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270 results on '"Salort-Campana, E."'

9. P69 Scoping review on the assessment tools used on SMA adolescent and adult patients

Author

Hogrel, J., primary, Barrière, A., additional, Bonnyaud, C., additional, Boyer, F., additional, Gargiulo, M., additional, Li, D., additional, Montagu, G., additional, Berling, E., additional, Cintas, P., additional, Goff, L Le, additional, Marchadier, B., additional, Sekou, G N'Dah, additional, Orlikowksi, D., additional, Pouplin, S., additional, Prigent, H., additional, Ropars, J., additional, Salort-Campana, E., additional, Stojkovic, T., additional, Attarian, S., additional, and Laforêt, P., additional

Published
2023
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11. P70 What are the priorities of adolescents and adults with SMA and their health care practitioners toward evaluation? A French qualitative study

Author

Hogrel, J., primary, Berling, E., additional, Prigent, H., additional, Montagu, G., additional, Barrière, A., additional, Bonnyaud, C., additional, Boyer, F., additional, Cintas, P., additional, Gargiulo, M., additional, Le Goff, L., additional, Marchadier, B., additional, Sekou, N G'Dah, additional, Orlikowski, D., additional, Pouplin, S., additional, Pruvot, A., additional, Ropars, J., additional, Salort-Campana, E., additional, Stojkovic, T., additional, Attarian, S., additional, and Laforêt, P., additional

Published
2023
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16. Myofibrillar myopathies: State of the art, present and future challenges

Author

Béhin, A., Salort-Campana, E., Wahbi, K., Richard, P., Carlier, R.-Y., Carlier, P., Laforêt, P., Stojkovic, T., Maisonobe, T., Verschueren, A., Franques, J., Attarian, S., Maues de Paula, A., Figarella-Branger, D., Bécane, H.-M., Nelson, I., Duboc, D., Bonne, G., Vicart, P., Udd, B., Romero, N., Pouget, J., and Eymard, B.

Published
2015
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22. Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis Approach

Author

Mayhew, A. G., James, M. K., Moore, U., Sutherland, H., Jacobs, M., Feng, J., Lowes, L. P., Alfano, L. N., Muni Lofra, R., Rufibach, L. E., Rose, K., Duong, T., Bello, L., Pedrosa-Hernandez, I., Holsten, S., Sakamoto, C., Canal, A., Sanchez-Aguilera Praxedes, N., Thiele, S., Siener, C., Vandevelde, B., Dewolf, B., Maron, E., Gordish-Dressman, H., Hilsden, H., Guglieri, M., Hogrel, J. -Y., Blamire, A. M., Carlier, P. G., Spuler, S., Day, J. W., Jones, K. J., Bharucha-Goebel, D. X., Salort-Campana, E., Pestronk, A., Walter, M. C., Paradas, C., Stojkovic, T., Mori-Yoshimura, M., Bravver, E., Diaz-Manera, J., Pegoraro, E., Mendell, J. R., Jain COS Consortium, Straub, V., Jain Foundation, John Walton Centre Muscular Dystrophy Research Centre, and MRC Centre Neuromuscular Biobank (UK)

Subjects
PROMs, Neurology, quality of life, Neurology (clinical), clinical outcome assessments, dysferlinopathy, limb girdle muscular dystrophy, Function and Dysfunction of the Nervous System
Abstract

Dysferlinopathy is a muscular dystrophy with a highly variable functional disease progression in which the relationship of function to some patient reported outcome measures (PROMs) has not been previously reported. This analysis aims to identify the suitability of PROMs and their association with motor performance.Two-hundred and four patients with dysferlinopathy were identified in the Jain Foundation's Clinical Outcome Study in Dysferlinopathy from 14 sites in 8 countries. All patients completed the following PROMs: Individualized Neuromuscular Quality of Life Questionnaire (INQoL), International Physical Activity Questionnaire (IPAQ), and activity limitations for patients with upper and/or lower limb impairments (ACTIVLIMs). In addition, nonambulant patients completed the Egen Klassifikation Scale (EK). Assessments were conducted annually at baseline, years 1, 2, 3, and 4. Data were also collected on the North Star Assessment for Limb Girdle Type Muscular Dystrophies (NSAD) and Performance of Upper Limb (PUL) at these time points from year 2. Data were analyzed using descriptive statistics and Rasch analysis was conducted on ACTIVLIM, EK, INQoL. For associations, graphs (NSAD with ACTIVLIM, IPAQ and INQoL and EK with PUL) were generated from generalized estimating equations (GEE). The ACTIVLIM appeared robust psychometrically and was strongly associated with the NSAD total score (Pseudo R 2 0.68). The INQoL performed less well and was poorly associated with the NSAD total score (Pseudo R 2 0.18). EK scores were strongly associated with PUL (Pseudo R 2 0.69). IPAQ was poorly associated with NSAD scores (Pseudo R 2 0.09). This study showed that several of the chosen PROMs demonstrated change over time and a good association with functional outcomes. An alternative quality of life measure and method of collecting data on physical activity may need to be selected for assessing dysferlinopathy., The estimated US $4 million needed to fund this study was provided by the Jain Foundation (www.jainfoundation.org). The John Walton Muscular Dystrophy Research Centre is part of the MRC Centre for Neuromuscular Diseases (Grant Number MR/K000608/1).

