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1. STUDY PROTOCOL OF A MULTI-STAGE RANDOMISED CONTROLLED STUDY FOR THE ASSESSMENT OF POSTOPERATIVE THERAPEUTIC PROCEDURES AFTER TOTAL KNEE ARTHROPLASTY

Author

Prill R, Kirschner J, Michel S, Schulz R, and Hommel H

Subjects
Total Joint Replacement, knee, arthroplasty, Patient related outcomes, functional outcomes, trial, Medicine (General), R5-920
Abstract

Background: There continues to be a lack of evidence to support physiotherapeutic rehabilitation measures after total knee arthroplasty (TKA), especially in the area of functional test procedures, which are indispensable for assessing perioperative physiotherapeutic interventions, including their efficacy. Objective: A multi-stage randomized controlled study design is concerned with the establishment of an evidence-based perioperative physiotherapeutic treatment programme to evaluate physical functional test procedures with regard to their predictive value and the efficacy of physiotherapeutic interventions. Setting: The RCT will be realized in a medical clinic in the department of orthopaedics, sports medicine and rehabilitation.Participants: A first stage will include young, healthy subjects (Group A) and subjects who are due to undergo TKA and are then to be treated with a standard rehabilitation programme (Group B). Design: Selected promising physical functional test procedures will be tested for their reliability. Inter-tester reliability will be determined in Group A. The test-retest reliability at different perioperative timepoints will be determined in Group B. Measurements: The following test procedures will be investigated for reliability: 10-m walk test, timed up and go, three times sit to stand, the isometric maximal force of knee extension, stair climbing and the cumulative leg circumference. In addition, these test procedures will be correlated with each other and with the WOMAC and KSS for selected aspects of validity. In a second stage, the reliable test procedures will be applied to investigate selected promising physiotherapeutic interventions. Conclusions: The investigation could change perioperative assessments and physiotherapeutic treatment in patients who have undergone TKA.

Published
2018
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2. Patient preferences in genetic newborn screening for rare diseases: study protocol

Author

Martin, S, Angolini, E, Audi, J, Bertini, E, Bruno, L, Coulter, J, Ferlini, A, Fortunato, F, Frankova, V, Garnier, N, Grauman, A, Gross, E, Hauber, B, Hansson, M, Kirschner, J, Knieling, F, Kyosovksa, G, Ottombrino, S, Novelli, A, Raming, R, Sansen, S, Saier, C, Veldwijk, J, Martin S., Angolini E., Audi J., Bertini E., Bruno L. P., Coulter J., Ferlini A., Fortunato F., Frankova V., Garnier N., Grauman A., Gross E., Hauber B., Hansson M., Kirschner J., Knieling F., Kyosovksa G., Ottombrino S., Novelli A., Raming R., Sansen S., Saier C., Veldwijk J., Martin, S, Angolini, E, Audi, J, Bertini, E, Bruno, L, Coulter, J, Ferlini, A, Fortunato, F, Frankova, V, Garnier, N, Grauman, A, Gross, E, Hauber, B, Hansson, M, Kirschner, J, Knieling, F, Kyosovksa, G, Ottombrino, S, Novelli, A, Raming, R, Sansen, S, Saier, C, Veldwijk, J, Martin S., Angolini E., Audi J., Bertini E., Bruno L. P., Coulter J., Ferlini A., Fortunato F., Frankova V., Garnier N., Grauman A., Gross E., Hauber B., Hansson M., Kirschner J., Knieling F., Kyosovksa G., Ottombrino S., Novelli A., Raming R., Sansen S., Saier C., and Veldwijk J.

Abstract

Introduction Rare diseases (RDs) collectively impact over 30 million people in Europe. Most individual conditions have a low prevalence which has resulted in a lack of research and expertise in this field, especially regarding genetic newborn screening (gNBS). There is increasing recognition of the importance of incorporating patients’ needs and general public perspectives into the shared decision-making process regarding gNBS. This study is part of the Innovative Medicine Initiative project Screen4Care which aims at shortening the diagnostic journey for RDs by accelerating diagnosis for patients living with RDs through gNBS and the use of digital technologies, such as artificial intelligence and machine learning. Our objective will be to assess expecting parent’s perspectives, attitudes and preferences regarding gNBS for RDs in Italy and Germany. Methods and analysis A mixed method approach will assess perspectives, attitudes and preferences of (1) expecting parents seeking genetic consultation and (2) ‘healthy’ expecting parents from the general population in two countries (Germany and Italy). Focus groups and interviews using the nominal group technique and ranking exercises will be performed (qualitative phase). The results will inform the treatment of attributes to be assessed via a survey and a discrete choice experiment (DCE). The total recruitment sample will be 2084 participants (approximatively 1000 participants in each country for the online survey). A combination of thematic qualitative and logit-based quantitative approaches will be used to analyse the results of the study. Ethics and dissemination This study has been approved by the Erlangen University Ethics Committee (22–246_1-B), the Freiburg University Ethics Committee (23–1005 S1-AV) and clinical centres in Italy (University of FerraraCE: 357/2023/Oss/ AOUFe and Hospedale Bambino Gesu: No.2997 of 2 November 2023, Prot. No. _902) and approved for data storage and handling at the Uppsala University

Published
2024

3. Fine-tuning of canted magnetization in stepped Fe films through thickness variation, Au capping, and quantum confinement

Author

Daobrowski, M, Cinal, M, Schmid, AK, Kirschner, J, and Przybylski, M

Abstract

We present a joint experimental and theoretical study that demonstrates how to efficiently control a canted state of magnetization in Fe films grown on Ag(001) vicinal surface and precisely characterize it with the magneto-optical Kerr effect. It is shown that by employing different mechanisms to tune the magnetization tilting angle, any magnetization orientation within the plane perpendicular to the step edges can be achieved. In particular, increasing the Fe film thickness leads to continuous rotation of the magnetization easy axis toward the film surface and the sense of this rotation in uncovered films is opposite to that in films covered with Au. Another tuning mechanism is provided by oscillatory changes of the tilting angle at low temperatures due to formation of quantum well states in Fe films. The observed canting of magnetization is explained within a phenomenological model by an interplay of the shape anisotropy and two magnetocrystalline anisotropy terms, perpendicular and step-induced anisotropies, which results in an effective uniaxial magnetic anisotropy. The fitted thickness dependencies of the anisotropy constants accurately reproduce experimental variations of the tilting angle with both Fe and Au thicknesses as well as transient changes of the magnetization orientation in ultrathin Fe films upon submonolayer Au coverage, observed with spin-polarized low-energy electron microscopy.

