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440 results on '"McDonald, Craig M."'

1. Safety and effectiveness of ataluren in patients with nonsense mutation DMD in the STRIDE Registry compared with the CINRG Duchenne Natural History Study (2015–2022): 2022 interim analysis

Author

Mercuri, Eugenio, Osorio, Andrés Nascimento, Muntoni, Francesco, Buccella, Filippo, Desguerre, Isabelle, Kirschner, Janbernd, Tulinius, Már, de Resende, Maria Bernadete Dutra, Morgenroth, Lauren P., Gordish-Dressman, Heather, Johnson, Shelley, Kristensen, Allan, Werner, Christian, Trifillis, Panayiota, Henricson, Erik K., and McDonald, Craig M.

Published
2023
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2. Safety and efficacy of givinostat in boys with Duchenne muscular dystrophy (EPIDYS): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

Author

Acsadi, Gyula, Baranello, Giovanni, Blaschek, Astrid, Brandsema, John, Brogna, Claudia, Bruno, Claudio, Connolly, Anne, de Groot, Imelda, De Waele, Liesbeth, Finanger, Erika, Finkel, Richard, Gidaro, Teresa, Guglieri, Michaela, Harper, Amy, Lopez Lobato, Mercedes, Madruga Garrido, Marcos, Magri, Francesca, Manousakis, Georgios, Masson, Riccardo, Monduy, Migvis, Muelas Gomez, Nuria, Munell, Francina, Nascimento, Andres, Nevo, Yoram, Pereon, Yann, Phan, Han, Sansone, Valeria, Scoto, Mariacristina, Vucinic, Dragana, Willis, Tracey, Mercuri, Eugenio, Vilchez, Juan J, Boespflug-Tanguy, Odile, Zaidman, Craig M, Mah, Jean K, Goemans, Nathalie, Müller-Felber, Wolfgang, Niks, Erik H, Schara-Schmidt, Ulrike, Bertini, Enrico, Comi, Giacomo P, Mathews, Katherine D, Servais, Laurent, Vandenborne, Krista, Johannsen, Jessika, Messina, Sonia, Spinty, Stefan, McAdam, Laura, Selby, Kathryn, Byrne, Barry, Laverty, Chamindra G, Carroll, Kevin, Zardi, Giulia, Cazzaniga, Sara, Coceani, Nicoletta, Bettica, Paolo, and McDonald, Craig M

Published
2024
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4. Genetic modifiers of upper limb function in Duchenne muscular dystrophy

Author

Sabbatini, Daniele, Fusto, Aurora, Vianello, Sara, Villa, Matteo, Janik, Joanna, D’Angelo, Grazia, Diella, Eleonora, Magri, Francesca, Comi, Giacomo P., Panicucci, Chiara, Bruno, Claudio, D’Amico, Adele, Bertini, Enrico, Astrea, Guja, Battini, Roberta, Politano, Luisa, Masson, Riccardo, Baranello, Giovanni, Previtali, Stefano C., Messina, Sonia, Vita, Gianluca, Berardinelli, Angela, Mongini, Tiziana, Pini, Antonella, Pane, Marika, Mercuri, Eugenio, Hoffman, Eric P., Morgenroth, Lauren, Gordish-Dressman, Heather, Duong, Tina, McDonald, Craig M., Bello, Luca, and Pegoraro, Elena

Published
2022
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5. Quantitative magnetic resonance imaging measures as biomarkers of disease progression in boys with Duchenne muscular dystrophy: a phase 2 trial of domagrozumab

Author

Sherlock, Sarah P., Palmer, Jeffrey, Wagner, Kathryn R., Abdel-Hamid, Hoda Z., Bertini, Enrico, Tian, Cuixia, Mah, Jean K., Kostera-Pruszczyk, Anna, Muntoni, Francesco, Guglieri, Michela, Brandsema, John F., Mercuri, Eugenio, Butterfield, Russell J., McDonald, Craig M., Charnas, Lawrence, and Marraffino, Shannon

Published
2022
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6. Correction to: Safety and effectiveness of ataluren in patients with nonsense mutation DMD in the STRIDE Registry compared with the CINRG Duchenne Natural History Study (2015–2022): 2022 interim analysis

Author

Mercuri, Eugenio, Osorio, Andrés Nascimento, Muntoni, Francesco, Buccella, Filippo, Desguerre, Isabelle, Kirschner, Janbernd, Tulinius, Már, de Resende, Maria Bernadete Dutra, Morgenroth, Lauren P., Gordish-Dressman, Heather, Johnson, Shelley, Kristensen, Allan, Werner, Christian, Trifillis, Panayiota, Henricson, Erik K., and McDonald, Craig M.

Published
2023
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7. Longitudinal changes in cardiac function in Duchenne muscular dystrophy population as measured by magnetic resonance imaging

Author

Batra, Abhinandan, Barnard, Alison M., Lott, Donovan J., Willcocks, Rebecca J., Forbes, Sean C., Chakraborty, Saptarshi, Daniels, Michael J., Arbogast, Jannik, Triplett, William, Henricson, Erik K., Dayan, Jonathan G., Schmalfuss, Carsten, Sweeney, Lee, Byrne, Barry J., McDonald, Craig M., Vandenborne, Krista, and Walter, Glenn A.