Published
2022

23. LGMD

Author

Moore, U., primary, James, M., additional, Spuler, S., additional, Day, J., additional, Jones, K., additional, Bharucha-Goebel, D., additional, Salort-Campana, E., additional, Pestronk, A., additional, Walter, M., additional, Paradas, C., additional, Stojkovic, T., additional, Yoshimura, M. Mori, additional, Bravver, E., additional, Pegoraro, E., additional, Mendell, J., additional, Bushby, K., additional, Straub, V., additional, and Mayhew, A., additional

Published
2021
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28. 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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30. Multipositivité des anticorps spécifiques des myosites recherchéspar immunoblot : séroprévalence et signification clinique

Author

Briantais, A., primary, Seguier, J., additional, Meunier, B., additional, De Sainte Marie, B., additional, Salort-Campana, E., additional, Kaplanski, G., additional, Bardin, N., additional, Bertin, D., additional, Swiader, L., additional, Harlé, J.R., additional, Ebbo, M., additional, Schleinitz, N., additional, and Durand, J., additional

Published
2020
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32. FROM THE SPINAL CORD TO THE MUSCLE

Author

Moore, U., primary, Gordish, H., additional, Maneraz, J. Díaz, additional, James, M., additional, Mayhew, A., additional, Guglieri, M., additional, Spuler, S., additional, Day, J., additional, Jones, K., additional, Bharucha-Goebel, D., additional, Salort-Campana, E., additional, Pestronk, A., additional, Walter, M., additional, Paradas, C., additional, Stojkovic, T., additional, Yoshimura, M., additional, Bravver, E., additional, Pegoraro, E., additional, Mendell, J., additional, and Straub, V., additional

Published
2020
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34. P.183Functional progression in dysferlinopathy: results of a 3-year natural history study

Author

Jacobs, M., primary, James, M., additional, Mayhew, A., additional, Hilsden, H., additional, Sutherland, H., additional, Spuler, S., additional, Day, J., additional, Jones, K., additional, Bharucha-Goebel, D., additional, Salort-Campana, E., additional, Pestronk, A., additional, Walter, M., additional, Paradas, C., additional, Stojkovic, T., additional, Mori-Yoshimura, M., additional, Bravver, E., additional, Diaz Manera, J., additional, Pegoraro, E., additional, Mendell, J., additional, Rufibach, L., additional, and Straub, V., additional

Published
2019
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35. P.177Measuring what matters in dysferlinopathy – linking functional ability to patient reported outcome measures

Author

Mayhew, A., primary, James, M., additional, Hilsden, H., additional, Sutherland, H., additional, Jacobs, M., additional, Spuler, S., additional, Day, J., additional, Jones, K., additional, Bharucha-Goebel, D., additional, Salort-Campana, E., additional, Pestronk, A., additional, Walter, M., additional, Paradas, C., additional, Stojkovic, T., additional, Mori-Yoshimura, M., additional, Bravver, E., additional, Diaz Manera, J., additional, Pegoraro, E., additional, Mendell, J., additional, Rufibach, L., additional, and Straub, V., additional

Published
2019
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37. Dermatological manifestations of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis ( POIKTMP ): a case series of 28 patients

Author

Chasseuil, E., primary, McGrath, J.A., additional, Seo, A., additional, Balguerie, X., additional, Bodak, N., additional, Chasseuil, H., additional, Denis‐Musquer, M., additional, Goldenberg, A., additional, Goussot, R., additional, Irvine, A.D., additional, Khumalo, N.P., additional, King, M.C., additional, Küry, S., additional, Lipsker, D., additional, Mallet, S., additional, Mayosi, B.M., additional, Nanda, A., additional, Puzenat, E., additional, Salort‐Campana, E., additional, Sidbury, R., additional, Shimamura, A., additional, Bézieau, S., additional, Mercier, S., additional, and Barbarot, S., additional

Published
2019
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38. Clinical Outcome Study for Dysferlinopathy: Three years of natural history data for clinical trial readiness

Author

Straub, V, additional, James, MK, additional, Mayhew, AG, additional, Spuler, S, additional, Day, JW, additional, Jones, KJ, additional, Bharucha-Goebel, DX, additional, Salort Campana, E, additional, Pestronk, A, additional, Krause, S, additional, Walter, MC, additional, Paradas, C, additional, Stojkovic, T, additional, Yoshimura, M, additional, Bravver, E, additional, Díaz-Manera, J, additional, Pegoraro, E, additional, Mendell, J, additional, and Bushby, K, additional

Published
2019
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39. Clinical Outcome Study in Dysferlinopathy: Medical comorbidities and polytherapy in a large population of dysferlinopathy patients

