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DMD therapy

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
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
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
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
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
A Nascimento Osorio, J Medina Cantillo, A Camacho Salas, M Madruga Garrido, J J Vilchez Padilla
INTRODUCTION: Duchenne muscular dystrophy (DMD) is the most common myopathy in children, with a worldwide prevalence of approximately 0.5 cases per 10,000 male births. It is characterised by a progressive muscular weakness manifesting in early childhood, with the subsequent appearance of musculoskeletal, respiratory, and cardiac complications, causing disability, dependence, and premature death. Currently, DMD is mainly managed with multidisciplinary symptomatic treatment, with favourable results in terms of the progression of the disease...
March 8, 2018: Neurología: Publicación Oficial de la Sociedad Española de Neurología
Toru Koda, Akiko Namba, Yuji Nakatsuji, Masaaki Niino, Yusei Miyazaki, Tomoyuki Sugimoto, Makoto Kinoshita, Kazushiro Takata, Kazuya Yamashita, Mikito Shimizu, Toshiyuki Fukazawa, Atsushi Kumanogoh, Hideki Mochizuki, Tatsusada Okuno
We previously demonstrated that patients with multiple sclerosis (MS) of high serum Sema4A levels are resistant to IFN-β therapy. To further elucidate the role of serum Sema4A as a biomarker for therapeutic stratification in MS patients, it is important to clarify the efficacy of other disease-modifying drugs (DMD) in those with high serum Sema4A levels. Thus, in this study we investigated whether fingolimod has beneficial effects on MS patients with high Sema4A levels. We retrospectively analyzed annualized relapse rate (ARR) and Expanded Disability Status Scale (EDSS) change in 56 relapsing-remitting multiple sclerosis (RRMS) patients who had been treated with fingolimod, including those who switched from IFN-β therapy...
2018: PloS One
Pavithra S Iyer, Lionel O Mavoungou, Flavio Ronzoni, Joanna Zemla, Emanuel Schmid-Siegert, Stefania Antonini, Laurence A Neff, Olivier M Dorchies, Marisa Jaconi, Malgorzata Lekka, Graziella Messina, Nicolas Mermod
Duchenne muscular dystrophy (DMD) is a lethal muscle-wasting disease currently without cure. We investigated the use of the PiggyBac transposon for full-length dystrophin expression in murine mesoangioblast (MABs) progenitor cells. DMD murine MABs were transfected with transposable expression vectors for full-length dystrophin and transplanted intramuscularly or intra-arterially into mdx/SCID mice. Intra-arterial delivery indicated that the MABs could migrate to regenerating muscles to mediate dystrophin expression...
February 2, 2018: Molecular Therapy: the Journal of the American Society of Gene Therapy
Mark A Aminzadeh, Russell G Rogers, Mario Fournier, Rachel E Tobin, Xuan Guan, Martin K Childers, Allen M Andres, David J Taylor, Ahmed Ibrahim, Xiangming Ding, Angelo Torrente, Joshua M Goldhaber, Michael Lewis, Roberta A Gottlieb, Ronald A Victor, Eduardo Marbán
Genetic deficiency of dystrophin leads to disability and premature death in Duchenne muscular dystrophy (DMD), affecting the heart as well as skeletal muscle. Here, we report that clinical-stage cardiac progenitor cells, known as cardiosphere-derived cells (CDCs), improve cardiac and skeletal myopathy in the mdx mouse model of DMD. Injection of CDCs into the hearts of mdx mice augments cardiac function, ambulatory capacity, and survival. Exosomes secreted by human CDCs reproduce the benefits of CDCs in mdx mice and in human induced pluripotent stem cell-derived Duchenne cardiomyocytes...
February 17, 2018: Stem Cell Reports
Dongsheng Duan
Whole body systemic gene therapy is likely the most effective way to greatly reduce the disease burden of Duchenne muscular dystrophy (DMD), an X-linked inherited muscle disease that leads to premature death in early adulthood. Genetically, DMD is due to null mutation of the dystrophin gene, one of the largest genes in the genome. Recent studies have shown highly promising improvements in animal models with intravascular delivery of the engineered micro-dystrophin gene by adeno-associated virus (AAV). Several human trials are now started to advance AAV micro-dystrophin therapy to DMD patients...