Published
2022
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8. Repeated intravenous cardiosphere-derived cell therapy in late-stage Duchenne muscular dystrophy (HOPE-2): a multicentre, randomised, double-blind, placebo-controlled, phase 2 trial

Author

Butterfield, Russell, Connolly, Anne, Muntoni, Francesco, Joyce, Nanette C., Evans, Maya, Abedi, Mehrdad, Surampudi, Prasanth, Jhawar, Sanjay, Dayan, Jonathan G., Anthonisen, Colleen, Goude, Erica, Nicorici, Alina, Sarwary, Omaid, Prasad, Poonam, Baek, Jayoon, Newton, Andrew, Johnson, Hannah, Kusmik, Kyle, Filar, Lauri, Edmondson, Angie, Rybalsky, Irina, Chouteau, Wendy, Giordano, Anthony F., Rodriguez, Aixa, Anderson, Kristan, Wezel, Germaine, Vega, Melisa, Duke, Julie, Collado, Jorge, Civitello, Matthew, Wells, Julie, Pyzik, Erika, Rehborg, Rebecca, Brown, Michelle, Van Eyk, Jennifer, Rogers, Russell G., McDonald, Craig M, Marbán, Eduardo, Hendrix, Suzanne, Hogan, Nathaniel, Ruckdeschel Smith, Rachel, Eagle, Michelle, Finkel, Richard S, Tian, Cuixia, Janas, Joanne, Harmelink, Matthew M, Varadhachary, Arun S, Taylor, Michael D, Hor, Kan N, Mayer, Oscar H, Henricson, Erik K, Furlong, Pat, Ascheim, Deborah D, Rogy, Siegfried, Williams, Paula, and Marbán, Linda

Published
2022
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10. Health related quality of life in young, steroid-naïve boys with Duchenne muscular dystrophy

Author

Straub, Volker, Childs, Anne-Marie, Ciafaloni, Emma, Shieh, Perry B., Spinty, Stefan, Butterfield, Russell J., Horrocks, Iain, Roper, Helen, Maggi, Lorenzo, Baranello, Giovanni, Flanigan, Kevin M., Kuntz, Nancy L., Manzur, Adnan Y., Darras, Basil T., Kang, Peter, Mah, Jean K., Mongini, Tiziana, Ricci, Federica, Morrison, Leslie, Krzesniak-Swinarska, Monika, von der Hagen, Maja, Finkel, Richard S., Kumar, Ashutosh, Wicklund, Matthew, McDonald, Craig M., Henricson, Erik K., Schara-Schmidt, Ulrike, Wilichowski, Ekkehard, Barohn, Richard J., Statland, Jeffrey, Kirschner, Janbernd, Vita, Giuseppe, Vita, Gian Luca, Howard, James F., Jr., Hughes, Imelda, McMillan, Hugh J., Pegoraro, Elena, Bello, Luca, Burnette, W. Bryan, Thangarajh, Mathula, Chang, Taeun, Campbell, Craig, McColl, Elaine, McDermott, Michael P., Martens, William B., Guglieri, Michela, and Griggs, Robert C.

Published
2021
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11. Rasch Analysis of the Pediatric Quality of Life Inventory 4.0 Generic Core Scales Administered to Patients With Duchenne Muscular Dystrophy

Author

Vishwanathan, V., Chidambaranathan, S., Biggar, W. Douglas, McAdam, Laura C., Mah, Jean K., Tulinius, Mar, Cnaan, Avital, Morgenroth, Lauren P., Leshner, Robert, TesiRocha, Carolina, Thangarajh, Mathula, Duong, Tina, Kornberg, Andrew, Ryan, Monique, Nevo, Yoram, Dubrovsky, Alberto, Clemens, Paula R., Abdel-Hamid, Hoda, Connolly, Anne M., Pestronk, Alan, Teasley, Jean, Bertorini, Tulio E., Webster, Richard, Kolski, Hanna, Kuntz, Nancy, Driscoll, Sherilyn, Bodensteiner, John B., Carlo, Jose, Gorni, Ksenija, Lotze, Timothy, Day, John W., Karachunski, Peter, Henricson, Erik K., Abresch, Richard T., Joyce, Nanette C., McDonald, Craig M., Landfeldt, Erik, Iff, Joel, and Henricson, Erik

Published
2021
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12. Long-term effects of glucocorticoids on function, quality of life, and survival in patients with Duchenne muscular dystrophy: a prospective cohort study

Author

Vishwanathan, Vijay, Chidambaranathan, S, Biggar, W. Douglas, McAdam, Laura C., Mah, Jean K., Tulinius, Mar, Cnaan, Avital, Morgenroth, Lauren P., Leshner, Robert, Tesi-Rocha, Carolina, Thangarajh, Mathula, Duong, Tina, Kornberg, Andrew, Ryan, Monique, Nevo, Yoram, Dubrovsky, Alberto, Clemens, Paula R., Abdel-Hamid, Hoda, Connolly, Anne M., Pestronk, Alan, Teasley, Jean, Bertorin, Tulio E., Webster, Richard, Kolski, Hanna, Kuntz, Nancy, Driscoll, Sherilyn, Bodensteiner, John B., Carlo, Jose, Gorni, Ksenija, Lotze, Timothy, Day, John W., Karachunski, Peter, Henricson, Erik K., Abresch, Richard T., Joyce, Nanette C., McDonald, Craig M., McDonald, Craig M, Henricson, Erik K, Abresch, Richard T, Joyce, Nanette C, Hu, Fengming, Clemens, Paula R, Hoffman, Eric P, and Gordish-Dressman, Heather

Published
2018
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13. Survival among patients receiving eteplirsen for up to 8 years for the treatment of Duchenne muscular dystrophy and contextualization with natural history controls.