Author

Storch, K, additional, Spuler, S, additional, Day, JW, additional, Jones, KJ, additional, Bharucha-Goebel, DX, additional, Salort Campana, E, additional, Walter, MC, additional, Krause, S, additional, Pestronk, A, additional, Paradas, C, additional, Stojkovic, T, additional, Mori-Yoshimura, M, additional, Bravver, E, additional, Manera, JD, additional, Pegoraro, E, additional, Mendell, JR, additional, Bushby, K, additional, and Straub, V, additional

Published
2019
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40. 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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42. LIMB-GIRDLE MUSCULAR DYSTROPHY I

Author

James, M., primary, Mayhew, A., additional, Jacobs, M., additional, Spuler, S., additional, Day, J., additional, Jones, K., additional, Bharucha-Goebel, D., additional, Salort-Campana, E., additional, Pestronk, A., additional, Walter, M., additional, Paradas, C., additional, Stojkovic, T., additional, Mori-Yoshimura, M., additional, Bravver, E., additional, Diaz Manera, J., additional, Pegoraro, E., additional, Mendell, J., additional, Bushby, K., additional, and Straub, V., additional

Published
2018
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43. LIMB-GIRDLE MUSCULAR DYSTROPHY I

Author

Fernandez-Torron, R., primary, Diaz-Manera, J., additional, James, M., additional, Mayhew, A., additional, Spuler, S., additional, Day, J., additional, Jones, K., additional, Bharucha-Goebel, D., additional, Salort-Campana, E., additional, Pestronk, A., additional, Walter, M., additional, Paradas, C., additional, Stojkovic, T., additional, Mori-Yoshimura, M., additional, Bravver, E., additional, Pegoraro, E., additional, Mendell, J., additional, Consortium, Jain, additional, Bushby, K., additional, and Straub, V., additional

Published
2018
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44. LIMB-GIRDLE MUSCULAR DYSTROPHY I

Author

Diaz-Manera, J., primary, Fernández-Torron, R., additional, James, M., additional, Mayhew, A., additional, Jacobs, M., additional, Spuler, S., additional, Day, J., additional, Jones, K., additional, Bharucha-Goebel, D., additional, Salort-Campana, E., additional, Pestronk, A., additional, Walter, M., additional, Paradas, C., additional, Stojkovic, T., additional, Mori-Yoshimura, M., additional, Bravver, E., additional, Pegoraro, E., additional, Mendell, J., additional, Bushby, K., additional, and Straub, V., additional

Published
2018
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45. Is cardiac dysfunction a feature of dysferlinopathy? Data from the Clinical Outcome Study of Dysferlinopathy

Author

Tiet, M., primary, Fernandez-Torrón, R., additional, Bourke, J., additional, Bettinson, K., additional, Harris, E., additional, Hilsden, H., additional, Spuler, S., additional, Day, J.W., additional, Jones, K.J., additional, Bharucha-Goebel, D.X., additional, Salort-Campana, E., additional, Pestronk, A., additional, Walter, M.C., additional, Paradas, C., additional, Stojkovic, T., additional, Mori-Yoshimura, M., additional, Bravver, E., additional, Diaz Manera, J., additional, Pegoraro, E., additional, Mendell, J.R., additional, Bushby, K., additional, and Straub, V., additional

Published
2018
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46. Clinical Outcome Study of Dysferlinopathy: what are the best outcome measures for dysferlinopathy patients?

Author

James, M.K., primary, Jacobs, M., additional, Mayhew, A., additional, Feng, J., additional, Spuler, S., additional, Day, J.W., additional, Jones, K.J., additional, Bharucha-Goebel, D.X., additional, Salort-Campana, E., additional, Pestronk, A., additional, Walter, M.C., additional, Paradas, C., additional, Stojkovic, T., additional, Mori-Yoshimura, M., additional, Bravver, E., additional, Diaz Manera, J., additional, Pegoraro, E., additional, Mendell, J.R., additional, Bushby, K., additional, and Straub, V., additional

Published
2018
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47. 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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49. Is cardiac dysfunction a feature of dysferlinopathy? Data from the clinical outcome study of dysferlinopathy

Author

Fernandez Torron, R., primary, Harris, E., additional, Bourke, J., additional, Bettinson, K., additional, Hilsden, H., additional, Spuler, S., additional, Day, J., additional, Jones, K., additional, Bharucha-Goebel, D., additional, Salort-Campana, E., additional, Pestronk, A., additional, Walter, M., additional, Paradas, C., additional, Stojkovic, T., additional, Mori-Yoshimura, M., additional, Bravver, E., additional, Diaz-Manera, J., additional, Pegoraro, E., additional, Mendell, J., additional, Bushby, K., additional, and Straub, V., additional

Published
2017
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50. Genetic characterization of a French cohort of GNE -mutation negative inclusion body myopathy patients using exome sequencing

Author

Cerino, M., primary, Gorokhova, S., additional, Laforêt, P., additional, Ben Yaou, R., additional, Salort-Campana, E., additional, Pouget, J., additional, Attarian, S., additional, Eymard, B., additional, Deleuze, J., additional, Boland, A., additional, Behin, A., additional, Stojkovic, T., additional, Bonne, G., additional, Lévy, N., additional, Bartoli, M., additional, and Krahn, M., additional

Published
2017
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