Search

Your search keyword '"Voit, T."' showing total 1,139 results
Start Over Author "Voit, T."
1,139 results on '"Voit, T."'

51. DMD – THERAPY

Author

Buyse, G., primary, Voit, T., additional, McDonald, C., additional, Gordish-Dressman, H., additional, Henricson, E., additional, Serjesen, T., additional, Bernert, G., additional, D'Angelo, M., additional, and Leinonen, M., additional

Published
2020
Full Text
View/download PDF

52. miR-379 links glucocorticoid treatment with mitochondrial response in Duchenne muscular dystrophy

Author

Sanson, M., primary, Vu Hong, A., additional, Massourides, E., additional, Bourg, N., additional, Suel, L., additional, Amor, F., additional, Corre, G., additional, Bénit, P., additional, Barthélémy, I., additional, Blot, S., additional, Bigot, A., additional, Pinset, C., additional, Rustin, P., additional, Servais, L., additional, Voit, T., additional, Richard, I., additional, and Israeli, D., additional

Published
2020
Full Text
View/download PDF

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

Author

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., and Servais, LJP

Subjects
Orphan Drug Production, Duchenne muscular dystrophy, Pharmacy, Model-informed drug development, 030226 pharmacology & pharmacy, Models, Biological, Food and drug administration, 03 medical and health sciences, 0302 clinical medicine, Models, medicine, Humans, Regulatory science, Computer Simulation, Muscular Dystrophy, Drug development tools, Duchenne muscular dystrophy consortium (D-RSC), Rare diseases, Regulatory endorsement, Clinical Trials as Topic, Muscular Dystrophy, Duchenne, United States, United States Food and Drug Administration, Pharmacology, Protocol (science), business.industry, Duchenne, Biological, medicine.disease, Clinical trial, Risk analysis (engineering), Drug development, 030220 oncology & carcinogenesis, Aggregate data, Business
Abstract

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 of data standards to aggregate data from multiple sources, and the use of such integrated databases to develop statistical models can inform protocol development and reduce the risks in developing new therapies. Achieving regulatory endorsement of such models through defined pathways at the US Food and Drug Administration and European Medicines Authority allows such tools to be used by the drug development community for defined contexts of use without further need for discussion of the underlying model(s). The Duchenne Regulatory Science Consortium (D-RSC) has brought together multiple stakeholders to develop a clinical trial simulation tool for Duchenne muscular dystrophy using such an approach. Here we describe the work of D-RSC as an example of how such an approach may be effective at reducing uncertainty in drug development for rare diseases, and thus bringing effective therapies to patients faster.

Published
2019

60. Respiratory and upper limb function as outcome measures in ambulant and non-ambulant subjects with Duchenne muscular dystrophy: A prospective multicentre study

Author

Ricotti, V., Selby, V., Ridout, D., Domingos, J., Decostre, V., Mayhew, A., Eagle, M., Butler, J., Guglieri, M., Holst, M., Jansen, M., Verschuuren, J., Groot, I.J.M. de, Niks, E.H., Servais, L., Straub, V., Voit, T., Hogrel, J.Y., Muntoni, F., Ricotti, V., Selby, V., Ridout, D., Domingos, J., Decostre, V., Mayhew, A., Eagle, M., Butler, J., Guglieri, M., Holst, M., Jansen, M., Verschuuren, J., Groot, I.J.M. de, Niks, E.H., Servais, L., Straub, V., Voit, T., Hogrel, J.Y., and Muntoni, F.