Author

Iff, Joel, Done, Nicolae, Tuttle, Edward, Zhong, Yi, Wei, Fangzhou, Darras, Basil T., McDonald, Craig M., Mercuri, Eugenio, and Muntoni, Francesco

Abstract

Introduction/Aims: Eteplirsen, approved in the US for patients with Duchenne muscular dystrophy (DMD) with exon 51 skip‐amenable variants, is associated with attenuated ambulatory/pulmonary decline versus DMD natural history (NH). We report overall survival in a US cohort receiving eteplirsen and contextualize these outcomes versus DMD NH. Methods: US patients with DMD receiving eteplirsen were followed through a patient support program, with data collected on ages at eteplirsen initiation and death/end of follow‐up. Individual DMD NH data were extracted by digitizing Kaplan–Meier (KM) curves from published systematic and targeted literature reviews. Overall survival age was analyzed using KM curves and contextualized with DMD NH survival curves; subanalyses considered age groups and duration of eteplirsen exposure. Overall survival time from treatment initiation was also evaluated. Results: A total of 579 eteplirsen‐treated patients were included. During a total follow‐up of 2119 person‐years, median survival age was 32.8 years. DMD NH survival curves extracted from four publications (follow‐up for 1224 DMD NH controls) showed overall pooled median survival age of 27.4 years. Eteplirsen‐treated patients had significantly longer survival from treatment initiation versus age‐matched controls (age‐adjusted hazard ratio [HR], 0.65; 95% confidence interval [CI], 0.44–0.98; p <.05). Longer treatment exposure was associated with improved survival (HR, 0.15; 95% CI, 0.05–0.41; p <.001). Comparisons using different DMD NH cohorts to address common risks of bias yielded consistent findings. Discussion: Data suggest eteplirsen may prolong survival in patients with DMD across a wide age range. As more data become available, the impact of eteplirsen on survival will be further elucidated. [ABSTRACT FROM AUTHOR]

Published
2024
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14. Functional trajectories before and after loss of ambulation in Duchenne muscular dystrophy and implications for clinical trials.

Author

McDonald, Craig M., Signorovitch, James, Mercuri, Eugenio, Niks, Erik H., Wong, Brenda, Fillbrunn, Mirko, Sajeev, Gautam, Yim, Erica, Dieye, Ibrahima, Miller, Debra, Ward, Susan J., and Goemans, Nathalie

Subjects
*DUCHENNE muscular dystrophy, *VITAL capacity (Respiration), *CLINICAL trials, *NATURAL history, *ARM
Abstract

This study examined functional trajectories of subjects during the transition phase between ambulatory and non-ambulatory Duchenne muscular dystrophy (DMD) to inform clinical trial designs for new therapeutics. Ambulatory, pulmonary, and upper limb function leading up to loss of ambulation (LoA) and non-ambulatory measures following LoA were quantified; time ordering of pulmonary and upper limb milestones relative to LoA were determined; and the 10-second time threshold for 10-meter walk/run (10MWR) as a marker of approaching LOA was explored. Included in this analysis were 51 subjects aged between 7 and 18 years who experienced LoA during follow-up in the PRO-DMD-01 natural history study. Mean age at LoA was 12.7 (7.1–18.6) years. Mean annual rates of decline in forced vital capacity (FVC) <80%-predicted and performance of upper limb (PUL) 1.2 total score were smaller before than after LoA, but not significantly (FVC %-predicted: 5.6% vs. 10.1%, p = 0.21; PUL 1.2 total score: 2.3 vs. 3.8 units, p = 0.20). More than half of patients experienced clinically significant deficits in FVC %-predicted and PUL 1.2 before experiencing LoA. Among subjects with baseline 10MWR >10 s, those with <1 year to LoA had similar mean ages but significantly worse mean ambulatory function at baseline compared to those with ≥1 year to LoA. Enriching DMD clinical trials for patients with declining pulmonary or upper limb function is achievable without restricting enrollment to non-ambulatory patients. The sequencing of LoA and initial deficits in pulmonary and upper limb function varied across patients and highlights the potential for composite outcomes or multi-outcome trial designs to assess disease-modifying therapies more comprehensively. [ABSTRACT FROM AUTHOR]

Published
2024
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15. Gait Event Detection and Travel Distance Using Waist-Worn Accelerometers across a Range of Speeds: Automated Approach.

Author

Ramli, Albara Ah, Liu, Xin, Berndt, Kelly, Chuah, Chen-Nee, Goude, Erica, Kaethler, Lynea B., Lopez, Amanda, Nicorici, Alina, Owens, Corey, Rodriguez, David, Wang, Jane, Aranki, Daniel, McDonald, Craig M., and Henricson, Erik K.

