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https://www.readbyqxmd.com/read/29774392/cost-effectiveness-of-ventricular-assist-device-destination-therapy-for-advanced-heart-failure-in-duchenne-muscular-dystrophy
#1
Defne A Magnetta, JaHyun Kang, Peter D Wearden, Kenneth J Smith, Brian Feingold
Destination ventricular assist device therapy (DT-VAD) is well accepted in select adults with medically refractory heart failure (HF) who are not transplant candidates; however, its use in younger patients with progressive diseases is unclear. We sought to evaluate the cost-effectiveness of DT-VAD in Duchenne muscular dystrophy (DMD) patients with advanced HF. We created a Markov-state transition model (5-year horizon) to compare survival, costs, and quality of life (QOL) between medical management and DT-VAD in DMD with advanced HF...
May 17, 2018: Pediatric Cardiology
https://www.readbyqxmd.com/read/29771942/antisense-pmo-cocktails-effectively-skip-dystrophin-exons-45-55-in-myotubes-transdifferentiated-from-dmd-patient-fibroblasts
#2
Joshua Lee, Yusuke Echigoya, William Duddy, Takashi Saito, Yoshitsugu Aoki, Shin'ichi Takeda, Toshifumi Yokota
Antisense-mediated exon skipping has made significant progress as a therapeutic platform in recent years, especially in the case of Duchenne muscular dystrophy (DMD). Despite FDA approval of eteplirsen-the first-ever antisense drug clinically marketed for DMD-exon skipping therapy still faces the significant hurdles of limited applicability and unknown truncated protein function. In-frame exon skipping of dystrophin exons 45-55 represents a significant approach to treating DMD, as a large proportion of patients harbor mutations within this "hotspot" region...
2018: PloS One
https://www.readbyqxmd.com/read/29771317/exon-skipping-advances-for-duchenne-muscular-dystrophy
#3
Lucía Echevarría, Philippine Aupy, Aurélie Goyenvalle
Duchenne muscular dystrophy (DMD) is a fatal genetic disorder characterized by progressive muscle wasting that has currently no cure. Exon-skipping strategy represents one of the most promising therapeutic approaches that aims to restore expression of a shorter but functional dystrophin protein. The antisense field has remarkably progress over the last years with recent accelerated approval of the first ASO-based therapy for DMD, Exondys 51, though the therapeutic benefit remains to be proven in patients. Despite clinical advances, the poor effective delivery to target all muscle remains the main hurdle for antisense drug therapy...
May 16, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29754258/glycerol-induced-injury-as-a-new-model-of-muscle-regeneration
#4
REVIEW
Mohamed A A Mahdy
Skeletal muscle regenerates efficiently following injuries and diseases. However, muscle regeneration is compromised in several conditions by adipocyte infiltration and excessive collagen deposition. Adipocyte infiltration is a characteristic feature of sarcopenia, diabetes, cachexia, muscular dystrophies and advanced cases of Duchenne muscular dystrophy (DMD), while excessive collagen deposition is a hallmark of muscular dystrophies and severe muscle injuries, such as lacerations, contusions and strains. Muscle adipogenesis and fibrosis are major causes of muscle weakness that impairs muscle function...
May 12, 2018: Cell and Tissue Research
https://www.readbyqxmd.com/read/29733899/cataract-development-associated-with-long-term-glucocorticoid-therapy-in-duchenne-muscular-dystrophy-patients
#5
Melissa L Rice, Brenda Wong, Paul S Horn, Michael B Yang
PURPOSE: To evaluate the development of cataracts or ocular hypertension in patients with Duchenne muscular dystrophy (DMD) on long-term GC treatment. METHODS: The medical records of DMD patients evaluated from 2010 to 2015 at a single center were reviewed retrospectively. The main outcome measures were prevalence of cataracts and ocular hypertension, age of first detection of cataract, time from initial steroid use to first detection of cataract, and relative risk of cataract development for deflazacort versus prednisone treatment...
May 4, 2018: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/29731743/antisense-phosphorodiamidate-morpholino-oligomers-as-novel-antiviral-compounds
#6
REVIEW
Yuchen Nan, Yan-Jin Zhang
Phosphorodiamidate morpholino oligomers (PMO) are short single-stranded DNA analogs that are built upon a backbone of morpholine rings connected by phosphorodiamidate linkages. As uncharged nucleic acid analogs, PMO bind to complementary sequences of target mRNA by Watson-Crick base pairing to block protein translation through steric blockade. PMO interference of viral protein translation operates independently of RNase H. Meanwhile, PMO are resistant to a variety of enzymes present in biologic fluids, a characteristic that makes them highly suitable for in vivo applications...
