-Louis, S., additional, Stojkovic, T., additional, Canal, A., additional, Decostre, V., additional, Bouhour, F., additional, Boyer, F., additional, Caillaud, C., additional, Castaing, Y., additional, Chapon, F., additional, Cintas, P., additional, Durieu, I., additional, Echaniz-Laguna, A., additional, Feasson, L., additional, Ferrer, X., additional, Froissart, R., additional, Piraud, M., additional, Germain, D., additional, Benistan, K., additional, Guffon-Fouilhoux, N., additional, Journel, H., additional, Labauge, P., additional, Levy, A., additional, Magot, A., additional, Péréon, Y., additional, Minot-Myhié, M.-C., additional, Nadaj-Pakleza, A., additional, Nathier, C., additional, Pellegrini, N., additional, Petiot, P., additional, Lofaso, F., additional, Dutry, A., additional, Renard, D., additional, Sacconi, S., additional, Desnuelle, C., additional, Salort-Campana, E., additional, Pouget, J., additional, Tiffreau, V., additional, Vincent, D., additional, and Zagnoli, F., additional

Published
2017
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34. Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution.

Author

Deconinck, Nicolas, Richard, P., Allamand, Valérie, Behin, A, Lafôret, P, Ferreiro, A, de Becdelievre, A, Ledeuil, C, Gartioux, C, Nelson, I, Carlier, Robert Yves, Carlier, P, Wahbi, K, Romero, N, Zabot, M T, Bouhour, F, Tiffreau, V, Lacour, A, Eymard, B, Stojkovic, Tanya, Deconinck, Nicolas, Richard, P., Allamand, Valérie, Behin, A, Lafôret, P, Ferreiro, A, de Becdelievre, A, Ledeuil, C, Gartioux, C, Nelson, I, Carlier, Robert Yves, Carlier, P, Wahbi, K, Romero, N, Zabot, M T, Bouhour, F, Tiffreau, V, Lacour, A, Eymard, B, and Stojkovic, Tanya

Abstract

Mutations in one of the 3 genes encoding collagen VI (COLVI) are responsible for a group of heterogeneous phenotypes of which Bethlem myopathy (BM) represents the milder end of the spectrum. Genotype-phenotype correlations and long-term follow-up description in BM remain scarce., info:eu-repo/semantics/published

Published
2015

35. Sporadic late-onset nemaline myopathy with MGUS: Long-term follow-up after melphalan and SCT

Author

Voermans, N.C., Benveniste, O., Minnema, M.C., Lokhorst, H., Lammens, M., Meersseman, W., Delforge, M., Kuntzer, T., Novy, J., Pabst, T., Bouhour, F., Romero, N., Leblond, V., Bergh, P., Vekemans, M.C., Engelen, B.G.M. van, Eymard, B., Voermans, N.C., Benveniste, O., Minnema, M.C., Lokhorst, H., Lammens, M., Meersseman, W., Delforge, M., Kuntzer, T., Novy, J., Pabst, T., Bouhour, F., Romero, N., Leblond, V., Bergh, P., Vekemans, M.C., Engelen, B.G.M. van, and Eymard, B.

Abstract

Item does not contain fulltext, OBJECTIVE: Sporadic late-onset nemaline myopathy (SLONM) is a rare, late-onset myopathy that progresses subacutely. If associated with a monoclonal gammopathy of unknown significance (MGUS), the outcome is unfavorable: the majority of these patients die within 1 to 5 years of respiratory failure. This study aims to qualitatively assess the long-term treatment effect of high-dose melphalan (HDM) followed by autologous stem cell transplantation (SCT) in a series of 8 patients with SLONM-MGUS. METHODS: We performed a retrospective case series study (n = 8) on the long-term (1-8 years) treatment effect of HDM followed by autologous SCT (HDM-SCT) on survival, muscle strength, and functional capacities. RESULTS: Seven patients showed a lasting moderate-good clinical response, 2 of them after the second HDM-SCT. All of them had a complete, a very good partial, or a partial hematologic response. One patient showed no clinical or hematologic response and died. CONCLUSIONS: This case series shows the positive effect of HDM-SCT in this rare disorder. Factors that may portend an unfavorable outcome are a long disease course before the hematologic treatment and a poor hematologic response. Age at onset, level and type of M protein (kappa vs lambda), and severity of muscle weakness were not associated with a specific outcome. CLASSIFICATION OF EVIDENCE: This study provides Class IV evidence that for patients with SLONM-MGUS, HDM-SCT increases the probability of survival and functional improvement.

Published
2014

36. [Chronic inflammatory demyelinating polyneuropathy and sarcoidosis: fortuitous association?]

Author

Ducray F, Costedoat-Chalumeau N, Bouhour F, Rousset H, and Vial C

Subjects
Adult, Male, Polyradiculoneuropathy, Chronic Inflammatory Demyelinating, Sarcoidosis, Electromyography, Recurrence, Electrodiagnosis, Anti-Inflammatory Agents, Humans, Immunoglobulins, Intravenous, Steroids
Abstract

We report the case of a 36-year-old-man who first presented two relapses of chronic inflammatory demyelinating polyneuropathy (CIDP) before a diagnosis of sarcoidosis was made. He subsequently presented two combined relapses of CIDP and sarcoidosis. Each time, the outcome was favorable after treatment with intravenous immunglobulins and steroids. The possible relationship between CIDP and sarcoidosis is discussed.

