• 8589 Citations
  • 48 h-Index
1986 …2020

Research output per year

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Research Output

2020

Assessment of Treatment Effect With Multiple Outcomes in 2 Clinical Trials of Patients With Duchenne Muscular Dystrophy

Li, D., McDonald, C. M., Elfring, G. L., Souza, M., McIntosh, J., Kim, D. H. & Wei, L. J., Feb 5 2020, In : JAMA Network Open. 3, 2, p. e1921306

Research output: Contribution to journalArticle

Open Access

Conference report on contractures in musculoskeletal and neurological conditions

Nuckolls, G. H., Kinnett, K., Dayanidhi, S., Domenighetti, A. A., Duong, T., Hathout, Y., Lawlor, M. W., Lee, S. S. M., Magnusson, S. P., McDonald, C. M., McNally, E. M., Miller, N. F., Olwin, B. B., Raghavan, P., Roberts, T. J., Rutkove, S. B., Sarwark, J. F., Senesac, C. R., Vogel, L. F., Walter, G. A. & 3 others, Willcocks, R. J., Rymer, W. Z. & Lieber, R. L., Jan 1 2020, (Accepted/In press) In : Muscle and Nerve.

Research output: Contribution to journalArticle

Genetic modifiers of respiratory function in Duchenne muscular dystrophy

CINRG-DNHS Investigators, May 1 2020, In : Annals of Clinical and Translational Neurology. 7, 5, p. 786-798 13 p.

Research output: Contribution to journalArticle

Open Access

Randomized phase 2 trial and open-label extension of domagrozumab in Duchenne muscular dystrophy

Wagner, K. R., Abdel-Hamid, H. Z., Mah, J. K., Campbell, C., Guglieri, M., Muntoni, F., Takeshima, Y., McDonald, C. M., Kostera-Pruszczyk, A., Karachunski, P., Butterfield, R. J., Mercuri, E., Fiorillo, C., Bertini, E. S., Tian, C., Statland, J., Sadosky, A. B., Purohit, V. S., Sherlock, S. P., Palmer, J. P. & 4 others, Binks, M., Charnas, L., Marraffino, S. & Wong, B. L., Jan 1 2020, (Accepted/In press) In : Neuromuscular Disorders.

Research output: Contribution to journalArticle

Safety, Tolerability, and Efficacy of Viltolarsen in Boys with Duchenne Muscular Dystrophy Amenable to Exon 53 Skipping: A Phase 2 Randomized Clinical Trial

Clemens, P. R., Rao, V. K., Connolly, A. M., Harper, A. D., Mah, J. K., Smith, E. C., McDonald, C. M., Zaidman, C. M., Morgenroth, L. P., Osaki, H., Satou, Y., Yamashita, T. & Hoffman, E. P., Jan 1 2020, (Accepted/In press) In : JAMA neurology.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations

Safety and effectiveness of ataluren: Comparison of results from the STRIDE Registry and CINRG DMD Natural History Study

Mercuri, E., Muntoni, F., Osorio, A. N., Tulinius, M., Buccella, F., Morgenroth, L. P., Gordish-Dressman, H., Jiang, J., Trifillis, P., Zhu, J., Kristensen, A., Santos, C. L., Henricson, E. K., McDonald, C. M. & Desguerre, I., Apr 2020, In : Journal of Comparative Effectiveness Research. 9, 5, p. 341-360 20 p.

Research output: Contribution to journalArticle

Open Access
2 Scopus citations

TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy

CINRG Investigators, Jan 1 2020, (Accepted/In press) In : European Journal of Human Genetics.