Published
2019

4. Fine-tuning of canted magnetization in stepped Fe films through thickness variation, Au capping, and quantum confinement

Author

Dąbrowski, M, Cinal, M, Schmid, AK, Kirschner, J, and Przybylski, M

Subjects
Physical Sciences, Chemical Sciences, Engineering, Fluids & Plasmas
Abstract

We present a joint experimental and theoretical study that demonstrates how to efficiently control a canted state of magnetization in Fe films grown on Ag(001) vicinal surface and precisely characterize it with the magneto-optical Kerr effect. It is shown that by employing different mechanisms to tune the magnetization tilting angle, any magnetization orientation within the plane perpendicular to the step edges can be achieved. In particular, increasing the Fe film thickness leads to continuous rotation of the magnetization easy axis toward the film surface and the sense of this rotation in uncovered films is opposite to that in films covered with Au. Another tuning mechanism is provided by oscillatory changes of the tilting angle at low temperatures due to formation of quantum well states in Fe films. The observed canting of magnetization is explained within a phenomenological model by an interplay of the shape anisotropy and two magnetocrystalline anisotropy terms, perpendicular and step-induced anisotropies, which results in an effective uniaxial magnetic anisotropy. The fitted thickness dependencies of the anisotropy constants accurately reproduce experimental variations of the tilting angle with both Fe and Au thicknesses as well as transient changes of the magnetization orientation in ultrathin Fe films upon submonolayer Au coverage, observed with spin-polarized low-energy electron microscopy.

Published
2019

5. Temperature Dependence of Magnetic Excitations: Terahertz Magnons above the Curie Temperature

Author

Qin, H. J., Zakeri, Kh., Ernst, A., and Kirschner, J.

Subjects
Condensed Matter - Materials Science, Condensed Matter - Strongly Correlated Electrons
Abstract

When an ordered spin system of a given dimensionality undergoes a second order phase transition the dependence of the order parameter i.e. magnetization on temperature can be well-described by thermal excitations of elementary collective spin excitations (magnons). However, the behavior of magnons themselves, as a function of temperature and across the transition temperature TC, is an unknown issue. Utilizing spin-polarized high resolution electron energy loss spectroscopy we monitor the high-energy (terahertz) magnons, excited in an ultrathin ferromagnet, as a function of temperature. We show that the magnons' energy and lifetime decrease with temperature. The temperature-induced renormalization of the magnons' energy and lifetime depends on the wave vector. We provide quantitative results on the temperature-induced damping and discuss the possible mechanism e.g., multi-magnon scattering. A careful investigation of physical quantities determining the magnons' propagation indicates that terahertz magnons sustain their propagating character even at temperatures far above TC., Comment: 5 Pages, 3 Figures

Published
2017
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6. Three dimensional boundary displacement due to stable ideal kink modes excited by external n=2 magnetic perturbations

Author

Willensdorfer, M., Strumberger, E., Suttrop, W., Dunne, M., Fischer, R., Birkenmeier, G., Brida, D., Cavedon, M., Denk, S. S., Igochine, V., Giannone, L., Kirk, A., Kirschner, J., Medvedeva, A., Odstrcil, T., Ryan, D. A., Team, the ASDEX Upgrade, and Team, the EUROfusion MST1

Subjects
Physics - Plasma Physics
Abstract

In low-collisionality scenarios exhibiting mitigation of edge localized modes (ELMs), stable ideal kink modes at the edge are excited by externally applied magnetic perturbation (MP)-fields. In ASDEX Upgrade these modes can cause three-dimensional (3D) boundary displacements up to the centimeter range. These displacements have been measured using toroidally localized high resolution diagnostics and rigidly rotating n = 2 MP-fields with various applied poloidal mode spectra. These measurements are compared to non-linear 3D ideal magnetohydrodynamics (MHD) equilibria calculated by VMEC. Comprehensive comparisons have been conducted, which consider for instance plasma movements due to the position control system, attenuation due to internal conductors and changes in the edge pressure profiles. VMEC accurately reproduces the amplitude of the displacement and its dependencies on the applied poloidal mode spectra. Quantitative agreement is found around the low field side (LFS) midplane. The response at the plasma top is qualitatively compared. The measured and predicted displacements at the plasma top maximize when the applied spectra is optimized for ELM-mitigation. The predictions from the vacuum modeling generally fails to describe the displacement at the LFS midplane as well as at the plasma top. When the applied mode spectra is set to maximize the displacement, VMEC and the measurements clearly surpass the predictions from the vacuum modeling by a factor of four. Minor disagreements between VMEC and the measurements are discussed. This study underlines the importance of the stable ideal kink modes at the edge for the 3D boundary displacement in scenarios relevant for ELM-mitigation., Comment: 22 pages, 12 figure, for submission to nuclear fusion

Published
2017
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7. Asymmetric Spin-wave Dispersion on Fe(110): Direct Evidence of Dzyaloshinskii--Moriya Interaction

Author

Zakeri, Kh., Zhang, Y., Prokop, J., Chuang, T. -H., Sakr, N., Tang, W. X., and Kirschner, J.

Subjects
Condensed Matter - Materials Science, Condensed Matter - Other Condensed Matter
Abstract

The influence of the Dzyaloshinskii-Moriya interaction on the spin-wave dispersion in an Fe double layer grown on W(110) is measured for the first time. It is demonstrated that the Dzyaloshinskii-Moriya interaction breaks the degeneracy of spin waves and leads to an asymmetric spin-wave dispersion relation. An extended Heisenberg spin Hamiltonian is employed to obtain the longitudinal component of the Dzyaloshinskii-Moriya vectors from the experimentally measured energy asymmetry.

Published
2017
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9. The role of electron confinement in Pd films for the oscillatory magnetic anisotropy in an adjacent Co layer

Author

Manna, Sujit, Przybylski, M., Sander, D., and Kirschner, J.