2018: Frontiers in Microbiology
https://www.readbyqxmd.com/read/29716436/efficacy-of-cladribine-tablets-in-high-disease-activity-subgroups-of-patients-with-relapsing-multiple-sclerosis-a-post-hoc-analysis-of-the-clarity-study
#7
Gavin Giovannoni, Per Soelberg Sorensen, Stuart Cook, Kottil W Rammohan, Peter Rieckmann, Giancarlo Comi, Fernando Dangond, Christine Hicking, Patrick Vermersch
BACKGROUND: In the CLARITY (CLAdRIbine Tablets treating multiple sclerosis orallY) study, Cladribine Tablets significantly improved clinical and magnetic resonance imaging (MRI) outcomes (vs placebo) in patients with relapsing-remitting multiple sclerosis. OBJECTIVE: Describe two clinically relevant definitions for patients with high disease activity (HDA) at baseline of the CLARITY study (utility verified in patients receiving placebo) and assess the treatment effects of Cladribine Tablets 3...
April 1, 2018: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/29692797/combined-therapies-for-duchenne-muscular-dystrophy-to-optimize-treatment-efficacy
#8
REVIEW
Gonzalo Cordova, Elisa Negroni, Claudio Cabello-Verrugio, Vincent Mouly, Capucine Trollet
Duchene Muscular Dystrophy (DMD) is the most frequent muscular dystrophy and one of the most severe due to the absence of the dystrophin protein. Typical pathological features include muscle weakness, muscle wasting, degeneration, and inflammation. At advanced stages DMD muscles present exacerbated extracellular matrix and fat accumulation. Recent progress in therapeutic approaches has allowed new strategies to be investigated, including pharmacological, gene-based and cell-based therapies. Gene and cell-based therapies are still limited by poor targeting and low efficiency in fibrotic dystrophic muscle, therefore it is increasingly evident that future treatments will have to include "combined therapies" to reach maximal efficiency...
2018: Frontiers in Genetics
https://www.readbyqxmd.com/read/29649068/is-exercise-the-right-medicine-for-dystrophic-muscle
#9
Hannah R Spaulding, Joshua T Selsby
INTRODUCTION: Duchenne muscular dystrophy (DMD) is a neuromuscular disease caused by a dystrophin protein deficiency. Dystrophin functions to stabilize and protect the muscle fiber during muscle contraction, thus the absence of functional dystrophin protein leads to muscle injury. DMD patients experience progressive muscle necrosis, loss of function, and ultimately succumb to respiratory failure or cardiomyopathy. Exercise is known to improve muscle health and strength in healthy individuals as well as positively impact other systems...
April 11, 2018: Medicine and Science in Sports and Exercise
https://www.readbyqxmd.com/read/29642926/zidovudine-ameliorates-pathology-in-the-mouse-model-of-duchenne-muscular-dystrophy-via-p2rx7-purinoceptor-antagonism
#10
Rasha Al-Khalidi, Chiara Panicucci, Paul Cox, Natalia Chira, Justyna Róg, Christopher N J Young, Rhiannon E McGeehan, Kameshwari Ambati, Jayakrishna Ambati, Krzysztof Zabłocki, Elisabetta Gazzerro, Stephen Arkle, Claudio Bruno, Dariusz C Górecki
Duchenne muscular dystrophy (DMD) is the most common inherited muscle disorder that causes severe disability and death of young men. This disease is characterized by progressive muscle degeneration aggravated by sterile inflammation and is also associated with cognitive impairment and low bone density. Given that no current treatment can improve the long-term outcome, approaches with a strong translational potential are urgently needed. Duchenne muscular dystrophy (DMD) alters P2RX7 signaling in both muscle and inflammatory cells and inhibition of this receptor resulted in a significant attenuation of muscle and non-muscle symptoms in DMDmdx mouse model...
April 11, 2018: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/29623241/collective-statement-regarding-patient-access-to-approved-therapies-from-the-center-directors-of-parent-project-muscular-dystrophy-s-certified-duchenne-care-centers
#11
Cristian Ionita, Kathi Kinnett, Katherine Mathews
The dystrophinopathies (Duchenne [DMD] and Becker muscular dystrophy) are progressive diseases that until recently had no specific treatments. New FDA pathways to drug approval in rare diseases have resulted in a dramatic increase in the number of treatment trials for DMD and recently, two approved drugs. Health insurance policies for DMD products have been constructed with limited input from neuromuscular specialists directly involved in patient care and without patient input. These policies often reflect a lack of understanding of the disease, clinical population or the treatment...