Research output: Contribution to journalArticle

Open Access

The care of patients with Duchenne, Becker, and other muscular dystrophies in the COVID-19 pandemic

Veerapandiyan, A., Wagner, K. R., Apkon, S., McDonald, C. M., Mathews, K. D., Parsons, J. A., Wong, B. L., Eichinger, K., Shieh, P. B., Butterfield, R. J., Rao, V. K., Smith, E. C., Proud, C. M., Connolly, A. M. & Ciafaloni, E., Jan 1 2020, (Accepted/In press) In : Muscle and Nerve.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations
2019

Deflazacort vs prednisone treatment for Duchenne muscular dystrophy: a meta-analysis of disease progression rates in recent multicenter clinical trials

for the ACT DMD Study Group and the Tadalafil DMD Study Group, Jan 1 2019, (Accepted/In press) In : Muscle and Nerve.

Research output: Contribution to journalArticle

Open Access
2 Scopus citations

Disease-specific and glucocorticoid-responsive serum biomarkers for Duchenne Muscular Dystrophy

Hathout, Y., Liang, C., Ogundele, M., Xu, G., Tawalbeh, S. M., Dang, U. J., Hoffman, E. P., Gordish-Dressman, H., Conklin, L. S., van den Anker, J. N., Clemens, P. R., Mah, J. K., Henricson, E. K. & McDonald, C. M., Dec 1 2019, In : Scientific reports. 9, 1, 12167.

Research output: Contribution to journalArticle

Open Access
4 Scopus citations

Eteplirsen treatment attenuates respiratory decline in ambulatory and non-ambulatory patients with duchenne muscular dystrophy

Khan, N., Eliopoulos, H., Han, L., Kinane, T. B., Lowes, L. P., Mendell, J. R., Gordish-Dressman, H., Henricson, E. K. & McDonald, C. M., Jan 1 2019, In : Journal of Neuromuscular Diseases. 6, 2, p. 213-225 13 p.

Research output: Contribution to journalArticle

Open Access
14 Scopus citations

Influence of β2 adrenergic receptor genotype on risk of nocturnal ventilation in patients with Duchenne muscular dystrophy

Kelley, E. F., Cross, T. J., Snyder, E. M., McDonald, C. M., Hoffman, E. P. & Bello, L., Oct 16 2019, In : Respiratory Research. 20, 1, 221.

Research output: Contribution to journalArticle

Open Access

Longitudinal study of upper extremity reachable workspace in fascioscapulohumeral muscular dystrophy

Hatch, M. N., Kim, K., Kurillo, G., Nicorici, A., McDonald, C. M. & Han, J. J., Jul 1 2019, In : Neuromuscular Disorders. 29, 7, p. 503-513 11 p.

Research output: Contribution to journalArticle

Long-term data with idebenone on respiratory function outcomes in patients with Duchenne muscular dystrophy

for the SYROS and CINRG DNHS Investigators, Jan 1 2019, (Accepted/In press) In : Neuromuscular Disorders.

Research output: Contribution to journalArticle

Open Access

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

the Duchenne Muscular Dystrophy Regulatory Science Consortium (D-RSC), Jan 1 2019, In : Journal of Pharmacokinetics and Pharmacodynamics.

Research output: Contribution to journalArticle

2 Scopus citations

Twice-weekly glucocorticosteroids in infants and young boys with Duchenne muscular dystrophy

for the MDA DMD Clinical Research Network, Jan 1 2019, In : Muscle and Nerve.

Research output: Contribution to journalArticle

7 Scopus citations

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

Cooperative International Neuromuscular Research Group, Sep 24 2019, In : Neurology. 93, 13, p. e1312-e1323

Research output: Contribution to journalArticle

Open Access
3 Scopus citations
2018

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

Crow, R. A., Hart, K. A., McDermott, M. P., Tawil, R., Martens, W. B., Herr, B. E., McColl, E., Wilkinson, J., Kirschner, J., King, W. M., Eagle, M., Brown, M. W., Hirtz, D., Lochmuller, H., Straub, V., Ciafaloni, E., Shieh, P. B., Spinty, S., Childs, A. M., Manzur, A. Y. & 28 others, Morandi, L., Butterfield, R. J., Horrocks, I., Roper, H., Flanigan, K. M., Kuntz, N. L., Mah, J. K., Morrison, L., Darras, B. T., von der Hagen, M., Schara, U., Wilichowski, E., Mongini, T., McDonald, C. M., Vita, G., Barohn, R. J., Finkel, R. S., Wicklund, M., McMillan, H. J., Hughes, I., Pegoraro, E., Bryan Burnette, W., Howard, J. F., Thangarajh, M., Campbell, C., Griggs, R. C., Bushby, K. & Guglieri, M., May 10 2018, In : Trials. 19, 1, 291.