Subjects
Condensed Matter - Mesoscale and Nanoscale Physics
Abstract

We demonstrate the interplay between quantum well states in Pd and the magnetic anisotropy in Pd/Co/Cu(001) by combined scanning tunneling spectroscopy (STS) and magneto optical Kerr effect (MOKE) measurements. Low temperature scanning tunneling spectroscopy reveals occupied and unoccupied quantum well states (QWS) in atomically flat Pd films on Co/Cu(001). These states give rise to sharp peaks in the differential conductance spectra. A quantitative analysis of the spectra reveals the electronic dispersion of the Pd(001) d-band ($\Delta$$_5$-type) along the $\Gamma$-X direction. \textit{In-situ} MOKE experiments on Pd/Co/Cu(1, 1, 13) uncover a periodic variation of the in-plane uniaxial magnetic anisotropy as a function of Pd thickness with a period of 6 atomic layers Pd. STS shows that QWS in Pd cross the Fermi level with the same periodicity of 6 atomic layers. Backed by previous theoretical work we ascribe the variation of the magnetic anisotropy in Co to QWS in the Pd overlayer. Our results suggest a novel venue towards tailoring uniaxial magnetic anisotropy of ferromagnetic films by exploiting QWS in an adjacent material with large spin-orbit coupling., Comment: 9 pages including 6 figures

Published
2016
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12. The emerging spectrum of neurodevelopmental comorbidities in early-onset Spinal Muscular Atrophy

Author

Baranello, Giovanni, Roy, S. Q., Servais, L., Munell, F., Molinero, M. A., Natera de Benito, D., Nascimento, A., Gomez-Andres, D., Comellas, L. C., Exposito, J., Tizzano, E. F., Cuppen, I., Van der Pol, L., Aleman, A., Lochmuller, H., Mcmillan, H., Kirschner, J., Muller, C., Oskoui, M., Masson, R., Bruno, C., Gonorazky, H. D., Tesi-Rocha, C., Yaworski, A. M., Zanoteli, E., Mendonca, R., D'Amico, A., Cumbo, F., Tosi, Clelia Maria, Pane, Marika, Mercuri, Eugenio Maria, Nardes, F., Prufer, A., Arci, B. K., Pascual, S. I., Fattal-Valevski, A., De Waele, L., Deconinck, N., Farrar, M., Haberlova, J., Gomez-Garcia de la Banda, M., Childs, A. -M., Martos, C., Wraige, E., Gowda, V., Illingworth, M., Ong, M., Majundar, A., Hughes, I., Torne, K., Willis, T., Ramdas, S., De Goede, C., Erbas, Y., Brusa, C., Scoto, M., Muntoni, F., Baranello G., Tosi M., Pane M. (ORCID:0000-0002-4851-6124), Mercuri E. (ORCID:0000-0002-9851-5365), Baranello, Giovanni, Roy, S. Q., Servais, L., Munell, F., Molinero, M. A., Natera de Benito, D., Nascimento, A., Gomez-Andres, D., Comellas, L. C., Exposito, J., Tizzano, E. F., Cuppen, I., Van der Pol, L., Aleman, A., Lochmuller, H., Mcmillan, H., Kirschner, J., Muller, C., Oskoui, M., Masson, R., Bruno, C., Gonorazky, H. D., Tesi-Rocha, C., Yaworski, A. M., Zanoteli, E., Mendonca, R., D'Amico, A., Cumbo, F., Tosi, Clelia Maria, Pane, Marika, Mercuri, Eugenio Maria, Nardes, F., Prufer, A., Arci, B. K., Pascual, S. I., Fattal-Valevski, A., De Waele, L., Deconinck, N., Farrar, M., Haberlova, J., Gomez-Garcia de la Banda, M., Childs, A. -M., Martos, C., Wraige, E., Gowda, V., Illingworth, M., Ong, M., Majundar, A., Hughes, I., Torne, K., Willis, T., Ramdas, S., De Goede, C., Erbas, Y., Brusa, C., Scoto, M., Muntoni, F., Baranello G., Tosi M., Pane M. (ORCID:0000-0002-4851-6124), and Mercuri E. (ORCID:0000-0002-9851-5365)

Abstract

n/a

Published
2024

13. Ferromagnetism of Pd(001) substrate induced by Antiferromagnetic CoO

Author

Saha, S. K., Stepanyuk, V. S., and Kirschner, J.

Subjects
Condensed Matter - Materials Science
Abstract

Our first-principles study has revealed unexpected spin polarization of the Pd(001) substrate in contact with antiferromagnetic CoO overlayers. We give an evidence that the ferromagnetism of Pd is caused by the zigzag positions of Co atoms with respect to the Pd interface, resulted from the lattice-mismatch driven structural relaxation. Thanks to the itinerant nature of its 4d electrons, we see that the ferromagnetic properties of Pd are highly sensitive to the local environment and can be enhanced further by increasing the thickness of CoO overlayer film or/and by applying an additional uniaxial pressure along c-axis exerted externally on the bottom layers of the Pd substrate. Our finding provides new functionality for the interfacial moments of the CoO/Pd system, which can be accessed experimentally, e.g., by the magneto-optical Kerr effect (MOKE) or/and by element-resolved X-ray magnetic circular dichroism (XMCD) measurement.

Published
2015
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14. Canted stripe phase evolution due to a spin reorientation transition in Fe films grown on Ag(001) vicinal surface

Author

Dabrowski, M, Cinal, M, Przybylski, M, Chen, G, N'Diaye, AT, Schmid, AK, and Kirschner, J

Abstract

The evolution of the domain structure with the thickness of bcc Fe films deposited on the Ag(116) vicinal surface is studied by spin-polarized low-energy electron microscopy. We show that a spin reorientation transition proceeds via two mechanisms: continuous rotation of magnetization within the vertical plane perpendicular to the steps and discontinuous reorientation of the in-plane component of magnetization, leading to splitting of the domains. In contrast to previously investigated systems with stripe domains, we reveal that in the case of a vicinal ferromagnetic surface, the domain width increases while changing the orientation of the magnetization from a canted out-of-plane state into an in-plane state. A theoretical model developed in this work successfully describes the domain structure behavior observed in our experiments and can be equally applied to other ferromagnetic films grown on vicinal surfaces.

Published
2016

15. The Multiple Sclerosis Inventory of Cognition for Adolescents (MUSICADO): A brief screening instrument to assess cognitive dysfunction, fatigue and loss of health-related quality of life in pediatric-onset multiple sclerosis

Author

Kraus, V., Dornfeld, E., Elpers, C., Lohmann, H., Weddige, A., Hagspiel, S., Kirschner, J., Brehm, M., Blank, C., Schubert, J., Schimmel, M., Pacheè, S., Mohrbach, M., Karenfort, M., Kamp, G., Lücke, T., Neumann, H., Lutz, S., Gierse, A., Sievers, S., Schiffmann, H., de Soye, I., Trollmann, R., Candova, A., Rosner, M., Neu, A., Romer, G., Seidel, U., John, R., Hofmann, C., Schulz, Kinder, S., Bertolatus, A., Scheidtmann, K., Lasogga, R., Leiz, S., Alber, M., Kranz, J., Bajer-Kornek, B., Seidl, R., Novak, A., Storm van's Gravesande, K., Calabrese, P., Blaschek, A., Rostásy, K., Huppke, P., Rothe, L., Mall, V., Kessler, J., and Kalbe, E.

