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Audentes Therapeutics Appoints Mark A. Goldberg, M.D. to its Board of Directors
SAN FRANCISCO, Dec. 13, 2017 -- (Healthcare Sales & Marketing Network) -- Audentes Therapeutics, Inc. (Nasdaq: BOLD), a biotechnology company focused on developing and commercializing gene therapy products for patients living with serious, life-threatenin... Biopharmaceuticals, Personnel Audentes Therapeutics, gene therapy, X-Linked Myotubular Myopathy
Source: HSMN NewsFeed - December 13, 2017 Category: Pharmaceuticals Source Type: news

A multicenter, retrospective medical record review of X ‐linked myotubular myopathy: The recensus study
Muscle&Nerve,Volume 57, Issue 4, Page 550-560, April 2018.
Source: Muscle and Nerve - November 17, 2017 Category: Internal Medicine Source Type: research

Innovative therapeutic approaches for hereditary neuromuscular diseases.
Abstract Advances in the understanding of the genetic mechanisms and pathophysiology of neuromuscular diseases have recently led to the development of new, innovative and often mutation-specific therapeutic approaches. Methods used include splicing modification by antisense oligonucleotides, read-through of premature stopcodons, use of viral vectors to introduce genetic information, or optimizing the effectiveness of enzyme replacement therapies. The first drugs have already been approved for the treatment of Duchenne muscular dystrophy and spinal muscular atrophy. For other diseases, such as myotubular myopathy, ...
Source: Der Nervenarzt - August 31, 2018 Category: Neurology Authors: Kirschner J, Schoser B Tags: Nervenarzt Source Type: research

New therapeutic approaches and their readout
Currently there is no cure for muscular dystrophies but recently but promising treatments have emerged, highlighting the need of robust biomarkers. Several biomarkers have been proposed but none of them can monitor drug response longitudinally in a dose-dependent fashion. We recently demonstrated that in an atrophic muscle process, including muscular dystrophies, the myostatin pathway is intrinsically down-regulated to counter balance muscle wasting. This process was reversible in MTM1-deficient myotubular myopathy upon gene transfer leading to reactivation of the myostatin pathway.
Source: Neuromuscular Disorders - September 6, 2018 Category: Neurology Authors: J. Dumonceaux, V. Mariot, C. Le Guiner, I. Barthelemy, C. Hourd é, M. Montus, S. Blot, T. Voit Source Type: research

Congenital myopathies (cnm)
X-linked myotubular myopathy (XLMTM) is a rare neuromuscular disease with very heterogeneous clinical features varying from mild to severe with a death occurring in the first period of life mostly due to respiratory failure. Long term survivors with severe XLMTM remain often non-ambulant and need ventilation support. Less commonly, patients develop a mild phenotype, sometimes even starting during adulthood. Due to mutations in the  MTM1 gene located on the X-chromosome, the disorder predominantly affects males but female carriers can also develop symptoms.
Source: Neuromuscular Disorders - September 6, 2018 Category: Neurology Authors: M. Annoussamy, C. Lilien, T. Gidaro, V. Ch ê, U. Schara, A. D'Amico, J. Dowling, B. Darras, A. Daron, M. Mayer, A. Hernandez, C. Vuillerot, S. Fontaine, C. deLattre, R. Bellance, V. Biancalana, A. Buj-Bello, JR. Hogrel, H. Landy, L. Servais, NatHis-MTM Source Type: research

Characterization and genetic diagnosis of centronuclear myopathies in seven Chinese patients
AbstractCentronuclear myopathies (CNMs) are a group of clinically and genetically heterogeneous muscle disorders. Here, we report a cohort of seven CNM patients with their clinical, histological, and morphological features. In addition, using the next-generation sequencing (NGS) technique (5/7 patients), we identified small indels: intronic, exonic, and missense mutations inMTM1,DNM2, andRYR1 genes. Further genetic studies revealed skewed X-chromosome inactivation in two female patients carryingMTM1 mutations. Based on the results of genetic analysis, these seven patients were classified as (1) X-linked recessive myotubula...
Source: Neurological Sciences - September 19, 2018 Category: Neurology Source Type: research

GSE120336 Tamoxifen therapy in a murine model of myotubular myopathy (TAM4MTM)
Contributors : Nika Maani ; Nesrin Sabha ; Kamran Rezai ; Arun Ramani ; Linda Groom ; Nadine Eltayeb ; Faranak Mavandadnejad ; Andrea Pang ; Guilia Russo ; Michael Brundho ; Volker Haucke ; Robert Dirksen ; James DowlingSeries Type : Expression profiling by high throughput sequencingOrganism : Mus musculusPurpose: The goal of this study was to investigate the transcriptional profile of genes expressed in the quadriceps muscle of myotubularin deficient (Mtm1-/-) mice, and determine whether improvements in the pathophysiology of tamoxifen treated Mtm1-/- mice are a consequence of ER-dependent transcriptional modulation.Metho...
Source: GEO: Gene Expression Omnibus - September 23, 2018 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Mus musculus Source Type: research

Audentes Therapeutics Board of Directors Appoints Co-Founder and Chief Executive Officer Matthew R. Patterson as Chairman
Louis G. Lange, M.D., Ph.D. appointed as Lead Independent Director SAN FRANCISCO, Nov. 5, 2018 -- (Healthcare Sales & Marketing Network) -- Audentes Therapeutics, Inc. (Nasdaq: BOLD), a biotechnology company focused on developing and commercializing in... Biopharmaceuticals, Personnel Audentes Therapeutics, Myotubular Myopathy, Crigler-Najjar syndrome
Source: HSMN NewsFeed - November 5, 2018 Category: Pharmaceuticals Source Type: news

