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DMD therapy

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https://www.readbyqxmd.com/read/28195574/muscle-specific-crispr-cas9-dystrophin-gene-editing-ameliorates-pathophysiology-in-a-mouse-model-for-duchenne-muscular-dystrophy
#1
Niclas E Bengtsson, John K Hall, Guy L Odom, Michael P Phelps, Colin R Andrus, R David Hawkins, Stephen D Hauschka, Joel R Chamberlain, Jeffrey S Chamberlain
Gene replacement therapies utilizing adeno-associated viral (AAV) vectors hold great promise for treating Duchenne muscular dystrophy (DMD). A related approach uses AAV vectors to edit specific regions of the DMD gene using CRISPR/Cas9. Here we develop multiple approaches for editing the mutation in dystrophic mdx(4cv) mice using single and dual AAV vector delivery of a muscle-specific Cas9 cassette together with single-guide RNA cassettes and, in one approach, a dystrophin homology region to fully correct the mutation...
February 14, 2017: Nature Communications
https://www.readbyqxmd.com/read/28116794/genetic-profile-of-brazilian-patients-with-dystrophinopathies
#2
Paula Abreu Ducceschi de Almeida, Marcela Câmara Machado-Costa, Gabrielle Novais Manzoli, Leticia Sauma Ferreira, Maria do Carmo de Souza Rodrigues, Larissa Souza Mario Bueno, Jonas Alex Morales Saute, Filippo Pinto Vairo, Ursula da Silveira Matte, Marina Siebert, Silvia Liliana Cossio, Gabriel S Macedo, Pablo Brea Winckler, Michele Michelin Becker, Lucas Vilas Boas Magalhães, Marcus Vinicius Magno Gonçalves, Carlo Domenico Marrone, Anamarli Nucci, Marcondes C França
Different types of mutations in the DMD gene underlie Duchenne (DMD) and Becker (BMD) muscular dystrophies. Large deletions and duplications are the most frequent causative genetic alterations worldwide, but little is known about DMD/BMD genetic profile in Brazil. Hence, we recruited patients with DMD and BMD from 8 neuromuscular reference centers along the country, and performed a comprehensive molecular investigation that included MLPA and NGS analyses. We evaluated 199 patients from 177 unrelated families: 166 with DMD, 32 with BMD and one 1...
January 24, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28115831/an-evaluation-of-adherence-in-patients-with-multiple-sclerosis-newly-initiating-treatment-with-a-self-injectable-or-an-oral-disease-modifying-drug
#3
Michael Munsell, Molly Frean, Joseph Menzin, Amy L Phillips
OBJECTIVE: As the multiple sclerosis (MS) disease-modifying drug (DMD) treatment options have expanded to include oral therapies, it is important to understand whether route of administration is associated with DMD adherence. The objective of this study was to compare adherence to DMDs in patients with MS newly initiating treatment with a self-injectable versus an oral DMD. METHODS: This retrospective database study used IMS Health Real World Data Adjudicated Claims - US data between July 1, 2010 and June 30, 2014...
2017: Patient Preference and Adherence
https://www.readbyqxmd.com/read/28089792/pharmacological-inhibition-of-pkc%C3%AE-counteracts-muscle-disease-in-a-mouse-model-of-duchenne-muscular-dystrophy
#4
V Marrocco, P Fiore, A Benedetti, S Pisu, E Rizzuto, A Musarò, L Madaro, B Lozanoska-Ochser, M Bouché
: Inflammation plays a considerable role in the progression of Duchenne Muscular Dystrophy (DMD), a severe muscle disease caused by a mutation in the dystrophin gene. We previously showed that genetic ablation of Protein Kinase C θ (PKCθ) in mdx, the mouse model of DMD, improves muscle healing and regeneration, preventing massive inflammation. To establish whether pharmacological targeting of PKCθ in DMD can be proposed as a therapeutic option, in this study we treated young mdx mice with the PKCθ inhibitor Compound 20 (C20)...
January 7, 2017: EBioMedicine
https://www.readbyqxmd.com/read/28076894/electrical-impedance-myography-for-assessment-of-duchenne-muscular-dystrophy
#5
Seward B Rutkove, Kush Kapur, Craig Zaidman, Jim S Wu, Amy Pasternak, Lavanya Madabusi, Sung Yim, Adam Pacheck, Heather Szelag, Tim Harrington, Basil T Darras
OBJECTIVE: Sensitive, objective and easily applied methods for evaluating disease progression and response to therapy are needed for clinical trials in Duchenne muscular dystrophy (DMD). In this study, we evaluated whether electrical impedance myography (EIM) could serve this purpose. METHODS: In this non-blinded study, 36 boys with DMD and 29 age-similar healthy boys underwent multifrequency EIM measurements for up to 2 years on 6 muscles unilaterally along with functional assessments...