Published
2019
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16. P196 Age at loss of ambulation in patients with DMD from the STRIDE registry and the CINRG natural history study: a matched cohort analysis

Author

Mercuri, E., primary, Muntoni, F., additional, Buccella, F., additional, Desguerre, I., additional, Kirschner, J., additional, Osorio, A Nascimento, additional, Tulinius, M., additional, de Resende, M., additional, Morgenroth, L., additional, Gordish-Dressman, H., additional, Johnson, S., additional, Werner, C., additional, Anbu, B., additional, Liu, E., additional, Rajbhandari, R., additional, Trifillis, P., additional, and McDonald, C., additional

Published
2023
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17. P198 Updated demographics and safety data from patients with nonsense mutation Duchenne muscular dystrophy receiving ataluren in the STRIDE registry

Author

Muntoni, F., primary, Buccella, F., additional, Desguerre, I., additional, Kirschner, J., additional, Osorio, A Nascimento, additional, Tulinius, M., additional, de Resende, M., additional, Johnson, S., additional, Werner, C., additional, Anbu, B., additional, Liu, E., additional, Rajbhandari, R., additional, Trifillis, P., additional, and Mercuri, E., additional

Published
2023
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18. P230 Safety update: Risdiplam clinical trial program for spinal muscular atrophy (SMA)

Author

Baranello, G., primary, Chiriboga, C., additional, Servais, L., additional, Darras, B., additional, Day, J., additional, Deconinck, N., additional, Farrar, M., additional, Finkel, R., additional, Bertini, E., additional, Kirschner, J., additional, Rasson, M., additional, Mazurkiewicz-Bełdzińska, M., additional, Vlodavets, D., additional, Bader-Weder, S., additional, Gorni, K., additional, Jaber, B., additional, Yeung, W., additional, Papp, G., additional, Scalco, R., additional, and Mercuri, E., additional

Published
2023
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19. P197 Pulmonary function in patients with Duchenne muscular dystrophy from the STRIDE registry and CINRG natural history study: a matched cohort analysis

Author

Tulinius, M., primary, Buccella, F., additional, Desguerre, I., additional, Kirschner, J., additional, Mercuri, E., additional, Muntoni, F., additional, Osorio, A Nascimento, additional, de Resende, M., additional, Morgenroth, L., additional, Gordish-Dressman, H., additional, Johnson, S., additional, Werner, C., additional, Anbu, B., additional, Liu, E., additional, Rajbhandari, R., additional, Trifillis, P., additional, and McDonald, C., additional

Published
2023
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22. A randomized placebo-controlled phase 3 trial of an antisense oligonucleotide, drisapersen, in Duchenne muscular dystrophy

Author

Araujo, A., Bertini, E., Born, P., Cances, C., Chabrol, B., Chae, J.-H., Colomer Oferil, J., Comi, G.P., Cuisset, J.-M., D'Anjou, G., Desguerre, I., Erazo Torricelli, R., Escobar, R., Feder, D., Ferlini, A., Giugliani, R., Henricson, E., Herczegfalvi, A., Jong, Y.-J., Kimura, S., Kirschner, J.-B., Kleinsteuber, K., Kostera-Pruszczyk, A., Kudr, M., Mueller-Felber, W., Niks, E.H., Ogata, K., Palermo, C., Pane, M., Pascual, I., Pereon, Y., Raskin, S., Rasmussen, M., Reed, U., Schara, U., Selby, K., Sobreira, C., Takeshima, Y., Vilchez Padilla, J.J., Vita, G., Vondracek, P., Wiegand, G., Wilichowski, E., Goemans, Nathalie, Mercuri, Eugenio, Belousova, Elena, Komaki, Hirofumi, Dubrovsky, Alberto, McDonald, Craig M., Kraus, John E., Lourbakos, Afrodite, Lin, Zhengning, Campion, Giles, Wang, Susanne X., and Campbell, Craig

Published
2018
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23. Characterization of pulmonary function in 10–18 year old patients with Duchenne muscular dystrophy

Author

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., Meier, Thomas, Rummey, Christian, Leinonen, Mika, Spagnolo, Paolo, Mayer, Oscar H., and Buyse, Gunnar M.

Published
2017
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26. Safety, tolerability and pharmacokinetics of eteplirsen in young boys aged 6–48 months with Duchenne muscular dystrophy amenable to exon 51 skipping

Author

Mercuri, Eugenio Maria, Seferian, A. M., Servais, L., Deconinck, N., Stevenson, H., Ni, X., Zhang, W., East, L., Yonren, S., Muntoni, F., Van Coster, R., Vanlander, A., Seferian, A., De Lucia, Sara Sofia, Gidaro, T., Brande, L. V., Kirschner, J., Borell, S., Brogna, Claudia, Pane, Marika, Fanelli, L., Norcia, G., Brusa, C., Chesshyre, M., Maresh, K., Pitchforth, J., Schottlaender, L., Scoto, M., Silwal, A., Trucco, F., Mercuri E. (ORCID:0000-0002-9851-5365), De Lucia S., Brogna C., Pane M. (ORCID:0000-0002-4851-6124), Mercuri, Eugenio Maria, Seferian, A. M., Servais, L., Deconinck, N., Stevenson, H., Ni, X., Zhang, W., East, L., Yonren, S., Muntoni, F., Van Coster, R., Vanlander, A., Seferian, A., De Lucia, Sara Sofia, Gidaro, T., Brande, L. V., Kirschner, J., Borell, S., Brogna, Claudia, Pane, Marika, Fanelli, L., Norcia, G., Brusa, C., Chesshyre, M., Maresh, K., Pitchforth, J., Schottlaender, L., Scoto, M., Silwal, A., Trucco, F., Mercuri E. (ORCID:0000-0002-9851-5365), De Lucia S., Brogna C., and Pane M. (ORCID:0000-0002-4851-6124)