March 15, 2018: PLoS Currents
https://www.readbyqxmd.com/read/29579078/a-novel-high-throughput-immunofluorescence-analysis-method-for-quantifying-dystrophin-intensity-in-entire-transverse-sections-of-duchenne-muscular-dystrophy-muscle-biopsy-samples
#12
Valentina Sardone, Matthew Ellis, Silvia Torelli, Lucy Feng, Darren Chambers, Deborah Eastwood, Caroline Sewry, Rahul Phadke, Jennifer E Morgan, Francesco Muntoni
Clinical trials using strategies aimed at inducing dystrophin expression in Duchenne muscular dystrophy (DMD) are underway or at advanced planning stage, including splice switching antisense oligonucleotides (AON), drugs to induce read-through of nonsense mutations and viral mediated gene therapy. In all these strategies, different dystrophin proteins, often internally deleted, are produced, similar to those found in patients with the milder DMD allelic variant, Becker muscular dystrophy (BMD). The primary biological endpoint of these trials is to induce functional dystrophin expression...
2018: PloS One
https://www.readbyqxmd.com/read/29571923/prevalence-and-long-term-monitoring-of-humoral-immunity-against-adeno-associated-virus-in-duchenne-muscular-dystrophy-patients
#13
Christian Leborgne, Virginie Latournerie, Sylvie Boutin, Diana Desgue, Aliénor Quéré, Elodie Pignot, Fanny Collaud, Séverine Charles, Marcelo Simon Sola, Elisa Masat, Fabienne Jouen, Olivier Boyer, Carole Masurier, Federico Mingozzi, Philippe Veron
Adeno-associated virus (AAV) vectors are promising candidates for gene therapy and have been explored as gene delivery vehicles in the treatment of Duchenne Muscular Dystrophy (DMD). Recent studies showed compelling evidence of therapeutic efficacy in large animal models following the intravenous delivery of AAV vectors expressing truncated forms of dystrophin. However, to translate these results to humans, careful assessment of the prevalence of anti-AAV neutralizing antibodies (NAbs) is needed, as presence of preexisting NABs to AAV in serum have been associated with a drastic diminution of vector transduction...
March 16, 2018: Cellular Immunology
https://www.readbyqxmd.com/read/29564913/downregulation-of-mirna-29-23-and-21-in-urine-of-duchenne-muscular-dystrophy-patients
#14
Francesco Catapano, Joana Domingos, Mark Perry, Valeria Ricotti, Lauren Phillips, Laurent Servais, Andreea Seferian, Imelda de Groot, Yvonne D Krom, Erik H Niks, Jan Jgm Verschuuren, Volker Straub, Thomas Voit, Jennifer Morgan, Francesco Muntoni
AIM: To study the signature of 87 urinary miRNAs in Duchenne muscular dystrophy (DMD) patients, select the most dysregulated and determine statistically significant differences in their expression between controls, ambulant (A) and nonambulant (NA) DMD patients, and patients on different corticosteroid regimens. Patients/materials & methods: Urine was collected from control (n = 20), A (n = 31) and NA (n = 23) DMD patients. miRNA expression was measured by reverse transcription-quantitative PCR...
March 22, 2018: Epigenomics
https://www.readbyqxmd.com/read/29561896/the-dual-ccr2-ccr5-chemokine-receptor-antagonist-cenicriviroc-reduces-macrophage-infiltration-and-disease-severity-in-duchenne-muscular-dystrophy-dmdmdx-4cv-mice
#15
Feng Liang, Christian Giordano, Dong Shang, Qian Li, Basil J Petrof
Duchenne muscular dystrophy (DMD) is characterized by progressive muscle weakness which is ultimately fatal, most often due to involvement of the diaphragm. Macrophage infiltration of dystrophic muscles has been strongly linked to muscle damage and fibrosis in DMD. We hypothesized that cenicriviroc (CVC), a dual chemokine receptor (CCR2/CCR5) antagonist currently under clinical evaluation for other diseases, could prevent macrophage accumulation and blunt disease progression in the diaphragms of mdx mice (genetic homologue of DMD)...