Abstract

Item does not contain fulltext, The field of translational research in Duchenne muscular dystrophy (DMD) has been transformed in the last decade by a number of therapeutic targets, mostly studied in ambulant patients. A paucity of studies focus on measures that capture the non-ambulant stage of the disease, and the transition between the ambulant and non-ambulant phase. In this prospective natural history study, we report the results of a comprehensive assessment of respiratory, upper limb function and upper limb muscle strength in a group of 89 DMD boys followed in 3 European countries, 81 receiving corticosteroids, spanning a wide age range (5-18 years) and functional abilities, from ambulant (n=60) to non-ambulant (n=29). Respiratory decline could be detected in the early ambulatory phase using Peak Expiratory Flow percentage predicted (PEF%), despite glucocorticoid use (mean annual decline: 4.08, 95% CI [-7.44,-0.72], p=0.02 in ambulant; 4.81, 95% CI [-6.79,-2.82], p < 0.001 in non-ambulant). FVC% captured disease progression in non-ambulant DMD subjects, with an annual loss of 5.47% (95% CI [-6.48,-4.45], p < 0.001). Upper limb function measured with the Performance of Upper Limb (PUL 1.2) showed an annual loss of 4.13 points (95% CI [-4.79,3.47], p < 0.001) in the non-ambulant cohort. Measures of upper limb strength (MyoGrip and MyoPinch) showed a continuous decline independent of the ambulatory status, when reported as percentage predicted (grip force -5.51%, 95% CI [-6.54,-4.48], p < 0.001 in ambulant and a slower decline -2.86%; 95% CI -3.29,-2.43, p < 0.001, in non-ambulant; pinch force: -2.66%, 95% CI [-3.82,-1.51], p < 0.001 in ambulant and -2.23%, 95% CI [-2.92,-1.53], p < 0.001 in non-ambulant). Furthermore, we also explored the novel concept of a composite endpoint by combining respiratory, upper limb function and force domains: we were able to identify clear clinical progression in patients in whom an isolated measurement of only one of these domains failed to appreciate the yearly

Published
2019

67. P.144A cross sectional and longitudinal miRNA profiling study identified a set of novel free-circulating and exosomal miRNAs dysregulated in plasma from Duchenne muscular dystrophy patients

Author

Catapano, F., primary, Scaglioni, D., additional, Maresh, K., additional, Selby, V., additional, Ala, P., additional, Domingos, J., additional, Ricotti, V., additional, Phillips, L., additional, van der Holst, M., additional, Servais, L., additional, Seferian, A., additional, de Groot, I., additional, Krom, Y., additional, Voit, T., additional, Verschuuren, J., additional, Niks, E., additional, Straub, V., additional, Morgan, J., additional, and Muntoni, F., additional

Published
2019
Full Text
View/download PDF

70. P.149The MYODA operational seamless clinical trial design phase I to III: a new approach for rare diseases to evaluate the safety, efficacy, pharmacokinetics, and pharmacodynamics of BIO101 (MAS activator) in paediatric patients with a genetically confirmed diagnosis of Duchenne muscular dystrophy

Author

Chabane, M., primary, Dioh, W., additional, Dilda, P., additional, Lafont, R., additional, Veillet, S., additional, Voit, T., additional, and Agus, S., additional

Published
2019
Full Text
View/download PDF

73. Respiratory and upper limb function as outcome measures in ambulant and non-ambulant subjects with Duchenne muscular dystrophy: A prospective multicentre study

Author

Ricotti, V., primary, Selby, V., additional, Ridout, D., additional, Domingos, J., additional, Decostre, V., additional, Mayhew, A., additional, Eagle, M., additional, Butler, J., additional, Guglieri, M., additional, Van der Holst, M., additional, Jansen, M., additional, Verschuuren, J.J.G.M., additional, de Groot, I.J.M., additional, Niks, E.H., additional, Servais, L., additional, Straub, V., additional, Voit, T., additional, Hogrel, J.Y., additional, and Muntoni, F., additional

Published
2019
Full Text
View/download PDF

78. Adult Polyglucosan Body Myopathy

Author

GOEBEL, H. H., SHIN, Y. S., GULLOTTA, F., YOKOTA, T., ALROY, J., VOIT, T., HALLER, P., and SCHULZ, A.