Abstract

Eteplirsen is FDA-approved for the treatment of Duchenne muscular dystrophy (DMD) in exon 51 skip-amenable patients. Previous studies in boys > 4 years of age indicate eteplirsen is well tolerated and attenuates pulmonary and ambulatory decline compared with matched natural history cohorts. Here the safety, tolerability and pharmacokinetics of eteplirsen in boys aged 6–48 months is evaluated. In this open-label, multicenter, dose-escalation study (NCT03218995), boys with a confirmed mutation of the DMD gene amenable to exon 51 skipping (Cohort 1: aged 24–48 months, n = 9; Cohort 2: aged 6 to < 24 months, n = 6) received ascending doses (2, 4, 10, 20, 30 mg/kg) of once-weekly eteplirsen intravenously over 10 weeks, continuing at 30 mg/kg up to 96 weeks. Endpoints included safety (primary) and pharmacokinetics (secondary). All 15 participants completed the study. Eteplirsen was well tolerated with no treatment-related discontinuations, deaths or evidence of kidney toxicity. Most treatment-emergent adverse events were mild; most common were pyrexia, cough, nasopharyngitis, vomiting, and diarrhea. Eteplirsen pharmacokinetics were consistent between both cohorts and with previous clinical experience in boys with DMD > 4 years of age. These data support the safety and tolerability of eteplirsen at the approved 30-mg/kg dose in boys as young as 6 months old.

Published
2023

27. Correction to: Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study (Neurology and Therapy, (2023), 12, 2, (543-557), 10.1007/s40120-023-00444-1)

Author

Chiriboga, C. A., Bruno, C., Duong, T., Fischer, D., Mercuri, Eugenio Maria, Kirschner, J., Kostera-Pruszczyk, A., Jaber, B., Gorni, K., Kletzl, H., Carruthers, I., Martin, Craig, Warren, F., Scalco, R. S., Wagner, K. R., Muntoni, F., Deconinck, N., Balikova, I., Joniau, I., Tahon, V., Wittevrongel, S., Goemans, N., Cassiman, C., Prove, L., Vancampenhout, L., van den Hauwe, M., Van Impe, A., Cances, C., Soler, V., De La Morandais, L. M., Vovan, D., Cintas, P., Auriol, F., Mus, M., Alphonsa, G., Bellio, V., Gil Mato, O., Flamein, F., Evrard, C., Ziouche, A., Bouacha-Allou, I., Debruyne, P., Derlyn, G., Defoort, S., Leroy, F., Danjoux, L., Desguerre, I., Bremond-Gignac, D., Rateuax, M., Deladriere, E., Vuillerot, C., Veillerot, Q., Sibille-Dabadi, B., Barriere, A., Tinat, M., Saidi, M., Fontaine, S., De Montferrand, C., Le-Goff, L., Portefaix, A., Louvier, U. W., Duval, P. -A., Caradec, P., Touati, S., Herranz, A. Z., Bollig, J., Molnar, F., Vogt, S., Pechmann, A., Schorling, D., Wider, S., Kolbel, H., Schara, U., Braun, F., Gangfuss, A., Hagenacker, T., Eckstein, A., Dekowski, D., Oeverhaus, M., Stoehr, M., Andres, B., Smuda, K., Bertini, Enrico Silvio, D'Amico, A., Petroni, S., Valente, Paola, Bonetti, A. M., Carlesi, A., Mizzoni, I., Pedemonte, M., Brolatti, N., Priolo, E., Rao, G., Sposetti, L., Morando, S., Comi, G., Osnaghi, S., Minorini, V., Abbati, F., Fassini, F., Foa, M., Lopopolo, M. A., Magri, F., Govoni, A., Meneri, M., Parente, V., Antonaci, Laura, Pera, Maria Carmela, Pane, Marika, Amorelli, Giulia Maria, Barresi, C., D'Amico, Guglielmo, Orazi, Lorenzo, Coratti, Giorgia, De Sanctis, Roberto, Vita, G., Sframeli, M., Vita, G. L., Aragona, P., Inferrera, L., Postorino, E. I., Montanini, D., Di Bella, V., Donato, C., Cala, E., Van der Pol, L., Aalbers, J., de Boer, J., Imhof, S., Cooijmans, P., Ruyten, T., Van Der Woude, D., Klimaszewska, B., Romanczak, D., Gierlak-Wojcicka, Z., Kepa, M., Sikorski, A., Sobieraj, M., Lusakowska, A., Kierdaszuk, B., Czeczko, K., Henzi, B., Gugleta, K., Kusnyerik, A., Siems, P., Akos, S., Frei, N., Seppi, C., Haschke, C. W., Guglieri, M., Straub, V., Bell, R., Nassar, M., Page, S., Clarke, M. P., Regan, A., Mayhew, A., Lofra, R. M., Parasuraman, D., Bruschi, Sara, Ghauri, A. -J., Castle, A., Naqvi, S., Patt, N., Scoto, M., Trucco, F., Henderson, R. H., Kukadia, R., Moore, W., Milev, E., Rye, C., Selby, V., Wolfe, A., Darras, B., Baglieri, A. M., Fulton, A., Lucken, C., Maczek, E., Pasternak, A., Kane, S., Bautista, M. E. M., Frommer, E., Pensec, N., Salazar, R., Yochai, C., Rodrigues-Torres, R., Chawla, M., Day, J., Beres, S., Gee, R., Young, S. D., Finkel, R., Nazario, A. N., Fasiuddin, A., Wells, J. A., Wilson, J., Berry, D., Rizzo, V., Duke, J., Monduy, M., Collado, J., Mercuri E. (ORCID:0000-0002-9851-5365), Martin C., Bertini E., Valente P., Antonaci L., Pera M. C. (ORCID:0000-0001-6777-1721), Pane M. (ORCID:0000-0002-4851-6124), Amorelli G. M., D'Amico G., Orazi L., Coratti G. (ORCID:0000-0001-6666-5628), De Sanctis R., Bruschi S., Chiriboga, C. A., Bruno, C., Duong, T., Fischer, D., Mercuri, Eugenio Maria, Kirschner, J., Kostera-Pruszczyk, A., Jaber, B., Gorni, K., Kletzl, H., Carruthers, I., Martin, Craig, Warren, F., Scalco, R. S., Wagner, K. R., Muntoni, F., Deconinck, N., Balikova, I., Joniau, I., Tahon, V., Wittevrongel, S., Goemans, N., Cassiman, C., Prove, L., Vancampenhout, L., van den Hauwe, M., Van Impe, A., Cances, C., Soler, V., De La Morandais, L. M., Vovan, D., Cintas, P., Auriol, F., Mus, M., Alphonsa, G., Bellio, V., Gil Mato, O., Flamein, F., Evrard, C., Ziouche, A., Bouacha-Allou, I., Debruyne, P., Derlyn, G., Defoort, S., Leroy, F., Danjoux, L., Desguerre, I., Bremond-Gignac, D., Rateuax, M., Deladriere, E., Vuillerot, C., Veillerot, Q., Sibille-Dabadi, B., Barriere, A., Tinat, M., Saidi, M., Fontaine, S., De Montferrand, C., Le-Goff, L., Portefaix, A., Louvier, U. W., Duval, P. -A., Caradec, P., Touati, S., Herranz, A. Z., Bollig, J., Molnar, F., Vogt, S., Pechmann, A., Schorling, D., Wider, S., Kolbel, H., Schara, U., Braun, F., Gangfuss, A., Hagenacker, T., Eckstein, A., Dekowski, D., Oeverhaus, M., Stoehr, M., Andres, B., Smuda, K., Bertini, Enrico Silvio, D'Amico, A., Petroni, S., Valente, Paola, Bonetti, A. M., Carlesi, A., Mizzoni, I., Pedemonte, M., Brolatti, N., Priolo, E., Rao, G., Sposetti, L., Morando, S., Comi, G., Osnaghi, S., Minorini, V., Abbati, F., Fassini, F., Foa, M., Lopopolo, M. A., Magri, F., Govoni, A., Meneri, M., Parente, V., Antonaci, Laura, Pera, Maria Carmela, Pane, Marika, Amorelli, Giulia Maria, Barresi, C., D'Amico, Guglielmo, Orazi, Lorenzo, Coratti, Giorgia, De Sanctis, Roberto, Vita, G., Sframeli, M., Vita, G. L., Aragona, P., Inferrera, L., Postorino, E. I., Montanini, D., Di Bella, V., Donato, C., Cala, E., Van der Pol, L., Aalbers, J., de Boer, J., Imhof, S., Cooijmans, P., Ruyten, T., Van Der Woude, D., Klimaszewska, B., Romanczak, D., Gierlak-Wojcicka, Z., Kepa, M., Sikorski, A., Sobieraj, M., Lusakowska, A., Kierdaszuk, B., Czeczko, K., Henzi, B., Gugleta, K., Kusnyerik, A., Siems, P., Akos, S., Frei, N., Seppi, C., Haschke, C. W., Guglieri, M., Straub, V., Bell, R., Nassar, M., Page, S., Clarke, M. P., Regan, A., Mayhew, A., Lofra, R. M., Parasuraman, D., Bruschi, Sara, Ghauri, A. -J., Castle, A., Naqvi, S., Patt, N., Scoto, M., Trucco, F., Henderson, R. H., Kukadia, R., Moore, W., Milev, E., Rye, C., Selby, V., Wolfe, A., Darras, B., Baglieri, A. M., Fulton, A., Lucken, C., Maczek, E., Pasternak, A., Kane, S., Bautista, M. E. M., Frommer, E., Pensec, N., Salazar, R., Yochai, C., Rodrigues-Torres, R., Chawla, M., Day, J., Beres, S., Gee, R., Young, S. D., Finkel, R., Nazario, A. N., Fasiuddin, A., Wells, J. A., Wilson, J., Berry, D., Rizzo, V., Duke, J., Monduy, M., Collado, J., Mercuri E. (ORCID:0000-0002-9851-5365), Martin C., Bertini E., Valente P., Antonaci L., Pera M. C. (ORCID:0000-0001-6777-1721), Pane M. (ORCID:0000-0002-4851-6124), Amorelli G. M., D'Amico G., Orazi L., Coratti G. (ORCID:0000-0001-6666-5628), De Sanctis R., and Bruschi S.