January 11, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28043681/long-term-outcome-of-interdisciplinary-management-of-patients-with-duchenne-muscular-dystrophy-receiving-daily-glucocorticoid-treatment
#6
Brenda L Wong, Irina Rybalsky, Karen C Shellenbarger, Cuixia Tian, Mary A McMahon, Meilan M Rutter, Hemant Sawnani, John L Jefferies
OBJECTIVE: To evaluate clinical outcomes and steroid side effects in a cohort of patients with Duchenne muscular dystrophy (DMD) treated with long-term daily glucocorticoid therapy. Although daily glucocorticoid therapy has been shown to extend ambulatory function in DMD, less frequent dosing is often used because of side effect concerns. STUDY DESIGN: Retrospective study of 97 patients with DMD aged 10 to <16 years treated with daily glucocorticoid (89% on deflazacort) for a mean of 8...
December 30, 2016: Journal of Pediatrics
https://www.readbyqxmd.com/read/28042944/comparison-of-serum-raav-serotype-specific-antibodies-in-patients-with-duchenne-muscular-dystrophy-becker-muscular-dystrophy-inclusion-body-myositis-or-gne-myopathy
#7
Deborah Zygmunt, Kelly E Crowe, Kevin Flanigan, Paul T Martin
Recombinant Adeno-associated virus (rAAV) is a commonly used gene therapy vector for the delivery of therapeutic transgenes in a variety of human diseases, but pre-existing serum antibodies to viral capsid proteins can greatly inhibit rAAV transduction of tissues. We have assayed serum from patients with Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy (DMD), Inclusion Body Myositis (IBM), and GNE myopathy (GNE). These were compared to serum from otherwise normal human subjects to determine the extent of pre-existing serum antibodies to rAAVrh74, rAAV1, rAAV2, rAAV6, rAAV8 and rAAV9...
January 2, 2017: Human Gene Therapy
https://www.readbyqxmd.com/read/28028563/whole-genome-sequencing-reveals-a-7-base-pair-deletion-in-dmd-exon-42-in-a-dog-with-muscular-dystrophy
#8
Peter P Nghiem, Luca Bello, Cindy Balog-Alvarez, Sara Mata López, Amanda Bettis, Heather Barnett, Briana Hernandez, Scott J Schatzberg, Richard J Piercy, Joe N Kornegay
Dystrophin is a key cytoskeletal protein coded by the Duchenne muscular dystrophy (DMD) gene located on the X-chromosome. Truncating mutations in the DMD gene cause loss of dystrophin and the classical DMD clinical syndrome. Spontaneous DMD gene mutations and associated phenotypes occur in several other species. The mdx mouse model and the golden retriever muscular dystrophy (GRMD) canine model have been used extensively to study DMD disease pathogenesis and show efficacy and side effects of putative treatments...
December 27, 2016: Mammalian Genome: Official Journal of the International Mammalian Genome Society
https://www.readbyqxmd.com/read/27997693/genetic-ablation-of-p65-subunit-of-nf-%C3%AE%C2%BAb-in-mdx-mice-to-improve-muscle-physiological-function
#9
Xi Yin, Ying Tang, Jian Li, Anna T Dzuricky, Chuanqiang Pu, Freddie Fu, Bing Wang
INTRODUCTION: Duchenne muscular dystrophy (DMD) is a genetic muscle disease characterized by dystrophin deficiency. Beyond gene replacement, the question of whether ablation of the p65 gene of nuclear factor-kappa B (NF-κB) in DMD can improve muscle physiology function is unknown. In this study, we investigated muscle physiological improvement in mdx mice (DMD model) with a genetic reduction of NF-κB. METHODS: Muscle physiological function and histology were studied in 2-month-old mdx/p65(+/-) , wild-type (WT), mdx, and human minidystrophin gene transgenic mdx (TghΔDys/mdx) mice...