Subjects
WALKING speed, RUNNING speed, CENTER of mass, DUCHENNE muscular dystrophy, ACCELEROMETERS
Abstract

Estimation of temporospatial clinical features of gait (CFs), such as step count and length, step duration, step frequency, gait speed, and distance traveled, is an important component of community-based mobility evaluation using wearable accelerometers. However, accurate unsupervised computerized measurement of CFs of individuals with Duchenne muscular dystrophy (DMD) who have progressive loss of ambulatory mobility is difficult due to differences in patterns and magnitudes of acceleration across their range of attainable gait velocities. This paper proposes a novel calibration method. It aims to detect steps, estimate stride lengths, and determine travel distance. The approach involves a combination of clinical observation, machine-learning-based step detection, and regression-based stride length prediction. The method demonstrates high accuracy in children with DMD and typically developing controls (TDs) regardless of the participant's level of ability. Fifteen children with DMD and fifteen TDs underwent supervised clinical testing across a range of gait speeds using 10 m or 25 m run/walk (10 MRW, 25 MRW), 100 m run/walk (100 MRW), 6-min walk (6 MWT), and free-walk (FW) evaluations while wearing a mobile-phone-based accelerometer at the waist near the body's center of mass. Following calibration by a trained clinical evaluator, CFs were extracted from the accelerometer data using a multi-step machine-learning-based process and the results were compared to ground-truth observation data. Model predictions vs. observed values for step counts, distance traveled, and step length showed a strong correlation (Pearson's r = −0.9929 to 0.9986, p < 0.0001). The estimates demonstrated a mean (SD) percentage error of 1.49% (7.04%) for step counts, 1.18% (9.91%) for distance traveled, and 0.37% (7.52%) for step length compared to ground-truth observations for the combined 6 MWT, 100 MRW, and FW tasks. Our study findings indicate that a single waist-worn accelerometer calibrated to an individual's stride characteristics using our methods accurately measures CFs and estimates travel distances across a common range of gait speeds in both DMD and TD peers. [ABSTRACT FROM AUTHOR]

Published
2024
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16. Gait Characterization in Duchenne Muscular Dystrophy (DMD) Using a Single-Sensor Accelerometer: Classical Machine Learning and Deep Learning Approaches.

Author

Ramli, Albara Ah, Liu, Xin, Berndt, Kelly, Goude, Erica, Hou, Jiahui, Kaethler, Lynea B., Liu, Rex, Lopez, Amanda, Nicorici, Alina, Owens, Corey, Rodriguez, David, Wang, Jane, Zhang, Huanle, Aranki, Daniel, McDonald, Craig M., and Henricson, Erik K.

Subjects
DEEP learning, DUCHENNE muscular dystrophy, RUNNING speed, MACHINE learning, GAIT in humans, FISHER discriminant analysis, ACCELEROMETERS
Abstract

Differences in gait patterns of children with Duchenne muscular dystrophy (DMD) and typically developing (TD) peers are visible to the eye, but quantifications of those differences outside of the gait laboratory have been elusive. In this work, we measured vertical, mediolateral, and anteroposterior acceleration using a waist-worn iPhone accelerometer during ambulation across a typical range of velocities. Fifteen TD and fifteen DMD children from 3 to 16 years of age underwent eight walking/running activities, including five 25 m walk/run speed-calibration tests at a slow walk to running speeds (SC-L1 to SC-L5), a 6-min walk test (6MWT), a 100 m fast walk/jog/run (100MRW), and a free walk (FW). For clinical anchoring purposes, participants completed a Northstar Ambulatory Assessment (NSAA). We extracted temporospatial gait clinical features (CFs) and applied multiple machine learning (ML) approaches to differentiate between DMD and TD children using extracted temporospatial gait CFs and raw data. Extracted temporospatial gait CFs showed reduced step length and a greater mediolateral component of total power (TP) consistent with shorter strides and Trendelenberg-like gait commonly observed in DMD. ML approaches using temporospatial gait CFs and raw data varied in effectiveness at differentiating between DMD and TD controls at different speeds, with an accuracy of up to 100%. We demonstrate that by using ML with accelerometer data from a consumer-grade smartphone, we can capture DMD-associated gait characteristics in toddlers to teens. [ABSTRACT FROM AUTHOR]

Published
2024
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17. Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

Author

Alfano, Lindsay N, Eagle, Michelle, James, Meredith K, Lowes, Linda, Mayhew, Anna, Mazzone, Elena S, Nelson, Leslie, Rose, Kristy J, Abdel-Hamid, Hoda Z, Apkon, Susan D, Barohn, Richard J, Bertini, Enrico, Bloetzer, Clemens, de Vaud, Lausanne Canton, Butterfield, Russell J, Chabrol, Brigitte, Chae, Jong-Hee, Jongno-gu, Daehak-ro, Comi, Giacomi Pietro, Darras, Basil T, Dastgir, Jahannaz, Desguerre, Isabelle, Escobar, Raul G, Finanger, Erika, Guglieri, Michela, Hughes, Imelda, Iannaccone, Susan T, Jones, Kristi J, Karachunski, Peter, Kudr, Martin, Lotze, Timothy, Mah, Jean K, Mathews, Katherine, Nevo, Yoram, Parsons, Julie, Péréon, Yann, de Queiroz Campos Araujo, Alexandra Prufer, Renfroe, J Ben, de Resende, Maria Bernadete Dutra, Ryan, Monique, Selby, Kathryn, Tennekoon, Gihan, Vita, Giuseppe, McDonald, Craig M, Campbell, Craig, Torricelli, Ricardo Erazo, Finkel, Richard S, Flanigan, Kevin M, Goemans, Nathalie, Heydemann, Peter, Kaminska, Anna, Kirschner, Janbernd, Muntoni, Francesco, Osorio, Andrés Nascimento, Schara, Ulrike, Sejersen, Thomas, Shieh, Perry B, Sweeney, H Lee, Topaloglu, Haluk, Tulinius, Már, Vilchez, Juan J, Voit, Thomas, Wong, Brenda, Elfring, Gary, Kroger, Hans, Luo, Xiaohui, McIntosh, Joseph, Ong, Tuyen, Riebling, Peter, Souza, Marcio, Spiegel, Robert J, Peltz, Stuart W, and Mercuri, Eugenio

Published
2017
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18. Findings from the Longitudinal CINRG Becker Natural History Study.