Abstract

In this article the JEWELFISH Study Group members were missing in the Acknowledgements. The collaborator names are corrected in the supplementary material and the complete list is given below. In Table 1, footnote symbol ‘g’ was incorrectly written as ‘f’ in the entries Non-sitters—2 (14)g and Sitters-12 (86)g under column Onasemnogene abeparvovec of section Motor function, n (%)f. The original article has been corrected.

Published
2023

28. Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophy

Author

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, and Buyse, Gunnar M.

Published
2016
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29. Real-World Data on the Efficacy of Gene Replacement Therapy for Spinal Muscular Atrophy (SMA).

Author

Weiß, C., Becker, L.-L., Friese, J., Blaschek, A., Hahn, A., Illsinger, S., Schwartz, O., Bernert, G., von der Hagen, M., Husain, R. A., Goldhahn, K., Pechmann, A., Kirschner, J., Flotats-Bastardas, M., Schreiber, G., Schara, U., Plecko, B., Trollmann, R., Horber, V., and Wilichowski, E.

Subjects
SPINAL muscular atrophy, GENE therapy, GROSS motor ability, NEWBORN screening, GENE targeting
Abstract

This article presents long-term data on the efficacy of gene replacement therapy (GRT) for spinal muscular atrophy (SMA) using onasemnogene abeparvovec (OA). The study includes patients who were older, heavier, or more severely affected than those in previous clinical trials, as well as a large cohort of presymptomatic SMA patients identified through newborn screening. The results show that younger patients treated with OA had better motor function outcomes compared to those treated at a later age. The study provides valuable evidence for future treatment decisions, particularly for patients with limited trial data available. [Extracted from the article]

Published
2023
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30. Ocular Myasthenia: It's Worth a Second Look.

Author

Friedrich, S., Gastaldi, M., Eckenweiler, M., Lochmüller, H., Kirschner, J., and Pechmann, A.

Subjects
MUSCLE weakness, MYASTHENIA gravis, TREATMENT effectiveness, DIPLOPIA, ELECTROPHYSIOLOGY, PERIODICAL publishing
Abstract

This article, published in the journal Neuropediatrics, discusses a case of ocular myasthenia, a common presentation of myasthenia gravis (MG) in children. The case presented challenges in diagnosis and treatment, requiring specialized laboratory tests and high doses of pyridostigmine. The patient initially had right-sided ptosis and diplopia, which worsened and showed rapid alteration. Despite negative ACh-receptor antibodies and normal CSF, MRI, and electrophysiology results, the patient was successfully treated with pyridostigmine. The article highlights the importance of live cell-based assays in confirming the diagnosis of ocular MG when other tests are negative, and suggests that higher doses of pyridostigmine may be necessary for successful treatment. [Extracted from the article]

Published
2023
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35. Adrenal function recovery after durable oral corticosteroid sparing with benralizumab in the PONENTE study