Published
1992

79. Efficacy of idebenone on respiratory function in patients with Duchenne muscular dystrophy not using glucocorticoids (DELOS): a double-blind randomised placebo-controlled phase 3 trial

Author

Buyse GM, Voit T, Schara U, Straathof CS, D'Angelo MG, Bernert G, Cuisset JM, Finkel RS, Goemans N, McDonald CM, Rummey C, Meier T, DELOS Study Group, POLITANO, Luisa, Lutz, S (Beitragende*r), Buyse, Gm, Voit, T, Schara, U, Straathof, C, D'Angelo, Mg, Bernert, G, Cuisset, Jm, Finkel, R, Goemans, N, Mcdonald, Cm, Rummey, C, Meier, T, Politano, Luisa, and DELOS Study, Group

Subjects
Male, medicine.medical_specialty, Pediatrics, Adolescent, Ubiquinone, Duchenne muscular dystrophy, Population, Medizin, Peak Expiratory Flow Rate, Placebo, Antioxidants, law.invention, 03 medical and health sciences, 0302 clinical medicine, Double-Blind Method, Randomized controlled trial, law, Internal medicine, Clinical endpoint, Humans, Medicine, Idebenone, Respiratory function, Child, education, 030304 developmental biology, Medicine(all), 0303 health sciences, education.field_of_study, Intention-to-treat analysis, business.industry, General Medicine, Respiration Disorders, medicine.disease, Respiratory Muscles, Respiratory Function Tests, 3. Good health, Muscular Dystrophy, Duchenne, Treatment Outcome, business, 030217 neurology & neurosurgery, medicine.drug
Abstract

SummaryBackgroundCardiorespiratory failure is the leading cause of death in Duchenne muscular dystrophy. Based on preclinical and phase 2 evidence, we assessed the efficacy and safety of idebenone in young patients with Duchenne muscular dystrophy who were not taking concomitant glucocorticoids.MethodsIn a multicentre phase 3 trial in Belgium, Germany, the Netherlands, Switzerland, France, Sweden, Austria, Italy, Spain, and the USA, patients (age 10–18 years old) with Duchenne muscular dystrophy were randomly assigned in a one-to-one ratio with a central interactive web response system with a permuted block design with four patients per block to receive idebenone (300 mg three times a day) or matching placebo orally for 52 weeks. Study personnel and patients were masked to treatment assignment. The primary endpoint was change in peak expiratory flow (PEF) as percentage predicted (PEF%p) from baseline to week 52, measured with spirometry. Analysis was by intention to treat (ITT) and a modified ITT (mITT), which was prospectively defined to exclude patients with at least 20% difference in the yearly change in PEF%p, measured with hospital-based and weekly home-based spirometry. This study is registered with ClinicalTrials.gov, number NCT01027884.Findings31 patients in the idebenone group and 33 in the placebo group comprised the ITT population, and 30 and 27 comprised the mITT population. Idebenone significantly attenuated the fall in PEF%p from baseline to week 52 in the mITT (−3·05%p [95% CI −7·08 to 0·97], p=0·134, vs placebo −9·01%p [–13·18 to −4·84], p=0·0001; difference 5·96%p [0·16 to 11·76], p=0·044) and ITT populations (−2·57%p [–6·68 to 1·54], p=0·215, vs −8·84%p [–12·73 to −4·95], p

Published
2015

81. DMD CLINICAL THERAPIES II

Author

Buyse, G., primary, Meier, T., additional, Leinonen, M., additional, Hasham, S., additional, Mayer, O., additional, and Voit, T., additional

Published
2018
Full Text
View/download PDF

86. Consortium for Products Across Europe in Duchenne Muscular Dystrophy (SCOPE-DMD)

Author

Straub, V., Veldhuizen, O., Bertoli, M., Eagle, M., Campion, G., Ferreira, I., Braakman, T., Labourkas, A., Giannakopoulos, S., Aygun, H., Wojczewski, S., Voit, T., Carlier, P., Moraux, A., Servais, L., Niks, E., Verschuuren, J., Spitali, P., Aartsma-Rus, A., and SCOPE-DMD Consortium

Subjects
Gerontology, History, Scope (project management), Duchenne muscular dystrophy, Oligonucleotides, Environmental ethics, Exons, medicine.disease, Europe, Muscular Dystrophy, Duchenne, medicine, Humans, Muscle, Skeletal, Genetics (clinical)
Published
2015

87. Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

Author

McDonald, C. M., 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., Tulinius, M., Vilchez, J. J., Voit, T., Wong, B., Elfring, G., Kroger, H., Luo, X., McIntosh, J., Ong, T., Riebling, P., Souza, M., Spiegel, R. J., Peltz, S. W., Mercuri, E., 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., de Vaud, 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., Karachunski, P., Kudr, M., Lotze, T., Mah, J. K., Mathews, K., Nevo, Y., Parsons, J., Pereon, Y., de Queiroz Campos Araujo, A. P., Renfroe, J. B., de Resende, M. B. D., Ryan, M., Selby, K., Tennekoon, G., Vita, G., Mercuri E. (ORCID:0000-0002-9851-5365), McDonald, C. M., 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., Tulinius, M., Vilchez, J. J., Voit, T., Wong, B., Elfring, G., Kroger, H., Luo, X., McIntosh, J., Ong, T., Riebling, P., Souza, M., Spiegel, R. J., Peltz, S. W., Mercuri, E., 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., de Vaud, 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., Karachunski, P., Kudr, M., Lotze, T., Mah, J. K., Mathews, K., Nevo, Y., Parsons, J., Pereon, Y., de Queiroz Campos Araujo, A. P., Renfroe, J. B., de Resende, M. B. D., Ryan, M., Selby, K., Tennekoon, G., Vita, G., and Mercuri E. (ORCID:0000-0002-9851-5365)

Abstract

Background Duchenne muscular dystrophy (DMD) is a severe, progressive, and rare neuromuscular, X-linked recessive disease. Dystrophin deficiency is the underlying cause of disease; therefore, mutation-specific therapies aimed at restoring dystrophin protein production are being explored. We aimed to assess the efficacy and safety of ataluren in ambulatory boys with nonsense mutation DMD. Methods We did this multicentre, randomised, double-blind, placebo-controlled, phase 3 trial at 54 sites in 18 countries located in North America, Europe, the Asia-Pacific region, and Latin America. Boys aged 7–16 years with nonsense mutation DMD and a baseline 6-minute walk distance (6MWD) of 150 m or more and 80% or less of the predicted normal value for age and height were randomly assigned (1:1), via permuted block randomisation (block size of four) using an interactive voice-response or web-response system, to receive ataluren orally three times daily (40 mg/kg per day) or matching placebo. Randomisation was stratified by age (<9 years vs ≥9 years), duration of previous corticosteroid use (6 months to <12 months vs ≥12 months), and baseline 6MWD (<350 m vs ≥350 m). Patients, parents and caregivers, investigational site personnel, PTC Therapeutics employees, and all other study personnel were masked to group allocation until after database lock. The primary endpoint was change in 6MWD from baseline to week 48. We additionally did a prespecified subgroup analysis of the primary endpoint, based on baseline 6MWD, which is reflective of anticipated rates of disease progression over 1 year. The primary analysis was by intention to treat. This study is registered with ClinicalTrials.gov, number NCT01826487. Findings Between March 26, 2013, and Aug 26, 2014, we randomly assigned 230 patients to receive ataluren (n=115) or placebo (n=115); 228 patients comprised the intention-to-treat population. The least-squares mean change in 6MWD from baseline to week 48 was −47·7 m (SE 9·3

Published
2017

88. A new AAV10-mediated gene therapy for SOD1 -linked ALS

Author

Biferi, M., primary, Cohen-Tannoudji, M., additional, Cappelletto, A., additional, Giroux, B., additional, Roda, M., additional, Astord, S., additional, Marais, T., additional, Ferry, A., additional, Voit, T., additional, and Barkats, M., additional

Published
2017
Full Text
View/download PDF

89. Myostatin expression levels in neuromuscular diseases participates in anti-myostatin clinical failure

Author

Mariot, V., primary, Joubert, R., additional, Hourdé, C., additional, Féasson, L., additional, Hanna, M., additional, Muntoni, F., additional, Maisonobe, T., additional, Servais, L., additional, Panse, R. Le, additional, Benveniste, O., additional, Stojkovic, T., additional, Machado, P., additional, Voit, T., additional, Buj-Bello, A., additional, and Dumonceaux, J., additional

Published
2017
Full Text
View/download PDF

90. Outcome measures for Duchenne muscular dystrophy from ambulant to non-ambulant patients: implications for clinical trials