Author

Clemens, Paula R., Gordish-Dressman, Heather, Niizawa, Gabriela, Gorni, Ksenija, Guglieri, Michela, Connolly, Anne M., Wicklund, Matthew, Bertorini, Tulio, Mah, Jean, Thangarajh, Mathula, Smith, Edward C., Kuntz, Nancy L., McDonald, Craig M., Henricson, Erik, Upadhyayula, S, Byrne, Barry, Manousakis, Georgios, Harper, Amy, Iannaccone, Susan, and Dang, Utkarsh J.

Published
2024
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19. Assessing the value of delandistrogene moxeparvovec (SRP-9001) gene therapy in patients with Duchenne muscular dystrophy in the United States.

Author

Klimchak, Alexa C., Sedita, Lauren E., Rodino-Klapac, Louise R., Mendell, Jerry R., McDonald, Craig M., Gooch, Katherine L., and Malone, Daniel C.

Subjects
DUCHENNE muscular dystrophy, VALUE (Economics), GENE therapy, ECONOMIC models, NEUROMUSCULAR diseases
Abstract

Background: Delandistrogene moxeparvovec (SRP-9001) is an investigational gene therapy that may delay progression of Duchenne muscular dystrophy (DMD), a severe, rare neuromuscular disease caused by DMD gene mutations. Early cost-effectiveness analyses are important to help contextualize the value of gene therapies for reimbursement decision making. Objective: To determine the potential value of delandistrogene moxeparvovec using a costeffectiveness analysis. Study design: A simulation calculated lifetime costs and equal value of life years gained (evLYG). Inputs included extrapolated clinical trial results and published utilities/costs. As a market price for delandistrogene moxeparvovec has not been established, threshold analyses established maximum treatment costs as they align with value, including varying willingness-to-pay up to $500,000, accounting for severity/rarity. Setting: USA, healthcare system perspective Patients: Boys with DMD Intervention: Delandistrogene moxeparvovec plus standard of care (SoC; corticosteroids) versus SoC alone Main outcome measure: Maximum treatment costs at a given willingness-to-pay threshold Results: Delandistrogene moxeparvovec added 10.30 discounted (26.40 undiscounted) evLYs. The maximum treatment cost was approximately $5 M, assuming $500,000/evLYG. Varying the benefit discount rate to account for the single administration increased the estimated value to >$5M, assuming $500,000/evLYG. Conclusion: In this early economic model, delandistrogene moxeparvovec increases evLYs versus SoC and begins to inform its potential value from a healthcare perspective. [ABSTRACT FROM AUTHOR]

Published
2023
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20. Delandistrogene Moxeparvovec Gene Therapy in Ambulatory Patients (Aged ≥4 to <8 Years) with Duchenne Muscular Dystrophy: 1‐Year Interim Results from Study SRP‐9001‐103 (ENDEAVOR).

Author

Zaidman, Craig M., Proud, Crystal M., McDonald, Craig M., Lehman, Kelly J., Goedeker, Natalie L., Mason, Stefanie, Murphy, Alexander P., Guridi, Maitea, Wang, Shufang, Reid, Carol, Darton, Eddie, Wandel, Christoph, Lewis, Sarah, Malhotra, Jyoti, Griffin, Danielle A., Potter, Rachael A., Rodino‐Klapac, Louise R., and Mendell, Jerry R.

Subjects
DUCHENNE muscular dystrophy, GENE therapy, NATURAL history, INTRAVENOUS therapy
Abstract

Objective: Delandistrogene moxeparvovec is approved in the USA for the treatment of ambulatory patients (4–5 years) with Duchenne muscular dystrophy. ENDEAVOR (SRP‐9001‐103; NCT04626674) is a single‐arm, open‐label study to evaluate delandistrogene moxeparvovec micro‐dystrophin expression, safety, and functional outcomes following administration of commercial process delandistrogene moxeparvovec. Methods: In cohort 1 of ENDEAVOR (N = 20), eligible ambulatory males, aged ≥4 to <8 years, received a single intravenous infusion of delandistrogene moxeparvovec (1.33 × 1014 vg/kg). The primary endpoint was change from baseline (CFBL) to week 12 in delandistrogene moxeparvovec micro‐dystrophin by western blot. Additional endpoints evaluated included: safety; vector genome copies; CFBL to week 12 in muscle fiber‐localized micro‐dystrophin by immunofluorescence; and functional assessments, including North Star Ambulatory Assessment, with comparison with a propensity score‐weighted external natural history control. Results: The 1‐year safety profile of commercial process delandistrogene moxeparvovec in ENDEAVOR was consistent with safety data reported in other delandistrogene moxeparvovec trials (NCT03375164 and NCT03769116). Delandistrogene moxeparvovec micro‐dystrophin expression was robust, with sarcolemmal localization at week 12; mean (SD) CFBL in western blot, 54.2% (42.6); p < 0.0001. At 1 year, patients demonstrated stabilized or improved North Star Ambulatory Assessment total scores; mean (SD) CFBL, +4.0 (3.5). Treatment versus a propensity score‐weighted external natural history control demonstrated a statistically significant difference in least squares mean (standard error) CFBL in North Star Ambulatory Assessment, +3.2 (0.6) points; p < 0.0001. Interpretation: Results confirm efficient transduction of muscle by delandistrogene moxeparvovec. One‐year post‐treatment, delandistrogene moxeparvovec was well tolerated, and demonstrated stabilized or improved motor function, suggesting a clinical benefit for patients with Duchenne muscular dystrophy. ANN NEUROL 2023;94:955–968 [ABSTRACT FROM AUTHOR]