Research output: Contribution to journalReview article

5 Scopus citations

A multinational study on motor function in early-onset FSHD

Mah, J. K., Feng, J., Jacobs, M. B., Duong, T., Carroll, K., De Valle, K., Carty, C. L., Morgenroth, L. P., Guglieri, M., Ryan, M. M., Clemens, P. R., Thangarajh, M., Webster, R., Smith, E., Connolly, A. M., McDonald, C. M., Karachunski, P., Tulinius, M., Harper, A., Cnaan, A. & 1 others, Chen, Y. W., Apr 10 2018, In : Neurology. 90, 15, p. e1333-e1338

Research output: Contribution to journalArticle

5 Scopus citations

A presynaptic congenital myasthenic syndrome attributed to a homozygous sequence variant in LAMA5

Maselli, R. A., Arredondo, J., Vázquez, J., Chong, J. X., Bamshad, M. J., Nickerson, D. A., Lara, M., Ng, F., Lo, V. L., Pytel, P. & McDonald, C. M., Jan 1 2018, (Accepted/In press) In : Annals of the New York Academy of Sciences.

Research output: Contribution to journalArticle

3 Scopus citations

Deflazacort versus prednisone/prednisolone for maintaining motor function and delaying loss of ambulation: A post HOC analysis from the ACT DMD trial

AND THE ACT DMD STUDY GROUP, Jan 1 2018, (Accepted/In press) In : Muscle and Nerve.

Research output: Contribution to journalArticle

16 Scopus citations

Evidence-based care in Duchenne muscular dystrophy

McDonald, C. M. & Mercuri, E., May 1 2018, In : The Lancet Neurology. 17, 5, p. 389-391 3 p.

Research output: Contribution to journalComment/debate

5 Scopus citations

Home-based monitoring of pulmonary function in patients with duchenne muscular dystroph

Buyse, G. M., Rummey, C., Meier, T., Leinonen, M., Voit, T., McDonald, C. M. & Mayer, O. H., Jan 1 2018, In : Journal of Neuromuscular Diseases. 5, 4, p. 419-430 12 p.

Research output: Contribution to journalArticle

3 Scopus citations

Longitudinal pulmonary function testing outcome measures in Duchenne muscular dystrophy: Long-term natural history with and without glucocorticoids

CINRG investigators for PubMed, Jan 1 2018, (Accepted/In press) In : Neuromuscular Disorders.

Research output: Contribution to journalArticle

17 Scopus citations

Mexiletine for muscle cramps in amyotrophic lateral sclerosis: A randomized, double-blind crossover trial

Oskarsson, B. E., Moore, D., Mozaffar, T., Ravits, J., Wiedau-Pazos, M., Parziale, N., Joyce, N., Mandeville, R., Goyal, N., Cudkowicz, M. E., Weiss, M., Miller, R. G. & McDonald, C. M., Jan 1 2018, (Accepted/In press) In : Muscle and Nerve.