Author

Domingos, J., primary, Eagle, M., additional, Moraux, A., additional, Butler, J., additional, Decostre, V., additional, Ridout, D., additional, Mayhew, A., additional, Selby, V., additional, Guglieri, M., additional, Van der Holst, M., additional, Jansen, M., additional, Verschuuren, J., additional, de Groot, I., additional, Niks, E., additional, Servais, L., additional, Hogrel, J., additional, Straub, V., additional, Voit, T., additional, Ricotti, V., additional, and Muntoni, F., additional

Published
2017
Full Text
View/download PDF

91. Reversible endogenous downregulation of myostatin pathway in wasting neuromuscular diseases explains challenges of anti-myostatin therapeutic approaches

Author

Mariot, V., primary, Joubert, R., additional, Hourdé, C., additional, Féasson, L., additional, Hanna, M., additional, Muntoni, F., additional, Maisonobe, T., additional, Servais, L., additional, Le Panse, R., additional, Benveniste, O., additional, Stojkovic, T., additional, Machado, P., additional, Voit, T., additional, Buj-Bello, A., additional, and Dumonceaux, J., additional

Published
2017
Full Text
View/download PDF

92. Characterization of pulmonary function in 10–18 year old patients with Duchenne muscular dystrophy

Author

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

Published
2017
Full Text
View/download PDF

93. Outcome measures for Duchenne muscular dystrophy from ambulant to non-ambulant: implications for clinical trials

Author

Domingos, J., primary, Eagle, M., additional, Moraux, A., additional, Butler, J., additional, Decostre, V., additional, Ridout, D., additional, Mayhew, A., additional, Selby, V., additional, Guglieri, M., additional, Van der Holst, M., additional, Jansen, M., additional, Verschuuren, J.G.M., additional, de Groot, I., additional, Niks, E., additional, Servais, L., additional, Hogrel, J.Y., additional, Straub, V., additional, Voit, T., additional, Ricotti, V., additional, and Muntoni, F., additional

Published
2017
Full Text
View/download PDF

94. Myostatin inhibition for neuromuscular disorders: defining the good candidate

Author

Mariot, V., primary, Joubert, R., additional, Hourdé, C., additional, Servais, L., additional, Hanna, M.G., additional, Maisonobe, T., additional, Muntoni, F., additional, Féasson, L., additional, Le Panse, R., additional, Benvensite, O., additional, Stojkovic, T., additional, Buj-Bello, A., additional, Machado, P., additional, Voit, T., additional, and Dumonceaux, J., additional

Published
2017
Full Text
View/download PDF

95. G.P.147 - Outcome measures for Duchenne muscular dystrophy from ambulant to non-ambulant: implications for clinical trials

Author

Ricotti, V, Eagle, M, Butler, J, Decostre, V, Deborah, R, Moraux, A, Anthony, Karen, Sleby, V, Guglieri, M, Van der Holst, M, Jansen, M, Morgan, J, de Groot, I, Niks, E, Verschuuren, J, Servais, L, Hogrel, J Y, Voit, T, Straub, V, and Muntoni, F

Subjects
musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities
Abstract

Novel emerging therapies for Duchenne muscular dystrophy (DMD), such as antisense oligomer (AO) mediated exon skipping, have generated the need of understanding the natural history study of the targeted genotype subgroups. Most natural history studies are focused on ambulant subjects; therefore very little data exists on non-ambulant DMD. Specifically targeting skippable deletions, we aim to assess the natural history of DMD through a composite assessment tool capable of capturing disease progression beyond loss of ambulation.