Published
2023
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22. Automated Detection of Gait Events and Travel Distance Using Waist-worn Accelerometers Across a Typical Range of Walking and Running Speeds

Author

Ramli, Albara Ah, Liu, Xin, Berndt, Kelly, Chuah, Chen-Nee, Goude, Erica, Kaethler, Lynea B., Lopez, Amanda, Nicorici, Alina, Owens, Corey, Rodriguez, David, Wang, Jane, Aranki, Daniel, McDonald, Craig M., and Henricson, Erik K.

Subjects
Signal Processing (eess.SP), FOS: Computer and information sciences, Computer Science - Machine Learning, Artificial Intelligence (cs.AI), Computer Science - Artificial Intelligence, FOS: Electrical engineering, electronic engineering, information engineering, Electrical Engineering and Systems Science - Signal Processing, Machine Learning (cs.LG)
Abstract

Background: Estimation of temporospatial clinical features of gait (CFs), such as step count and length, step duration, step frequency, gait speed and distance traveled is an important component of community-based mobility evaluation using wearable accelerometers. However, challenges arising from device complexity and availability, cost and analytical methodology have limited widespread application of such tools. Research Question: Can accelerometer data from commercially-available smartphones be used to extract gait CFs across a broad range of attainable gait velocities in children with Duchenne muscular dystrophy (DMD) and typically developing controls (TDs) using machine learning (ML)-based methods Methods: Fifteen children with DMD and 15 TDs underwent supervised clinical testing across a range of gait speeds using 10 or 25m run/walk (10MRW, 25MRW), 100m run/walk (100MRW), 6-minute walk (6MWT) and free-walk (FW) evaluations while wearing a mobile phone-based accelerometer at the waist near the body's center of mass. Gait CFs were extracted from the accelerometer data using a multi-step machine learning-based process and results were compared to ground-truth observation data. Results: Model predictions vs. observed values for step counts, distance traveled, and step length showed a strong correlation (Pearson's r = -0.9929 to 0.9986, p

Published
2023

23. 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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24. Vamorolone trial in Duchenne muscular dystrophy shows dose-related improvement of muscle function

Author

Hoffman, Eric P., Schwartz, Benjamin D., Mengle-Gaw, Laurel J., Smith, Edward C., Castro, Diana, Mah, Jean K., McDonald, Craig M., Kuntz, Nancy L., Finkel, Richard S., Guglieri, Michela, Bushby, Katharine, Tulinius, Mar, Nevo, Yoram, Ryan, Monique M., Webster, Richard, Smith, Andrea L., Morgenroth, Lauren P., Arrieta, Adrienne, Shimony, Maya, Siener, Catherine, Jaros, Mark, Shale, Phil, McCall, John M., Nagaraju, Kanneboyina, van den Anker, John, Conklin, Laurie S., Cnaan, Avital, Gordish-Dressman, Heather, Damsker, Jesse M., and Clemens, Paula R.

Published
2019
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25. Sleep Disordered Breathing in Children with Neuromuscular Disease.

Author

Chidambaram, Ambika G., Jhawar, Sanjay, McDonald, Craig M., and Nandalike, Kiran

Subjects
SLEEP apnea syndrome treatment, NEUROMUSCULAR diseases, POLYSOMNOGRAPHY, DISEASES, SEVERITY of illness index, SLEEP apnea syndromes, CHILDREN
Abstract

Sleep disordered breathing (SDB) in children with neuromuscular disease (NMD) is more prevalent compared to the general population, and often manifests as sleep-related hypoventilation, sleep-related hypoxemia, obstructive sleep apnea, central sleep apnea, and/or disordered control of breathing. Other sleep problems include, sleep fragmentation, abnormal sleep architecture, and nocturnal seizures in certain neuromuscular diseases. The manifestation of sleep disordered breathing in children depends on the extent, type, and progression of neuromuscular weakness, and in some instances, may be the first sign of a neuromuscular weakness leading to diagnosis of an NMD. In-lab diagnostic polysomnography (PSG) remains the gold standard for the diagnosis of sleep disordered breathing in children, but poses several challenges, including access to many children with neuromuscular disease who are non-ambulatory. If SDB is untreated, it can result in significant morbidity and mortality. Hence, we aimed to perform a comprehensive review of the literature of SDB in children with NMD. This review includes pathophysiological changes during sleep, clinical evaluation, diagnosis, challenges in interpreting PSG data using American Academy of Sleep (AASM) diagnostic criteria, management of SDB, and suggests areas for future research. [ABSTRACT FROM AUTHOR]

