Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophy

Autor: Bernert, G., Knipp, F., Buyse, G.M., Goemans, N., van den Hauwe, M., Voit, T., Doppler, V., Gidaro, T., Cuisset, J.-M., Coopman, S., Schara, U., Lutz, S., Kirschner, J., Borell, S., Will, M., D'Angelo, M.G., Brighina, E., Gandossini, S., Gorni, K., Falcier, E., Politano, L., D'Ambrosio, P., Taglia, A., Verschuuren, J.J.G.M., Straathof, C.S.M., Vílchez Padilla, J.J., Muelas Gómez, N., Sejersen, T., Hovmöller, M., Jeannet, P.-Y., Bloetzer, C., Iannaccone, S., Castro, D., Tennekoon, G., Finkel, R., Bönnemann, C., McDonald, C., Henricson, E., Joyce, N., Apkon, S., Richardson, R.C., McDonald, Craig M., Meier, Thomas, Voit, Thomas, Schara, Ulrike, Straathof, Chiara S.M., D'Angelo, M. Grazia, Bernert, Günther, Cuisset, Jean-Marie, Finkel, Richard S., Goemans, Nathalie, Rummey, Christian, Leinonen, Mika, Spagnolo, Paolo, Buyse, Gunnar M. ^*

Publikováno v: In Neuromuscular Disorders August 2016 26(8):473-480

Towards regulatory endorsement of drug development tools to promote the application of model-informed drug development in Duchenne muscular dystrophy

Autor: Conrado, D. J., Larkindale, J., Berg, A., Hill, M., Burton, J., Abrams, K. R., Abresch, R. T., Bronson, A., Chapman, D., Crowther, M., Duong, T., Gordish-Dressman, H., Harnisch, L., Henricson, E., Kim, S., Mcdonald, C. M., Schmidt, S., Vong, C., Wang, X., Wong, B. L., Yong, F., Romero, K., Vishwanathan, V., Chidambaranathan, S., Douglas Biggar, W., Mcadam, L. C., Mah, J. K., Tulinius, M., Cnaan, A., Morgenroth, L. P., Leshner, R., Tesi-Rocha, C., Thangarajh, M., Kornberg, A., Ryan, M., Nevo, Y., Dubrovsky, A., Clemens, P. R., Abdel-Hamid, H., Connolly, A. M., Pestronk, A., Teasley, J., Bertorini, T. E., Webster, R., Kolski, H., Kuntz, N., Driscoll, S., Bodensteiner, J. B., Gorni, K., Lotze, T., Day, J. W., Karachunski, P., Henricson, E. K., Joyce, N. C., Campbell, C., Torricelli, R. E., Finkel, R. S., Flanigan, K. M., Goemans, N., Heydemann, P., Kaminska, A., Kirschner, J., Muntoni, F., Osorio, A. N., Schara, U., Sejersen, T., Shieh, P. B., Sweeney, H. L., Topaloglu, H., Vilchez, J. J., Voit, T., Wong, B., Alfano, L. N., Eagle, M., James, M. K., Lowes, L., Mayhew, A., Mazzone, E. S., Nelson, L., Rose, K. J., Abdel-Hamid, H. Z., Apkon, S. D., Barohn, R. J., Bertini, E., Bloetzer, C., Devaud, L. C., Butterfield, R. J., Chabrol, B., Chae, J. H., Jongno-Gu, D. R., Comi, G. P., Darras, B. T., Dastgir, J., Desguerre, I., Escobar, R. G., Finanger, E., Guglieri, M., Hughes, I., Iannaccone, S. T., Jones, K. J., Kudr, M., Mathews, K., Parsons, J., Pereon, Y., de Queiroz Campos Araujo, A. P., Renfroe, J. B., de Resende, M. B. D., Selby, K., Tennekoon, G., Vita, G., Apkon, S., Barohn, R., Belousova, E., Brandsema, J., Bruno, C., Burnette, W., Butterfield, R., Byrne, B., Carlo, J., Chandratre, S., Comi, G., Connolly, A., De Groot I, I., Deconinck, N., Dooley, J., Durigneux, J., Finkel, R., Frank, L. M., Harper, A., Hattori, A., Herguner, O., Iannaccone, S., Janas, J., Jong, Y. J., Komaki, H., Lee, W. T., Leung, E., Mah, J., Mercuri, E., Mcmillan, H., Mueller-Felber, W., de Munain A, L., Nakamura, A., Niks, E., Ogata, K., Pascual, S., Pegoraro, E., Renfroe, B., Sanka, R. B., Schallner, J., Sendra, I. I., Servais, L., Smith, E., Sparks, S., Victor, R., Wicklund, M., Wilichoswki, E., Carter, G. T.