December 20, 2016: Muscle & Nerve
https://www.readbyqxmd.com/read/27974813/comparison-of-the-phenotypes-of-patients-harboring-in-frame-deletions-starting-at-exon-45-in-the-duchenne-muscular-dystrophy-gene-indicates-potential-for-the-development-of-exon-skipping-therapy
#10
Akinori Nakamura, Naoko Shiba, Daigo Miyazaki, Hitomi Nishizawa, Yuji Inaba, Noboru Fueki, Rika Maruyama, Yusuke Echigoya, Toshifumi Yokota
Exon skipping therapy has recently received attention for its ability to convert the phenotype of lethal Duchenne muscular dystrophy (DMD) to a more benign form, Becker muscular dystrophy (BMD), by correcting the open reading frame. This therapy has mainly focused on a hot-spot (exons 45-55) mutation in the DMD gene. Exon skipping of an entire stretch of exons 45-55 is an approach applicable to 46.9% of DMD patients. However, the resulting phenotype is not yet fully understood. Here we examined the clinical profiles of 24 patients with BMD resulting from deletions starting at exon 45...
December 15, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27936976/exon-skipping-a-first-in-class-strategy-for-duchenne-muscular-dystrophy
#11
Erik H Niks, Annemieke Aartsma-Rus
Exon skipping is a therapeutic approach for Duchenne muscular dystrophy (DMD) that has been in development for close to two decades. This approach uses antisense oligonucleotides (AONs) to modulate pre-mRNA splicing of dystrophin transcripts to restore the disrupted DMD reading frame. The approach has moved from in vitro proof of concept studies to the clinical trial phase and marketing authorization applications with regulators. The first AON (eteplirsen) has recently received accelerated approval by the Food and Drug Administration in the US...
February 2017: Expert Opinion on Biological Therapy
https://www.readbyqxmd.com/read/27926769/myocardial-fibrosis-progression-in-duchenne-and-becker-muscular-dystrophy-a-randomized-clinical-trial
#12
Marly Conceição Silva, Tiago Augusto Magalhães, Zilda Maria Alves Meira, Carlos Henrique Reis Esselin Rassi, Amanda Cristina de Souza Andrade, Paulo Sampaio Gutierrez, Clerio Francisco Azevedo, Juliana Gurgel-Giannetti, Mariz Vainzof, Mayana Zatz, Roberto Kalil-Filho, Carlos Eduardo Rochitte
Importance: In Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD), interventions reducing the progression of myocardial disease could affect survival. Objective: To assess the effect of early angiotensin-converting enzyme (ACE) inhibitor therapy in patients with normal left ventricular function on the progression of myocardial fibrosis (MF) identified on cardiovascular magnetic resonance (CMR). Design, Setting, and Participants: A randomized clinical trial conducted in 2 centers included 76 male patients with DMD or BMD undergoing 2 CMR studies with a 2-year interval for ventricular function and MF assessment...
February 1, 2017: JAMA Cardiology
https://www.readbyqxmd.com/read/27908661/uniform-low-level-dystrophin-expression-in-the-heart-partially-preserved-cardiac-function-in-an-aged-mouse-model-of-duchenne-cardiomyopathy
#13
Nalinda B Wasala, Yongping Yue, Jenna Vance, Dongsheng Duan
Dystrophin deficiency results in Duchenne cardiomyopathy, a primary cause of death in Duchenne muscular dystrophy (DMD). Gene therapy has shown great promise in ameliorating the cardiac phenotype in mouse models of DMD. However, it is not completely clear how much dystrophin is required to treat dystrophic heart disease. We and others have shown that mosaic dystrophin expression at the wild-type level, depending on the percentage of dystrophin positive cardiomyocytes, can either delay the onset of or fully prevent cardiomyopathy in dystrophin-null mdx mice...
November 29, 2016: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/27906108/heme-oxygenase-and-carbon-monoxide-protect-from-muscle-dystrophy
#14
Mun Chun Chan, Olivia Ziegler, Laura Liu, Glenn C Rowe, Saumya Das, Leo E Otterbein, Zoltan Arany
BACKGROUND: Duchenne muscle dystrophy (DMD) is one of the most common lethal genetic diseases of children worldwide and is 100% fatal. Steroids, the only therapy currently available, are marred by poor efficacy and a high side-effect profile. New therapeutic approaches are urgently needed. METHODS: Here, we leverage PGC-1α, a powerful transcriptional coactivator known to protect against dystrophy in the mdx murine model of DMD, to search for novel mechanisms of protection against dystrophy...