February 20, 2018: Human Gene Therapy
Raphael Henrique Déa Cirino, Rosana Herminia Scola, Renata Dal-Prá Ducci, Ana Cristina Camarozano Wermelinger, Claudia Suemi Kamoi Kay, Paulo José Lorenzoni, Lineu Cesar Werneck, Eliane Ribeiro Carmes, Claudio Leinig Pereira da Cunha
INTRODUCTION: Early detection of left ventricular systolic dysfunction (LVSD) is important for therapeutic strategies for Duchenne muscular dystrophy (DMD) patients. We analyzed the myocardial strain by echocardiography for the early detection of LVSD and determined the predictors of early LVSD. METHODS: Cross-sectional study of forty DMD patients with normal left ventricular ejection fraction. Global longitudinal strain (GLS) was used to analyse subtle disturbances in the longitudinal contraction of the myocardium...
February 14, 2018: Muscle & Nerve
Antonella LoMauro, Marianna Romei, Sandra Gandossini, Riccardo Pascuzzo, Simone Vantini, Maria Grazia D'Angelo, Andrea Aliverti
In Duchenne muscular dystrophy (DMD), it is still to be determined if specific timepoints can be identified during the natural evolution of respiratory dysfunction from childhood to adulthood and if scoliosis, steroid therapy and nocturnal noninvasive mechanical ventilation (NIMV) have any effect on it.In a 7-year retrospective study performed on 115 DMD patients (6-24 years), evaluated once or twice per year, with 574 visits in total, evolution mean curves of spirometry, lung volumes, spontaneous breathing and thoraco-abdominal pattern (measured by optoelectronic plethysmography) parameters were obtained by nonlinear regression model analysis...
February 2018: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
Courtney A Bishop, Valeria Ricotti, Christopher D J Sinclair, Matthew R B Evans, Jordan W Butler, Jasper M Morrow, Michael G Hanna, Paul M Matthews, Tarek A Yousry, Francesco Muntoni, John S Thornton, Rexford D Newbould, Robert L Janiczek
Subjects with Duchenne Muscular Dystrophy (DMD) suffer from progressive muscle damage leading to diaphragmatic weakness that ultimately requires ventilation. Emerging treatments have generated interest in better characterizing the natural history of respiratory impairment in DMD and responses to therapy. Dynamic (cine) Magnetic Resonance Imaging (MRI) may provide a more sensitive measure of diaphragm function in DMD than the commonly used spirometry. This study presents an analysis pipeline for measuring parameters of diaphragmatic motion from dynamic MRI and its application to investigate MRI measures of respiratory function in both healthy controls and non-ambulant DMD boys...
2018: Frontiers in Neurology
Rupam Sinha, Soumyabrata Sarkar, Tanya Khaitan, Soumyajit Dutta
Muscular dystrophies are a clinically and heterogeneous group of disorders that all share clinical characteristics of progressive muscular weakness. Duchenne muscular dystrophy (DMD) is the most common X-linked disorder muscular dystrophy in children, presenting in early childhood and characterized by proximal muscle weakness and calf hypertrophy in affected boys. There is usually delay in motor development and eventually wheelchair confinement followed by premature death from cardiac or respiratory complications...
July 2017: Journal of Family Medicine and Primary Care
Abdelrahim Abdrabou Sadek, Shaimaa Mohamed Mahmoud, Mohammed Abd El-Aal, Ahmed Ahmed Allam, Walaa Ibrahim Abd El-Halim
Background: Duchenne muscular dystrophy (DMD) is the most common childhood form of muscular dystrophy. The incidence of cardiomyopathy in DMD increases with age, so its early detection is important because institution of cardioprotective medical therapies may slow adverse remodeling and attenuate heart failure symptoms in these patients. Objective: To assess the cardiac functions in children clinically suspected to have DMD. Methods: Over a one-year period, 28 male children aged from 3 to 18 years old, who met the criteria for diagnosis of DMD compared to 47 healthy controls children, were approached to participate in the study...