Research output: Contribution to journalArticle

10 Scopus citations

Phase IIa trial in Duchenne muscular dystrophy shows vamorolone is a first-in-class dissociative steroidal anti-inflammatory drug

Conklin, L. S., Damsker, J. M., Hoffman, E. P., Jusko, W. J., Mavroudis, P. D., Schwartz, B. D., Mengle-Gaw, L. J., Smith, E. C., Mah, J. K., Guglieri, M., Nevo, Y., Kuntz, N., McDonald, C. M., Tulinius, M., Ryan, M. M., Webster, R., Castro, D., Finkel, R. S., Smith, A. L., Morgenroth, L. P. & 12 others, Arrieta, A., Shimony, M., Jaros, M., Shale, P., McCall, J. M., Hathout, Y., Nagaraju, K., van den Anker, J., Ward, L. M., Ahmet, A., Cornish, M. R. & Clemens, P. R., Oct 1 2018, In : Pharmacological Research. 136, p. 140-150 11 p.

Research output: Contribution to journalArticle

14 Scopus citations

Placebo-controlled Phase 2 Trial of Drisapersen for Duchenne Muscular Dystrophy

McDonald, C. M., Wong, B., Flanigan, K. M., Wilson, R., de Kimpe, S., Lourbakos, A., Lin, Z. & Henricson, E. K., Jan 1 2018, (Accepted/In press) In : Annals of Clinical and Translational Neurology.

Research output: Contribution to journalArticle

6 Scopus citations

Recruitment & retention program for the NeuroNEXT SMA Biomarker Study: Super Babies for SMA!

The NeuroNEXT Clinical Trial Network and on behalf of the NN101 SMA Biomarker Investigators, Sep 1 2018, In : Contemporary Clinical Trials Communications. 11, p. 113-119 7 p.

Research output: Contribution to journalArticle

2 Scopus citations
2017

Advances in pulmonary care in duchenne muscular dystrophy

Mayer, O. H., Henricson, E. K., McDonald, C. M. & Buyse, G. M., 2017, In : European Neurological Review. 13, 1, p. 35-41 7 p.

Research output: Contribution to journalReview article

7 Scopus citations

A phase 3 randomized placebo-controlled trial of tadalafil for Duchenne muscular dystrophy

Victor, R. G., Sweeney, H. L., Finkel, R., McDonald, C. M., Byrne, B., Eagle, M., Goemans, N., Vandenborne, K., Dubrovsky, A. L., Topaloglu, H., Miceli, M. C., Furlong, P., Landry, J., Elashoff, R. & Cox, D., Oct 24 2017, In : Neurology. 89, 17, p. 1811-1820 10 p.

Research output: Contribution to journalArticle

22 Scopus citations

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

Goemans, N., Mercuri, E., Belousova, E., Komaki, H., Dubrovsky, A., McDonald, C. M., Kraus, J. E., Lourbakos, A., Lin, Z., Campion, G., Wang, S. X. & Campbell, C., Jan 1 2017, (Accepted/In press) In : Neuromuscular Disorders.

Research output: Contribution to journalArticle

33 Scopus citations

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

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. & 10 others, Elfring, G., Kroger, H., Luo, X., McIntosh, J., Ong, T., Riebling, P., Souza, M., Spiegel, R. J., Peltz, S. W. & Mercuri, E., 2017, (Accepted/In press) In : The Lancet.

Research output: Contribution to journalArticle

118 Scopus citations

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

the DELOS Study Group, Apr 1 2017, In : Neuromuscular Disorders. 27, 4, p. 307-314 8 p.

Research output: Contribution to journalArticle

18 Scopus citations

Developing standardized corticosteroid treatment for Duchenne muscular dystrophy

Guglieri, M., Bushby, K., McDermott, M. P., Hart, K. A., Tawil, R., Martens, W. B., Herr, B. E., McColl, E., Wilkinson, J., Kirschner, J., King, W. M., Eagle, M., Brown, M. W., Willis, T., Hirtz, D., Shieh, P. B., Straub, V., Childs, A. M., Ciafaloni, E., Butterfield, R. J. & 27 others, Horrocks, I., Spinty, S., Flanigan, K. M., Kuntz, N. L., Baranello, G., Roper, H., Morrison, L., Mah, J. K., Manzur, A. Y., McDonald, C. M., Schara, U., von der Hagen, M., Barohn, R. J., Campbell, C., Darras, B. T., Finkel, R. S., Vita, G., Hughes, I., Mongini, T., Pegoraro, E., Wicklund, M., Wilichowski, E., Bryan Burnette, W., Howard, J. F., McMillan, H. J., Thangarajh, M. & Griggs, R. C., Jul 1 2017, In : Contemporary Clinical Trials. 58, p. 34-39 6 p.