Author

Menzies-Gow, A., Gurnell, M., Heaney, L. G., Corren, J., Bel, E. H., Maspero, J., Harrison, T., Jackson, D. J., Price, D., Lugogo, N., Kreindler, J., Burden, A., de Giorgio-Miller, A., Faison, S., Padilla, K., Martin, U. J., Gil, E. G., Ardusso, L., Bazerque, R. F., Doreski, P. A. C., Elias, P. C., Gattolin, G., Medina, A. C., Ruiz, X. B., Salvado, A., Del Olmo Sansone, R. A., Wehbe, L., Verra, F. J. B., Brusselle, G., Pilette, C., Martinot, J. -B., Antila, M. A., Blanco, D. C., Cerci, A., Cunha, T. M., Fiss, E., Franza, L., Machado, A. S., De Mattos, W. L. L. D., Grava, S., Minamoto, S. E. T., De Oliveira, C. A., Cheema, A. S., Dorscheid, D., Fera, T. A. E., Gagnon, R., Philteos, G., Sussman, G., Yang, W. H. -C., Aguilar, C. D., Jaller, R., Jazime, M. L., Serrano, F. O., Vanegas, A. C., Vargas, L. K., Villegas, M. F., Hilberg, O., Nielsen, H. B., Nielsen, J., Weinreich, U. M., Ulrik, C. S., Adam, S. M., Deslee, G., Pegliasco, H., Pradelli, J., Roux, P. -M., Russier, M., Deckelmann, R., Eich, A., Forster, A., Herth, F., Kirschner, J., Kirsten, A. -M., Schuhmann, M., Schultz, T. K., Ludwig-Sengpiel, A., Teber, I., Zimmermann, G. S., Almerigogna, F., Celi, A., Paggiaro, P., D'Amato, M., Palange, P., Pirina, P., Spanevello, A., Colin, D. D. H., Hernandez, A. R., Garcia, E. A. R., Gonzalez, E. M., Terrones, R. A. R., Javier, R. C., Suarez, J. F. R., Cheimihska, M., Cudzik, K., Olech-Cudzik, A., Filipek, K., Golinski, L., Kwasniewski, A., Madra-Rogacka, D., Mroz, R., Nittner-Marszalska, M., Pawlukiewicz, M., Lekarska, P. P., Pioszczuk, A., Springer, E., Swiderska, A., Zurowska-Gebala, M., Emelyanov, A. V., Kurbacheva, O., Odegova, A., Peskov, A., Petrov, D. V., Rubanik, T. V., Vasilev, M., Vershinina, M., Barcala, F. J. G., Blanco, V. R., Fernandez, A. M. P., Fernandez, C. G., Garcia, J. M. I., Munoz, A. V. A., Ramos, C. C., Sanz, C. C., Bjermer, L., Chen, C. -Y., Fang, W. -F., Hang, L. -W., Hsu, J. -Y., Kuo, H. -P., Lee, K. -Y., Shen, S. -Y., Sheu, C. -C., Gore, R., Saralaya, D., Alpizar, S. A., Bansal, S., Ismail, H., Kaelin, T. D., Koura, F., Lee, M. D., Maddipati, V., Malur, A., Mcevoy, C. E., Mehta, H., Mohan, A., Moore, W. C., Krings, J., Pippins, A., Deaton, I., Hmieleski, B., Field, P., Reibman, J., Siri, D. D., Sumino, K., Swenson, C., Tilley, S. L., Villareal, M., Pulmonology, and Pulmonary medicine

Subjects
Pulmonary and Respiratory Medicine, Adrenal Cortex Hormones, Humans, Anti-Asthmatic Agents, Recovery of Function, Asthma, Adrenal Insufficiency
Abstract

BackgroundOral corticosteroid (OCS) dependence among patients with severe eosinophilic asthma can cause adverse outcomes, including adrenal insufficiency. PONENTE's OCS reduction phase showed that, following benralizumab initiation, 91.5% of patients eliminated corticosteroids or achieved a final dosage ≤5 mg·day−1(median (range) 0.0 (0.0–40.0) mg).MethodsThe maintenance phase assessed the durability of corticosteroid reduction and further adrenal function recovery. For ∼6 months, patients continued benralizumab 30 mg every 8 weeks without corticosteroids or with the final dosage achieved during the reduction phase. Investigators could prescribe corticosteroids for asthma exacerbations or increase daily dosages for asthma control deteriorations. Outcomes included changes in daily OCS dosage, Asthma Control Questionnaire (ACQ)-6 and St George's Respiratory Questionnaire (SGRQ), as well as adrenal status, asthma exacerbations and adverse events.Results598 patients entered PONENTE; 563 (94.1%) completed the reduction phase and entered the maintenance phase. From the end of reduction to the end of maintenance, the median (range) OCS dosage was unchanged (0.0 (0.0–40.0) mg), 3.2% (n=18/563) of patients experienced daily dosage increases, the mean ACQ-6 score decreased from 1.26 to 1.18 and 84.5% (n=476/563) of patients were exacerbation free. The mean SGRQ improvement (–19.65 points) from baseline to the end of maintenance indicated substantial quality-of-life improvements. Of patients entering the maintenance phase with adrenal insufficiency, 32.4% (n=104/321) demonstrated an improvement in adrenal function. Adverse events were consistent with previous reports.ConclusionsMost patients successfully maintained maximal OCS reduction while achieving improved asthma control with few exacerbations and maintaining or recovering adrenal function.

Published
2022
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37. P.113 Safety update: Risdiplam clinical trial development program

Author

Chiriboga, C., primary, Servais, L., additional, Baranello, G., additional, Darras, B., additional, Day, J., additional, Deconinck, N., additional, Farrar, M., additional, Finkel, R., additional, Bertini, E., additional, Kirschner, J., additional, Masson, R., additional, Mazurkiewicz-Bełdzińska, M., additional, Vlodavets, D., additional, Bader-Weder, S., additional, Gorni, K., additional, Jaber, B., additional, McIver, T., additional, Papp, G., additional, Scalco, R., additional, and Mercuri, E., additional

Published
2022
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38. P.110 JEWELFISH: 24-month safety and pharmacodynamic data in non-treatment-naïve patients with spinal muscular atrophy (SMA)

Author

Chiriboga, C., primary, Bruno, C., additional, Duong, T., additional, Fischer, D., additional, Kirschner, J., additional, Scoto, M., additional, Mercuri, E., additional, Gerber, M., additional, Gorni, K., additional, Kletzl, H., additional, Carruthers, I., additional, Martin, C., additional, Gidaro, T., additional, and Muntoni, F., additional