Published
2023
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28. Functional and Clinical Outcomes Associated with Steroid Treatment among Non-ambulatory Patients with Duchenne Muscular Dystrophy(1)

Author

McDonald, Craig M, Mayer, Oscar H, Hor, Kan N, Miller, Debra, Goemans, Nathalie, Henricson, Erik K, Marden, Jessica R, Freimark, Jonathan, Lane, Henry, Zhang, Adina, Frean, Molly, Trifillis, Panayiota, Koladicz, Karyn, and Signorovitch, James

Subjects
Duchenne muscular dystrophy, PREDNISONE, BOYS, Science & Technology, ambulation, Clinical Neurology, Neurosciences, DEFLAZACORT, BENEFITS, MANAGEMENT, SURVIVAL, TRIAL, Neurosciences & Neurology, GLUCOCORTICOIDS, Treatment outcome, Life Sciences & Biomedicine
Abstract

BACKGROUND: Evidence on the long-term efficacy of steroids in Duchenne muscular dystrophy (DMD) after loss of ambulation is limited. OBJECTIVE: Characterize and compare disease progression by steroid treatment (prednisone, deflazacort, or no steroids) among non-ambulatory boys with DMD. METHODS: Disease progression was measured by functional status (Performance of Upper Limb Module for DMD 1.2 [PUL] and Egen Klassifikation Scale Version 2 [EK] scale) and by cardiac and pulmonary function (left ventricular ejection fraction [LVEF], forced vital capacity [FVC] % -predicted, cough peak flow [CPF]). Longitudinal changes in outcomes, progression to key disease milestones, and dosing and body composition metrics were analyzed descriptively and in multivariate models. RESULTS: This longitudinal cohort study included 86 non-ambulatory patients with DMD (mean age 13.4 years; n = 40 [deflazacort], n = 29 [prednisone], n = 17 [no steroids]). Deflazacort use resulted in slower average declines in FVC % -predicted vs. no steroids (+3.73 percentage points/year, p

Published
2023

33. A checklist for clinical trials in rare disease: obstacles and anticipatory actions—lessons learned from the FOR-DMD trial

Author

Crow, Rebecca A., Hart, Kimberly A., McDermott, Michael P., Tawil, Rabi, Martens, William B., Herr, Barbara E., McColl, Elaine, Wilkinson, Jennifer, Kirschner, Janbernd, King, Wendy M., Eagle, Michele, Brown, Mary W., Hirtz, Deborah, Lochmuller, Hanns, Straub, Volker, Ciafaloni, Emma, Shieh, Perry B., Spinty, Stefan, Childs, Anne-Marie, Manzur, Adnan Y., Morandi, Lucia, Butterfield, Russell J., Horrocks, Iain, Roper, Helen, Flanigan, Kevin M., Kuntz, Nancy L., Mah, Jean K., Morrison, Leslie, Darras, Basil T., von der Hagen, Maja, Schara, Ulrike, Wilichowski, Ekkehard, Mongini, Tiziana, McDonald, Craig M., Vita, Giuseppe, Barohn, Richard J., Finkel, Richard S., Wicklund, Matthew, McMillan, Jr, Hugh J., Hughes, Imelda, Pegoraro, Elena, Bryan Burnette, W., Howard, James F., Thangarajh, Mathula, Campbell, Craig, Griggs, Robert C., Bushby, Kate, and Guglieri, Michela

Published
2018
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34. Motor and cognitive assessment of infants and young boys with Duchenne Muscular Dystrophy: results from the Muscular Dystrophy Association DMD Clinical Research Network

Author

Connolly, Anne M., Florence, Julaine M., Cradock, Mary M., Malkus, Elizabeth C., Schierbecker, Jeanine R., Siener, Catherine A., Wulf, Charlie O., Anand, Pallavi, Golumbek, Paul T., Zaidman, Craig M., Philip Miller, J., Lowes, Linda P., Alfano, Lindsay N., Viollet-Callendret, Laurence, Flanigan, Kevin M., Mendell, Jerry R., McDonald, Craig M., Goude, Erica, Johnson, Linda, Nicorici, Alina, Karachunski, Peter I., Day, John W., Dalton, Joline C., Farber, Janey M., Buser, Karen K., Darras, Basil T., Kang, Peter B., Riley, Susan O., Shriber, Elizabeth, Parad, Rebecca, Bushby, Kate, and Eagle, Michelle

Published
2013
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44. Efficacy and Safety of Vamorolone in Duchenne Muscular Dystrophy

Author

Mah, Jean K., Clemens, Paula R., Guglieri, Michela, Smith, Edward C., Finkel, Richard S., Tulinius, Mar, Nevo, Yoram, Ryan, Monique M., Webster, Richard, Castro, Diana, Kuntz, Nancy L., McDonald, Craig M., Damsker, Jesse M., Schwartz, Benjamin D., Mengle-Gaw, Laurel J., Jackowski, Stefan, Stimpson, Georgia, Ridout, Deborah A., Ayyar-Gupta, Vandana, Baranello, Giovanni, Manzur, Adnan Y., Muntoni, Francesco, Gordish-Dressman, Heather, Leinonen, Mika, Ward, Leanne M., Hoffman, Eric P., and Dang, Utkarsh J.