Research output: Contribution to journalArticle

26 Scopus citations

Development of a patient-reported outcome measure for upper limb function in Duchenne muscular dystrophy: DMD Upper Limb PROM

The Upper Limb Clinical Outcome Group, Feb 1 2017, In : Developmental Medicine and Child Neurology. 59, 2, p. 224-231 8 p.

Research output: Contribution to journalArticle

17 Scopus citations

Facilitating orphan drug development: Proceedings of the TREAT-NMD International Conference, December 2015, Washington, DC, USA

Bonnemann, C., Boutin, M., Brais, B., Buccella, F., Burghes, A., Coffey, C., Dasgupta, N., Dawkins, H., De Luca, A., Dowd, C., Duong, T., Eagle, M., Finkel, R., Furlong, P., Gagnon, C., Goemans, N., Guglieri, M., Hathout, Y., Johnson, N., Kakkis, E. & 25 others, Kaufmann, P., Kimmelman, J., Korngut, L., Kullman, J., Lochmüller, H., Marini, S., McDonald, C., Mohan, C., Morgenroth, L., Morizono, H., Nagaraju, K., Porter, J., Reilly, L., Rüegg, M., Schneider, J., Spitali, P., Straub, V., Sweeney, L., Tasca, G., Turner, C., Veldhuizen, O., Verschuuren, J., Ward, S., Willmann, R. & Ward, S., Jul 1 2017, In : Neuromuscular Disorders. 27, 7, p. 693-701 9 p.

Research output: Contribution to journalArticle

1 Scopus citations

In memoriam: William M. Fowler Jr, MD

Mcdonald, C. M. & Carter, G. T., 2017, (Accepted/In press) In : Muscle and Nerve.

Research output: Contribution to journalArticle

Interleukin 1 Receptor-Like 1 Protein (ST2) is a Potential Biomarker for Cardiomyopathy in Duchenne Muscular Dystrophy

On Behalf Of The Cinrg Investigators, Aug 18 2017, (Accepted/In press) In : Pediatric Cardiology. p. 1-7 7 p.

Research output: Contribution to journalArticle

3 Scopus citations

Longitudinal community walking activity in Duchenne muscular dystrophy

Fowler, E. G., Staudt, L. A., Heberer, K. R., Sienko, S. E., Buckon, C. E., Bagley, A. M., Sussman, M. D. & McDonald, C. M., 2017, (Accepted/In press) In : Muscle and Nerve.

Research output: Contribution to journalArticle

6 Scopus citations

Long-term effects of glucocorticoids on function, quality of life, and survival in patients with Duchenne muscular dystrophy: A prospective cohort study

McDonald, C. M., Henricson, E. K., Abresch, R. T., Duong, T., Joyce, N., Hu, F., Clemens, P. R., Hoffman, E. P., Cnaan, A. & Gordish-Dressman, H., Jan 1 2017, (Accepted/In press) In : The Lancet.

Research output: Contribution to journalArticle

73 Scopus citations

Natural history of infantile-onset spinal muscular atrophy

the NeuroNEXT Clinical Trial Network on behalf of the NN101 SMA Biomarker Investigators, Dec 1 2017, In : Annals of Neurology. 82, 6, p. 883-891 9 p.

Research output: Contribution to journalArticle

65 Scopus citations

Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission

University of Washington Center for Mendelian Genomics, Aug 1 2017, In : American Journal of Medical Genetics, Part A. 173, 8, p. 2240-2245 6 p.