Published
2022
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39. P.103 Onasemnogene abeparvovec (OA) treatment outcomes by patient weight at infusion: Initial findings from the RESTORE registry

Author

Servais, L., primary, Benguerba, K., additional, De Vivo, D., additional, Kirschner, J., additional, Mercuri, E., additional, Muntoni, F., additional, Proud, C., additional, Tizzano, E., additional, Quijano-Roy, S., additional, Saito, K., additional, Raju, D., additional, LaMarca, N., additional, Sun, R., additional, Anderson, F., additional, Faulkner, E., additional, and Finkel, R., additional

Published
2022
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40. VP.20 Cathepsin D as biomarker in CSF of nusinersen-treated patients with spinal muscular atrophy

Author

Schorling, D., primary, Kölbel, H., additional, Hentschel, A., additional, Pechmann, A., additional, Meyer, N., additional, Wirth, B., additional, Rombo, R., additional, Consortium, A. SMArtCARE, additional, Sickmann, A., additional, Kirschner, J., additional, Schara-Schmidt, U., additional, Lochmüller, H., additional, and Roos, A., additional

Published
2022
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41. P.35 Genetic newborn screening and digital technologies to accelerate rare disease diagnosis: The EU-IMI screen4Care project

Author

Ferlini, A., primary, Fortunato, F., additional, Farnè, M., additional, Selvatici, R., additional, Blankart, C., additional, Röttger, R., additional, Kirschner, J., additional, Schenk, J., additional, Zarakowska, K., additional, Zschüntzsch, J., additional, Man, Y., additional, Goodman, L., additional, Gross, E., additional, and Garnier, N., additional

Published
2022
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42. P.122 Comparative safety and efficacy of different corticosteroid regimens in boys with Duchenne muscular dystrophy: results of a randomized controlled trial

Author

Guglieri, M., primary, McDermott, M., additional, Bushby, K., additional, Hart, K., additional, Tawil, R., additional, Martens, W., additional, Herr, B., additional, McColl, E., additional, Speed, C., additional, Wilkinson, J., additional, Kirschner, J., additional, King, W., additional, Eagle, M., additional, Brown, M., additional, Willis, W., additional, and Griggs, R., additional

Published
2022
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43. VP.51 Impact of nusinersen on caregiver experience and health-related quality of life (HRQoL) when initiated in the presymptomatic stage of SMA in NURTURE

Author

Kirschner, J., primary, Crawford, T., additional, Ryan, M., additional, Finkel, R., additional, Swoboda, K., additional, De Vivo, D., additional, Bertini, E., additional, Hwu, H., additional, Sansone, V., additional, Pechmann, A., additional, Montes, J., additional, Krasinski, D., additional, Chin, R., additional, Berger, Z., additional, Zhu, C., additional, Raynaud, S., additional, Paradis, A., additional, and Johnson, N., additional

Published
2022
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44. P.23 Pulmonary function in patients with Duchenne muscular dystrophy from the STRIDE Registry and CINRG Natural History Study: a matched cohort analysis

Author

Tulinius, M., primary, Buccella, F., additional, Desguerre, I., additional, Kirschner, J., additional, Mercuri, E., additional, Muntoni, F., additional, Osorio, A. Nascimento, additional, Morgenroth, L., additional, Gordish-Dressman, H., additional, Johnson, S., additional, Werner, C., additional, Jiang, J., additional, Li, J., additional, Jia, J., additional, Trifillis, P., additional, and McDonald, C., additional

Published
2022
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45. P.22 Age at loss of ambulation in patients with DMD from the STRIDE registry and the CINRG natural history study: A matched cohort analysis

Author

Mercuri, E., primary, Muntoni, F., additional, Buccella, F., additional, Desguerre, I., additional, Kirschner, J., additional, Osorio, A. Nascimento, additional, Tulinius, M., additional, Morgenroth, L., additional, Gordish-Dressman, H., additional, Johnson, S., additional, Werner, C., additional, Jiang, J., additional, Li, J., additional, Jia, J., additional, Trifillis, P., additional, and McDonald, C., additional

Published
2022
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46. P.19 Updated demographics and safety data from patients with nonsense mutation Duchenne muscular dystrophy receiving ataluren in the STRIDE Registry

Author

Muntoni, F., primary, Buccella, F., additional, Desguerre, I., additional, Kirschner, J., additional, Osorio, A. Nascimento, additional, Tulinius, M., additional, Johnson, S., additional, Werner, C., additional, Jiang, J., additional, Li, J., additional, Jia, J., additional, Trifillis, P., additional, and Mercuri, E., additional

Published
2022
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48. P.114 SUNFISH parts 1 and 2: 3-year efficacy and safety of risdiplam in types 2 and 3 spinal muscular atrophy (SMA)

Author

Day, J., primary, Deconinck, N., additional, Mazzone, E., additional, Nascimento, A., additional, Oskoui, M., additional, Saito, K., additional, Vuillerot, C., additional, Baranello, G., additional, Boespflug-Tanguy, O., additional, Goemans, N., additional, Kirschner, J., additional, Kostera-Pruszczyk, A., additional, Servais, L., additional, Braid, J., additional, Gerber, M., additional, Gorni, K., additional, Martin, C., additional, Scalco, R., additional, Yeung, W., additional, and Mercuri, E., additional

Published
2022
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49. P.104 Treatments and outcomes for patients with spinal muscular atrophy (SMA) type 2: Findings from RESTORE registry

Author

Servais, L., primary, Benguerba, K., additional, De Vivo, D., additional, Kirschner, J., additional, Muntoni, F., additional, Proud, C., additional, Tizzano, E., additional, Quijano-Roy, S., additional, Desguerre, I., additional, Saito, K., additional, Raju, D., additional, LaMarca, N., additional, Sun, R., additional, Anderson, F., additional, Faulkner, E., additional, and Finkel, R., additional

Published
2022
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50. P.105 Safety and effectiveness of onasemnogene abeparvovec (OA) alone or with other disease-modifying therapies (DMTs): Findings from RESTORE

Author

Servais, L., primary, Benguerba, K., additional, De Vivo, D., additional, Kirschner, J., additional, Muntoni, F., additional, Proud, C., additional, Tizzano, E., additional, Saito, K., additional, Raju, D., additional, LaMarca, N., additional, Sun, R., additional, Anderson, F., additional, Faulkner, E., additional, and Finkel, R., additional

Published
2022
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