Published
2015

97. Childhood Pompe disease: clinical spectrum and genotype in 31 patients

Author

Capelle, C.I. van, Meijden, J.C. van der, Hout, J.M. van den, Jaeken, J., Baethmann, M., Voit, T., Kroos, M.A., Derks, T.G., Rubio-Gozalbo, M.E., Willemsen, M.A.A.P., Lachmann, R.H., Mengel, E., Michelakakis, H., Jongste, J.C. de, Reuser, A.J., Ploeg, A.T. van der, Capelle, C.I. van, Meijden, J.C. van der, Hout, J.M. van den, Jaeken, J., Baethmann, M., Voit, T., Kroos, M.A., Derks, T.G., Rubio-Gozalbo, M.E., Willemsen, M.A.A.P., Lachmann, R.H., Mengel, E., Michelakakis, H., Jongste, J.C. de, Reuser, A.J., and Ploeg, A.T. van der

Abstract

Contains fulltext : 167647.pdf (publisher's version ) (Open Access), BACKGROUND: As little information is available on children with non-classic presentations of Pompe disease, we wished to gain knowledge of specific clinical characteristics and genotypes. We included all patients younger than 18 years, who had been evaluated at the Pompe Center in Rotterdam, the Netherlands, between 1975 and 2012, excluding those with the classic-infantile form. None were treated with enzyme replacement therapy at the time of evaluation. We collected information on first symptoms, diagnosis, use of a wheelchair and/or respirator, and enzyme and mutation analysis and assessed muscle strength, pulmonary function, and cardiac parameters. RESULTS: Thirty-one patients participated. Median age at symptom onset was 2.6 years (range 0.5-13y) and at diagnosis 4.0 years. Most first problems were delayed motor development and problems related to limb-girdle weakness. Fatigue, persistent diarrhea and problems in raising the head in supine position were other first complaints. Ten patients were asymptomatic at time of diagnosis. Five of them developed symptoms before inclusion in this study. Over 50 % of all patients had low or absent reflexes, a myopathic face, and scoliosis; 29 % were underweight. Muscle strength of the neck flexors, hip extensors, hip flexors, and shoulder abductors were most frequently reduced. Pulmonary function was decreased in over 48 % of the patients; 2 patients had cardiac hypertrophy. Patients with mutations other than the c.-32-13T > G were overall more severely affected, while 18 out of the 21 patients (86 %) with the c.-32-13T > G/'null' genotype were male. CONCLUSIONS: Our study shows that Pompe disease can present with severe mobility and respiratory problems during childhood. Pompe disease should be considered in the differential diagnosis of children with less familiar signs such as disproportional weakness of the neck flexors, unexplained fatigue, persistent diarrhea and unexplained high CK/ASAT/ALAT. Disease presentation appe

Published
2016

98. GNE myopathy in Roma patients homozygous for the p.I618T founder mutation

Author

Chamova, T., Gospodinova, M., Guergueltcheva, V., Krause, S., Cirak, S., Kaprelyan, A., Angelova, L., Mihaylova, V., Bichev, S., Chandler, D., Naydenov, E., Grudkova, M., Djukmedzhiev, P., Bogdanova, D., Kmetska, K., Voit, T., Pogoryelova, O., Lochmuller, H., Goebel, H., Bahlo, M., Kalaydjieva, L., Tournev, I., Chamova, T., Gospodinova, M., Guergueltcheva, V., Krause, S., Cirak, S., Kaprelyan, A., Angelova, L., Mihaylova, V., Bichev, S., Chandler, D., Naydenov, E., Grudkova, M., Djukmedzhiev, P., Bogdanova, D., Kmetska, K., Voit, T., Pogoryelova, O., Lochmuller, H., Goebel, H., Bahlo, M., Kalaydjieva, L., and Tournev, I.

Published
2016

99. Childhood Pompe disease: clinical spectrum and genotype in 31 patients

Author

Capelle, Carine, Meijden, Chris, van den Hout, Hannerieke, Jaeken, J, Baethmann, M, Voit, T, Haan, Marian, Derks, TGJ, Rubio-Gozalbo, ME, Willemsen, MA, Lachmann, RH, Mengel, E, Michelakakis, H, Jongste, Johan, Reuser, Arnold, van der Ploeg, Ans, Capelle, Carine, Meijden, Chris, van den Hout, Hannerieke, Jaeken, J, Baethmann, M, Voit, T, Haan, Marian, Derks, TGJ, Rubio-Gozalbo, ME, Willemsen, MA, Lachmann, RH, Mengel, E, Michelakakis, H, Jongste, Johan, Reuser, Arnold, and van der Ploeg, Ans

Published
2016

Catalog

Books, media, physical & digital resources
See catalog results