Research output: Contribution to journalArticle

14 Scopus citations

Pulmonary Endpoints in Duchenne Muscular Dystrophy. A Workshop Summary

Finder, J., Mayer, O. H., Sheehan, D., Sawnani, H., Abresch, R. T., Benditt, J., Birnkrant, D. J., Duong, T., Henricson, E. K., Kinnett, K., McDonald, C. M. & Connolly, A. M., Aug 15 2017, In : American Journal of Respiratory and Critical Care Medicine. 196, 4, p. 512-519 8 p.

Research output: Contribution to journalReview article

23 Scopus citations
6 Scopus citations

William M. Fowler, Jr, MD, 1926-2017

Carter, G. T. & McDonald, C. M., 2017, (Accepted/In press) In : PM and R.

Research output: Contribution to journalArticle

2016

Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy

Bello, L., Punetha, J., Gordish-Dressman, H., Giri, M., Hoffman, E. P., Bello, L., Barp, A., Vianello, S., Pegoraro, E., Flanigan, K. M., Flanigan, K. M., Flanigan, K. M., Weiss, R. B., Spitali, P., Aartsma-Rus, A., Aartsma-Rus, A., Straub, V., Lochmüller, H., Muntoni, F., Zaharieva, I. & 75 others, Ferlini, A., Mercuri, E., Tuffery-Giraud, S., Claustres, M., McDonald, C. M., Dunn, D. M., Swoboda, K. J., Gappmaier, E., Howard, M. T., Sampson, J. B., Bromberg, M. B., Butterfield, R., Kerr, L., Pestronk, A., Florence, J. M., Connolly, A., Lopate, G., Golumbek, P., Schierbecker, J., Malkus, B., Renna, R., Siener, C., Finkel, R. S., Bonnemann, C. G., Medne, L., Glanzman, A. M., Flickinger, J., Mendell, J. R., King, W. M., Lowes, L., Alfano, L., Mathews, K. D., Stephan, C., Laubenthal, K., Baldwin, K., Wong, B., Morehart, P., Meyer, A., Day, J. W., Naughton, C. E., Margolis, M., Cnaan, A., Abresch, R. T., Henricson, E. K., Morgenroth, L. P., Duong, T., Chidambaranathan, V. V., Biggar, W. D., McAdam, L. C., Mah, J., Tulinius, M., Leshner, R., Rocha, C. T., 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., North, K., Webster, R., Kolski, H., Kuntz, N., Driscoll, S., Carlo, J., Gorni, K., Lotze, T., Day, J. W., Karachunski, P. & Bodensteiner, J. B., Nov 3 2016, In : American Journal of Human Genetics. 99, 5, p. 1163-1171 9 p.

Research output: Contribution to journalArticle

20 Scopus citations

Baseline results of the NeuroNEXT spinal muscular atrophy infant biomarker study

The NeuroNEXT Clinical Trial Network and on behalf of the NN101 SMA Biomarker Investigators, Feb 1 2016, In : Annals of Clinical and Translational Neurology. 3, 2, p. 132-145 14 p.

Research output: Contribution to journalArticle

52 Scopus citations

Can quantitative muscle strength and functional motor ability differentiate the influence of age and corticosteroids in ambulatory boys with duchenne muscular dystrophy?

Buckon, C., Sienko, S., Bagley, A., Sison-Williamson, M., Fowler, E., Staudt, L., Heberer, K., McDonald, C. M. & Sussman, M., 2016, In : PLoS Currents. 8, MuscularDystrophy

Research output: Contribution to journalArticle

8 Scopus citations

Clinical trial readiness in non-ambulatory boys and men with duchenne muscular dystrophy: MDA–DMD network follow-up

the MDA–DMD Clinical Research Network, Oct 1 2016, In : Muscle and Nerve. 54, 4, p. 681-689 9 p.

Research output: Contribution to journalArticle

14 Scopus citations