Subjects
Male, Research, Anti-Inflammatory Agents, Body Height, United Kingdom, Muscular Dystrophy, Duchenne, Online Only, Treatment Outcome, Neurology, Child, Preschool, Humans, Muscle Strength, Child, Glucocorticoids, Pregnadienediols, Original Investigation
Abstract

This nonrandomized controlled trial examines efficacy of vamorolone treatment for Duchenne muscular dystrophy among boys compared with glucocorticoid treatment., Key Points Question Is long-term treatment with vamorolone associated with sustained disease modification and decrease of glucocorticoid-associated adverse outcomes among patients with Duchenne muscular dystrophy (DMD)? Findings In this nonrandomized controlled trial of 46 boys with DMD, higher-dose vamorolone treatment for up to 30 months was not associated with a change in time to stand velocity. Vamorolone was associated with continued disease-modification and similar efficacy compared with glucocorticoid treatment from 2 historical control cohorts, and long-term vamorolone treatment was associated with decreased adverse outcomes compared with traditional glucocorticoid therapy. Meaning These findings suggest that vamorolone may have potential as a standard of care disease-modifying treatment for boys with DMD., Importance Vamorolone is a synthetic steroidal drug with potent anti-inflammatory properties. Initial open-label, multiple ascending dose-finding studies of vamorolone among boys with Duchenne muscular dystrophy (DMD) found significant motor function improvement after 6 months treatment in higher-dose (ie, ≥2.0 mg/kg/d) groups. Objective To investigate outcomes after 30 months of open-label vamorolone treatment. Design, Setting, and Participants This nonrandomized controlled trial was conducted by the Cooperative International Neuromuscular Research Group at 11 US and non-US study sites. Participants were 46 boys ages 4.5 to 7.5 years with DMD who completed the 6-month dose-finding study. Data were analyzed from July 2020 through November 2021. Interventions Participants were enrolled in a 24-month, long-term extension (LTE) study with vamorolone dose escalated to 2.0 or 6.0 mg/kg/d. Main Outcomes and Measures Change in time-to-stand (TTSTAND) velocity from dose-finding baseline to end of LTE study was the primary outcome. Efficacy assessments included timed function tests, 6-minute walk test, and NorthStar Ambulatory Assessment (NSAA). Participants with DMD treated with glucocorticoids from the Duchenne Natural History Study (DNHS) and NorthStar United Kingdom (NSUK) Network were matched and compared with participants in the LTE study receiving higher doses of vamorolone. Results Among 46 boys with DMD who completed the dose-finding study, 41 boys (mean [SD] age, 5.33 [0.96] years) completed the LTE study. Among 21 participants treated with higher-dose (ie, ≥2.0 mg/kg/d) vamorolone consistently throughout the 6-month dose-finding and 24-month LTE studies with data available at 30 months, there was a decrease in mean (SD) TTSTAND velocity from baseline to 30 months (0.206 [0.070] rises/s vs 0.189 (0.124) rises/s), which was not a statistically significant change (−0.011 rises/s; CI, −0.068 to 0.046 rises/s). There were no statistically significant differences between participants receiving higher-dose vamorolone and matched participants in the historical control groups receiving glucocorticoid treatment (75 patients in DNHS and 110 patients in NSUK) over a 2-year period in NSAA total score change (0.22 units vs NSUK; 95% CI, −4.48 to 4.04]; P = .92), body mass index z score change (0.002 vs DNHS SD/mo; 95% CI, −0.006 to 0.010; P = .58), or timed function test change. Vamorolone at doses up to 6.0 mg/kg/d was well tolerated, with 5 of 46 participants discontinuing prematurely and for reasons not associated with study drug. Participants in the DNHS treated with glucocorticoids had significant growth delay in comparison with participants treated with vamorolone who had stable height percentiles (0.37 percentile/mo; 95% CI, 0.23 to 0.52 percentile/mo) over time. Conclusions and Relevance This study found that vamorolone treatment was not associated with a change in TTSTAND velocity from baseline to 30 months among boys with DMD aged 4 to 7 years at enrollment. Vamorolone was associated with maintenance of muscle strength and function up to 30 months, similar to standard of care glucocorticoid therapy, and improved height velocity compared with growth deceleration associated with glucocorticoid treatment, suggesting that vamorolone may be an attractive candidate for treatment of DMD. Trial Registration ClinicalTrials.gov Identifier: NCT03038399

Published
2022

49. OUTCOME RELIABILITY IN NON-AMBULATORY BOYS/MEN WITH DUCHENNE MUSCULAR DYSTROPHY

Author

CONNOLLY, ANNE M., MALKUS, ELIZABETH C., MENDELL, JERRY R., FLANIGAN, KEVIN M., MILLER, PHILIP J., SCHIERBECKER, JEANINE R., SIENER, CATHERINE A., GOLUMBEK, PAUL T., ZAIDMAN, CRAIG M., MCDONALD, CRAIG M., JOHNSON, LINDA, NICORICI, ALINA, KARACHUNSKI, PETER I., DAY, JOHN W., KELECIC, JASON M., LOWES, LINDA P., ALFANO, LINDSAY N., DARRAS, BASIL T., KANG, PETER B., QUIGLEY, JANET, PASTERNAK, AMY E., and FLORENCE, JULAINE M.

Published
2015
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