A molecule for fighting muscular paralysis
(Universit é de Gen è ve) Myotubular myopathy is a severe genetic disease that leads to muscle paralysis. Although no treatment currently exists, researchers from the UNIGE-with the University of Strasbourg,- have identified a molecule that not only greatly reduces the progression of the disease but also boosts life expectancy in animal models by a factor of seven. Since the molecule -- known as tamoxifen -- is already used for breast cancer, the researchers hope to soon set up a clinical trial.
Source: EurekAlert! - Medicine and Health - November 19, 2018 Category: International Medicine & Public Health Source Type: news

Interprofessional education (IPE) for respiratory care in neuromuscular disease (NMD) is feasible, and improves confidence in clinical practice
Conclusions: IPE offers a promising approach to training in respiratory care in NMD. Further work is required to determine whether IPE improves collaboration and clinical outcomes.
Source: European Respiratory Journal - November 19, 2018 Category: Respiratory Medicine Authors: Hare, A., Chatwin, M., Field, D., Tan, H.-L., Simonds, A. Tags: Medical education, web and internet Source Type: research

Genetic neuromuscular disorders: living the era of a therapeutic revolution. Part 2: diseases of motor neuron and skeletal muscle
AbstractThis is the second part of a two-part document intended to discuss recent therapeutic progresses in genetic neuromuscular disorders. The present review is for diseases of motor neuron and skeletal muscle, some of which reached recently the most innovative therapeutic approaches. Nusinersen, an SMN2 mRNA splicing modifier, was approved as first-ever therapy of spinal muscular atrophy (SMA) by FDA in 2016 and by EMA in 2017. The orally administered small-molecule risdiplam, which increases SMN protein levels similarly but also in peripheral organs, is tested in ongoing phase 2 and 3 trials. After positive results wit...
Source: Neurological Sciences - February 25, 2019 Category: Neurology Source Type: research

Ca2+-induced sarcoplasmic reticulum Ca2+ release in myotubularin-deficient muscle fibers.
Abstract Skeletal muscle deficiency in the 3-phosphoinositide (PtdInsP) phosphatase myotubularin (MTM1) causes myotubular myopathy which is associated with severe depression of voltage-activated sarcoplasmic reticulum Ca2+ release through ryanodine receptors. In the present study we aimed at further understanding how Ca2+ release is altered in MTM1-deficient muscle fibers, at rest and during activation. While in wild-type muscle fibers, SR Ca2+ release exhibits fast stereotyped kinetics of activation and decay throughout the voltage range of activation, Ca2+ release in MTM1-deficient muscle fibers exhibits slow an...
Source: Cell Calcium - April 9, 2019 Category: Cytology Authors: Kutchukian C, Szentesi P, Allard B, Buj-Bello A, Csernoch L, Jacquemond V Tags: Cell Calcium Source Type: research

New pharmacotherapies for genetic neuromuscular disorders: opportunities and challenges.
Abstract Introduction Genetic neuromuscular diseases (NMDs) constitute a heterogeneous group of rare conditions, including some of the most disabling conditions in childhood. Over the last decade, early diagnosis, multidisciplinary care and anticipatory treatment strategies have improved survival and quality of life of several conditions. Recently, advanced technologies have greatly expanded preclinical and clinical research, and specific therapies have been introduced for three diseases, namely enzyme replacement therapy for Pompe disease (PD), gene expression modulation and gene therapy for Duchenne muscular dys...
Source: Pharmacological Reviews - June 20, 2019 Category: Drugs & Pharmacology Authors: Ricci F, Vacchetti M, Brusa C, Vercelli L, Davico C, Vitiello B, Mongini T Tags: Expert Rev Clin Pharmacol Source Type: research

Gene therapies for neuromuscular diseases.
CONCLUSION: Gene therapies have the potential to significantly influence the course of neuromuscular diseases. First positive intermediate results have been published and the first treatment has recently been approved in the USA. Long-term data on sustained effects and toxicity of gene therapies are not yet available. These novel treatment options will present new challenges for the healthcare systems concerning diagnosis, treatment and reimbursement. PMID: 31286145 [PubMed - as supplied by publisher]
Source: Der Nervenarzt - July 7, 2019 Category: Neurology Authors: Saffari A, Weiler M, Hoffmann GF, Ziegler A Tags: Nervenarzt Source Type: research

P.105INCEPTUS pre-phase 1, prospective, non-interventional, natural history run-in study to evaluate subjects aged 4 years and younger with X-linked myotubular myopathy (XLMTM)
XLMTM is a rare disease caused by mutations in the MTM1 gene, leading to profound muscle weakness, respiratory failure and early death. INCEPTUS (NCT02704273) is a prospective, non-interventional study in patients (pts) ≤4 years old to characterize the course and natural history of XLMTM using neuromuscular and respiratory assessments and to identify adverse events (AEs). INCEPTUS will generate within-pt control data to support a Phase 1/2 gene therapy clinical trial (ASPIRO). As of 22MAR19, 32 male pts (0.3-4.6 years of age) have been enrolled and assessed every 3 months for up to 24 months.
Source: Neuromuscular Disorders - September 30, 2019 Category: Neurology Authors: L. Servais, P. Shieh, J. Dowling, N. Kuntz, W. M üller-Felber, B. Smith, C. Bönnemann, F. Muntoni, D. Bilder, T. Duong, R. Graham, M. Jain, M. Lawlor, V. MacBean, M. Noursalehi, T. Pitts, G. Rafferty, S. Rico, S. Prasad Source Type: research