2018: PloS One
https://www.readbyqxmd.com/read/29546607/dystrophin-expressing-chimeric-dec-human-cells-provide-a-potential-therapy-for-duchenne-muscular-dystrophy
#16
Maria Siemionow, Joanna Cwykiel, Ahlke Heydemann, Jesus Garcia, Enza Marchese, Krzysztof Siemionow, Erzsebet Szilagyi
Duchenne Muscular Dystrophy (DMD) is a progressive and lethal disease caused by mutations of the dystrophin gene. Currently no cure exists. Stem cell therapies targeting DMD are challenged by limited engraftment and rejection despite the use of immunosuppression. There is an urgent need to introduce new stem cell-based therapies that exhibit low allogenic profiles and improved cell engraftment. In this proof-of-concept study, we develop and test a new human stem cell-based approach to increase engraftment, limit rejection, and restore dystrophin expression in the mdx/scid mouse model of DMD...
March 15, 2018: Stem Cell Reviews
https://www.readbyqxmd.com/read/29535188/dystrophin-s-central-domain-forms-a-complex-filament-that-becomes-disorganized-by-in-frame-deletions
#17
Olivier Delalande, Anne-Elisabeth Molza, Raphael Dos Santos-Morais, Angélique Chéron, Émeline Pollet, Céline Raguenes-Nicol, Christophe Tascon, Emmanuel Giudice, Marine Guilbaud, Aurélie Nicolas, Arnaud Bondon, France Leturcq, Nicolas Férey, Marc Baaden, Javier Perez, Pierre Roblin, France Piétri-Rouxel, Jean-François Hubert, Mirjam Czjzek, Elisabeth Le Rumeur
Dystrophin, encoded by the DMD gene, is critical for maintaining plasma membrane integrity during muscle contraction events. Mutations in the DMD gene disrupting the reading frame prevent dystrophin production and result in the high severe Duchenne muscular dystrophy (DMD); in-frame internal deletions allow production of partly functional internally deleted dystrophin and result in the less severe Becker muscular dystrophy (BMD). Many known BMD deletions occur in dystrophin's central domain, generally considered to be a monotonous rod-shaped domain based on the knowledge of spectrin-family proteins...
March 13, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29533090/genomics-and-cure-understanding-narratives-of-patients-with-duchenne-muscular-dystrophy-in-japan
#18
Masae Kato
Globally, genomics research is expected to enhance the health of patients with intractable diseases such as Duchenne muscular dystrophy (DMD). But how do patients perceive medical and scientific attempts at creating drugs and finding cure, and why? Since the 1990s, a number of clinical trials for patients of DMD have been organized. Among them are a gene therapy and exon skipping, and they indicate the possibility of finding therapies for DMD patients. Since 2011, Japanese medical institutions have been participating in Global Clinical Trials so that Japanese DMD patients can have access to them once developed...
April 2018: Anthropology & Medicine
https://www.readbyqxmd.com/read/29531771/progressive-left-ventricular-dysfunction-and-long-term-outcomes-in-patients-with-duchenne-muscular-dystrophy-receiving-cardiopulmonary-therapies
#19
Mary Wang, David J Birnkrant, Dennis M Super, Irwin B Jacobs, Robert C Bahler
Objective: To describe the natural history of cardiomyopathy in patients with Duchenne muscular dystrophy (DMD) who are receiving contemporary therapies. Methods: This is a single-institution retrospective cohort study of 57 patients aged >15 years with DMD. Serial digital echocardiograms were performed over a median follow-up of 8 years. Left ventricular dysfunction (LVD) was defined as shortening fraction (SF) <29% plus focal wall motion abnormalities...
2018: Open Heart
https://www.readbyqxmd.com/read/29528247/managing-the-side-effects-of-multiple-sclerosis-therapy-pharmacotherapy-options-for-patients
#20
Paulus S Rommer, Uwe K Zettl
Multiple sclerosis (MS) is an immune-mediated and neurodegenerative disease with an unpredictable outcome. Immune-modulatory treatment aims at decreasing long-term disability. With the increasing number of treatment options, it is essential to fully digest the possible side effects of the available therapeutics and to monitor patients is essential. Areas covered: All approved disease-modifying drugs (DMD) for MS are discussed in this review. Mode of action, adverse effects, reported risks for infections and malignancies, and pregnancy related issues are discussed in the review...
March 12, 2018: Expert Opinion on Pharmacotherapy
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