Published
2007

37. Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution

Author

Deconinck, N., primary, Richard, P., additional, Allamand, V., additional, Behin, A., additional, Laforet, P., additional, Ferreiro, A., additional, de Becdelievre, A., additional, Ledeuil, C., additional, Gartioux, C., additional, Nelson, I., additional, Carlier, R. Y., additional, Carlier, P., additional, Wahbi, K., additional, Romero, N., additional, Zabot, M. T., additional, Bouhour, F., additional, Tiffreau, V., additional, Lacour, A., additional, Eymard, B., additional, and Stojkovic, T., additional

Published
2014
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38. G.O.28

Author

Voermans, N.C., primary, Benveniste, O., additional, Minnema, M., additional, Lokhorst, H., additional, Lammens, M., additional, Meersseman, W., additional, Delforge, M., additional, Kuntzer, T., additional, Novy, J., additional, Pabst, T., additional, Bouhour, F., additional, Romero, N., additional, Leblond, V., additional, Van den Bergh, P., additional, Vekemans, M.C., additional, Engelen, B., additional, and Eymard, B., additional

Published
2014
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43. Development and validation of a motor function classification in patients with neuromuscular disease: the NM-score.

Author

UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Centre de référence neuromusculaire, UCL - (SLuc) Service de médecine physique et de réadaptation motrice, Vuillerot, C, Rippert, P, Roche, S, Bérard, C, Margirier, F, de Lattre, C, Poirot, I, Berruyer, A, Tiffreau, V, Fournier-Mehouas, M, Bouhour, F, Urtizberea, J-A, Renders, Anne, Ecochard, R, Le groupe d’étude NM-Score, Kinet, Virginie, Laridant, Dominique, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Centre de référence neuromusculaire, UCL - (SLuc) Service de médecine physique et de réadaptation motrice, Vuillerot, C, Rippert, P, Roche, S, Bérard, C, Margirier, F, de Lattre, C, Poirot, I, Berruyer, A, Tiffreau, V, Fournier-Mehouas, M, Bouhour, F, Urtizberea, J-A, Renders, Anne, Ecochard, R, Le groupe d’étude NM-Score, Kinet, Virginie, and Laridant, Dominique

Abstract

To develop a classification for neuromuscular disease patients in each of the three motor function domains (D1: standing and transfers; D2: axial and proximal function; D3: distal function).

Published
2013

44. Development and validation of a motor function classification in patients with neuromuscular disease: The NM-Score

Author

Vuillerot, C., primary, Rippert, P., additional, Roche, S., additional, Bérard, C., additional, Margirier, F., additional, de Lattre, C., additional, Poirot, I., additional, Berruyer, A., additional, Tiffreau, V., additional, Fournier-Mehouas, M., additional, Bouhour, F., additional, Urtizberea, J.-A., additional, Renders, A., additional, Ecochard, R., additional, Le Flem, A., additional, Barrière, A., additional, Rouyer, A.P., additional, Fontaine, S., additional, Vadot, J.-P., additional, Luc Pupat, E., additional, Chartier, Y., additional, Vincent-Genod, D., additional, Girardot, F., additional, Manel, V., additional, Aubert, F., additional, Rode, G., additional, Denis, D., additional, Germa, V., additional, Quijano, S., additional, Pelligrini, N., additional, d’Anjou, M.C., additional, Féasson, L., additional, Chabrier, S., additional, Furby, A., additional, Goyet, C., additional, Delmas, M.C., additional, Campech, M., additional, Robert, F., additional, Hovart, H., additional, Cuisset, J.-M., additional, Badoil, I., additional, Fafin, C., additional, Tanant, V., additional, Sacconi, S., additional, Gayraud, J.-P., additional, Carpentier, A., additional, Vanderschueren, S., additional, Bourdeauducq, I., additional, Salicio-Castillo, D., additional, Cobo, A.M., additional, Commare, M.C., additional, Farigoule, V., additional, Huzar, C., additional, Berger, B., additional, Humbertclaude, V., additional, Rumeau, F., additional, Viehweger, E., additional, Payet-Laury, C., additional, Penisson-Besnier, I., additional, Kinet, V., additional, Laridant, D., additional, Spehrs-Ciaffi, V., additional, Bassez, G., additional, Goemans, N., additional, Pichancourt, D., additional, Jezequel, L., additional, and Vedrenne, N., additional

Published
2013
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48. Absence of Airway Secretion Accumulation Predicts Tolerance of Noninvasive Ventilation in Subjects With Amyotrophic Lateral Sclerosis

Author

Vandenberghe, N., primary, Vallet, A.-E., additional, Petitjean, T., additional, Le Cam, P., additional, Peysson, S., additional, Guerin, C., additional, Dailler, F., additional, Jay, S., additional, Cadiergue, V., additional, Bouhour, F., additional, Court-Fortune, I., additional, Camdessanche, J.-P., additional, Antoine, J.-C., additional, Philit, F., additional, Beuret, P., additional, Bin-Dorel, S., additional, Vial, C., additional, and Broussolle, E., additional

Published
2013
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