November 28, 2016: Skeletal Muscle
https://www.readbyqxmd.com/read/27906064/treatment-with-rgdf11-does-not-improve-the-dystrophic-muscle-pathology-of-mdx-mice
#15
Fabrizio Rinaldi, Yu Zhang, Ricardo Mondragon-Gonzalez, Jeffrey Harvey, Rita C R Perlingeiro
BACKGROUND: Duchenne muscular dystrophy (DMD) is an inherited lethal muscle wasting disease characterized by cycles of degeneration and regeneration, with no effective therapy. Growth differentiation factor 11 (GDF11), a member of the TGF-β superfamily and myostatin homologous, has been reported to have the capacity to reverse age-related skeletal muscle loss. These initial findings led us to investigate the ability of GDF11 to promote regeneration in the context of muscular dystrophy and determine whether it could be a candidate to slow down or reverse the disease progression in DMD...
June 14, 2016: Skeletal Muscle
https://www.readbyqxmd.com/read/27863231/exon-skipping-therapy
#16
Courtney S Young, April D Pyle
Exondys 51 is the first therapy for Duchenne muscular dystrophy (DMD) to have been granted accelerated approval by the FDA. Approval was granted based on using dystrophin expression as a surrogate marker. Exondys 51 targets DMD exon 51 for skipping to restore the reading frame for 13% of Duchenne patients.
November 17, 2016: Cell
https://www.readbyqxmd.com/read/27859827/elevated-phosphodiester-and-t2-levels-can-be-measured-in-the-absence-of-fat-infiltration-in-duchenne-muscular-dystrophy-patients
#17
M T Hooijmans, E H Niks, J Burakiewicz, J J G M Verschuuren, A G Webb, H E Kan
Quantitative MRI and MRS are increasingly important as non-invasive outcome measures in therapy development for Duchenne muscular dystrophy (DMD). Many studies have focussed on individual measures such as fat fraction and metabolite levels in relation to age and functionality, but much less attention has been given to how these indices relate to each other. Here, we assessed spatially resolved metabolic changes in leg muscles of DMD patients, and classified muscles according to the degree of fat replacement compared with healthy controls...
January 2017: NMR in Biomedicine
https://www.readbyqxmd.com/read/27854202/current-translational-research-and-murine-models-for-duchenne-muscular-dystrophy
#18
Merryl Rodrigues, Yusuke Echigoya, So-Ichiro Fukada, Toshifumi Yokota
Duchenne muscular dystrophy (DMD) is an X-linked genetic disorder characterized by progressive muscle degeneration. Mutations in the DMD gene result in the absence of dystrophin, a protein required for muscle strength and stability. Currently, there is no cure for DMD. Since murine models are relatively easy to genetically manipulate, cost effective, and easily reproducible due to their short generation time, they have helped to elucidate the pathobiology of dystrophin deficiency and to assess therapies for treating DMD...
March 3, 2016: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/27847715/analysis-of-pulmonary-function-test-in-korean-patients-with-duchenne-muscular-dystrophy-comparison-of-foreign-and-korean-reference-data
#19
Tae Sik Bang, Woo Hyuk Choi, Sang Hun Kim, Je-Sang Lee, Soo-Yeon Kim, Myung Jun Shin, Yong Beom Shin
OBJECTIVE: To determine the abnormal pulmonary function value in Korean Duchenne muscular dystrophy (DMD) patients, we performed a comparative analysis of the patients' pulmonary function value expressed as % of the overseas reference data and Korean healthy children and adolescent reference data. METHODS: We performed pulmonary function test (PFT) in a total of 27 DMD patients. We compared the patients' FVC% and FEV1% of the overseas reference data with those of the Korean children and adolescent reference data...
October 2016: Annals of Rehabilitation Medicine
https://www.readbyqxmd.com/read/27815032/pharmacological-therapy-for-the-prevention-and-management-of-cardiomyopathy-in-duchenne-muscular-dystrophy-a-systematic-review
#20
Basmah El-Aloul, Luis Altamirano-Diaz, Eugenio Zapata-Aldana, Rebecca Rodrigues, Monali S Malvankar-Mehta, Cam-Tu Nguyen, Craig Campbell
Cardiomyopathy is a major source of morbidity and mortality in Duchenne muscular dystrophy (DMD) patients now that respiratory care has improved. There is currently no definitive evidence guiding the management of DMD-associated cardiomyopathy (DMD-CM). The objective of this systematic review was to evaluate the effectiveness of pharmacotherapies for the prevention and/or management of DMD-CM and to determine the optimal timing to commence these interventions. A systematic search was conducted in January 2016 using MEDLINE, EMBASE and CINAHL databases and grey literature sources for studies evaluating the use of angiotensin-converting enzyme (ACE) inhibitors, angiotensin receptor blockers, beta-blockers or aldosterone antagonists...
October 11, 2016: Neuromuscular Disorders: NMD
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