November 2017: Electronic Physician
David J Birnkrant, Katharine Bushby, Carla M Bann, Benjamin A Alman, Susan D Apkon, Angela Blackwell, Laura E Case, Linda Cripe, Stasia Hadjiyannakis, Aaron K Olson, Daniel W Sheehan, Julie Bolen, David R Weber, Leanne M Ward
A coordinated, multidisciplinary approach to care is essential for optimum management of the primary manifestations and secondary complications of Duchenne muscular dystrophy (DMD). Contemporary care has been shaped by the availability of more sensitive diagnostic techniques and the earlier use of therapeutic interventions, which have the potential to improve patients' duration and quality of life. In part 2 of this update of the DMD care considerations, we present the latest recommendations for respiratory, cardiac, bone health and osteoporosis, and orthopaedic and surgical management for boys and men with DMD...
January 23, 2018: Lancet Neurology
David J Birnkrant, Katharine Bushby, Carla M Bann, Susan D Apkon, Angela Blackwell, David Brumbaugh, Laura E Case, Paula R Clemens, Stasia Hadjiyannakis, Shree Pandya, Natalie Street, Jean Tomezsko, Kathryn R Wagner, Leanne M Ward, David R Weber
Since the publication of the Duchenne muscular dystrophy (DMD) care considerations in 2010, multidisciplinary care of this severe, progressive neuromuscular disease has evolved. In conjunction with improved patient survival, a shift to more anticipatory diagnostic and therapeutic strategies has occurred, with a renewed focus on patient quality of life. In 2014, a steering committee of experts from a wide range of disciplines was established to update the 2010 DMD care considerations, with the goal of improving patient care...
January 23, 2018: Lancet Neurology
Nadav Sahar, Richard A Kozarek, Zaheer S Kanji, Shingo Chihara, S Ian Gan, Michael Gluck, Michael Larsen, Andrew S Ross, Shayan Irani
BACKGROUND AND AIMS: Although society guidelines recommend a short course of antibiotics after drainage of walled-off necrosis (WON), the exact duration is unclear. METHODS: This is a retrospective review of patients with no prior antibiotic exposure who underwent dual modality drainage (DMD) for sterile WON from 2008 to 2017. Patients were grouped into- short duration (SD, ≤5 days) vs. long duration (LD, >5 days). The main outcome was the frequency of recurrent infections...
February 2, 2018: Journal of Gastroenterology and Hepatology
Erik Landfeldt, Anna Castelo-Branco, Axel Svedbom, Emil Löfroth, Andrius Kavaliunas, Jan Hillert
OBJECTIVE: The objective of this retrospective, observational study was to estimate the long-term impact of early treatment of multiple sclerosis (MS) on the risk of disability pension. METHODS: Our cohort comprised patients with MS in Sweden, identified in a nationwide disease-specific register (the Swedish Multiple Sclerosis Registry), who started treatment with a disease-modifying drug (DMD) between January 1, 2002, and December 31, 2012. We analyzed the association between time from onset of MS to treatment initiation and full-time disability pension using survival analysis...
February 1, 2018: Journal of Neurology
Vassili Crispi, Antonios Matsakas
Duchenne muscular dystrophy (DMD) is a progressive wasting disease of skeletal and cardiac muscles, representing one of the most common recessive fatal inherited genetic diseases with 1:3500-1:5000 in yearly incidence. It is caused by mutations in the DMD gene that encodes the membrane-associated dystrophin protein. Over the years, many have been the approaches to management of DMD, but despite all efforts, no effective treatment has yet been discovered. Hope for the development of potential therapeutics has followed the recent advances in genome editing and gene therapy...
January 31, 2018: Postgraduate Medical Journal
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