Publikováno v: Journal of pharmacokinetics and pharmacodynamics. 46(5)

Drug development for rare diseases is challenged by small populations and limited data. This makes development of clinical trial protocols difficult and contributes to the uncertainty around whether or not a potential therapy is efficacious. The use

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2c09b3786f9b0bb24fb2fbd5cc3c944
https://pubmed.ncbi.nlm.nih.gov/31127458

Treatment effect of idebenone on inspiratory function in patients with Duchenne muscular dystrophy

Autor: Buyse, G.M., Voit, Thomas, Schara, Ulrike, Straathof, C.S.M., D’Angelo, M.G., Bernert, G., Cuisset, J.-M., Finkel, Richard S., Goemans, N., Rummey, Christian, Leinonen, Mika, Mayer, Oscar H., Spagnolo, Paolo, Meier, Thomas, McDonald, Craig M., Knipp, F., Van den Hauwe, M., Doppler, V., Gidaro, T., Coopman, S., Lutz, S., Kirschner, J., Borell, S., Will, M., Brighina, E., Gandossini, S., Gorni, K., Falcier, E., Politano, L., D’Ambrosio, P., Taglia, A., Verschuuren, J.J.G.M., Vílchez Padilla, J.J., Muelas Gómez, N., Sejersen, T., Hovmöller, M., Jeannet, P.-Y., Bloetzer, C., Iannaccone, S., Castro, D., Tennekoon, G., Bönnemann, C., Henricson, E., Joyce, N., Apkon, S., Richardson, R.C.

Publikováno v: Pediatric Pulmonology
Neuromuscular Disorders, 26, S156-S157
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname

Assessment of dynamic inspiratory function may provide valuable information about the degree and progression of pulmonary involvement in patients with Duchenne muscular dystrophy (DMD). The aims of this study were to characterize inspiratory function

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93a0077205a66f9bc9de03ec355058ac
https://hdl.handle.net/1887/112636

The TREAT-NMD DMD global database: Analysis of more than 7,000 duchenne muscular dystrophy mutations

Autor: Bladen, C.L. Salgado, D. Monges, S. Foncuberta, M.E. Kekou, K. Kosma, K. Dawkins, H. Lamont, L. Roy, A.J. Chamova, T. Guergueltcheva, V. Chan, S. Korngut, L. Campbell, C. Dai, Y. Wang, J. Barišić, N. Brabec, P. Lahdetie, J. Walter, M.C. Schreiber-Katz, O. Karcagi, V. Garami, M. Viswanathan, V. Bayat, F. Buccella, F. Kimura, E. Koeks, Z. van den Bergen, J.C. Rodrigues, M. Roxburgh, R. Lusakowska, A. Kostera-Pruszczyk, A. Zimowski, J. Santos, R. Neagu, E. Artemieva, S. Rasic, V.M. Vojinovic, D. Posada, M. Bloetzer, C. Jeannet, P.-Y. Joncourt, F. Díaz-Manera, J. Gallardo, E. Karaduman, A.A. Topaloğlu, H. El Sherif, R. Stringer, A. Shatillo, A.V. Martin, A.S. Peay, H.L. Bellgard, M.I. Kirschner, J. Flanigan, K.M. Straub, V. Bushby, K. Verschuuren, J. Aartsma-Rus, A. Béroud, C. Lochmüller, H.

Analyzing the type and frequency of patient-specific mutations that give rise to Duchenne muscular dystrophy (DMD) is an invaluable tool for diagnostics, basic scientific research, trial planning, and improved clinical care. Locus-specific databases

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::32f43daa7d637496293a8417fd930b47
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3087576

P.61 - Myoglobinuria in two patients with Duchenne muscular dystrophy after treatment with zoledronate: a case-report and call for caution

Autor: Bloetzer, C., Jacquier, D., Klein, A., Ivanyuk, A., Segarra, N. Garcia

Publikováno v: In Neuromuscular Disorders October 2017 27 Supplement 2:S116-S116