Trial of Gene Therapy for Duchenne Muscular Dystrophy Put on Hold

The US Food and Drug Administration halts a study by Solid Biosciences after a patient experiences severe side effects following treatment.
Source: The Scientist - Category: Science Tags: News & Opinion Source Type: news

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Source: Neurology Today - Category: Neurology Tags: At the Bench Source Type: research
Limb-girdle muscular dystrophy type 2A (LGMD2A or LGMDR1) is a neuromuscular disorder caused by mutations in the calpain 3 gene (CAPN3). Previous experiments using adeno-associated viral (AAV) vector–mediated calpain 3 gene transfer in mice indicated cardiac toxicity associated with the ectopic expression of the calpain 3 transgene. Here, we performed a preliminary dose study in a severe double-knockout mouse model deficient in calpain 3 and dysferlin. We evaluated safety and biodistribution of AAV9-desmin-hCAPN3 vector administration to nonhuman primates (NHPs) with a dose of 3 x 1013 viral genomes/kg. Vector admini...
Source: Science Translational Medicine - Category: Biomedical Science Authors: Tags: Research Articles Source Type: research
This study demonstrates for the first time that senescent cells secrete functional LTs, significantly contributing to the LTs pool known to cause or exacerbate idiopathic pulmonary fibrosis. Against Senolytics https://www.fightaging.org/archives/2019/11/against-senolytics/ There is no consensus in science that is so strong as to have no heretics. So here we have an interview with a naysayer on the matter of senolytic treatments, who argues that the loss of senescent cells in aged tissues will cause more harm to long-term health than the damage they will do by remaining. To be clear, I think this to be a ...
Source: Fight Aging! - Category: Research Authors: Tags: Newsletters Source Type: blogs
DiscussionThe aim of the study is to investigate whether tamoxifen can reduce disease progression in ambulant and nonambulant patients with DMD over 48  weeks. Motor function measures comprise the primary endpoint, whereas further clinical and radiological assessments and laboratory biomarkers are performed to provide more data on safety and efficacy. An adjacent open-label extension phase is planned to test if earlier initiation of the treatment with tamoxifen (verum arm of double-blind phase) compared to a delayed start can reduce disease progression more efficiently.Trial registrationClinicalTrials.gov,NCT0335403...
Source: Trials - Category: Research Source Type: clinical trials
Publication date: Available online 25 October 2019Source: Stem Cell ResearchAuthor(s): Lionel O. Mavoungou, Samuel Neuenschwander, Uyen Pham, Pavithra S. Iyer, Nicolas MermodABSTRACTDuchenne muscular dystrophy (DMD) is a lethal muscle-wasting disease caused by the lack of dystrophin in muscle fibers that is currently without curative treatment. Mesoangioblasts (MABs) are multipotent progenitor cells that can differentiate to a myogenic lineage and that can be used to express Dystrophin upon transplantation into muscles, in autologous gene therapy approaches. However, their fate in the muscle environment remains poorly...
Source: Stem Cell Research - Category: Stem Cells Source Type: research
Nanorobots swimming in blood vessels, in silico clinical trials instead of experimenting with drugs on animals and people, remote brain surgeries with the help of 5G networks – the second part of our shortlist on some astonishing ideas and innovations that could give us a glimpse into the future of medicine is ready for you to digest. Here, we’re going beyond the first part with medical tricorders, the CRISPR/Cas-9 gene-editing method, and other futuristic medical technologies to watch for. 11) In silico clinical trials against testing drugs on animals As technologies transform every aspect of healthcare,...
Source: The Medical Futurist - Category: Information Technology Authors: Tags: Artificial Intelligence E-Patients Future of Medicine Future of Pharma Genomics Health Sensors & Trackers 3d printing AI bioprinting blockchain clinical trials CRISPR digital digital health drug development genetics Innovat Source Type: blogs
DUX4 de-repression causes Facioscapulohumeral muscular dystrophy (FSHD), which is associated with progressive muscle wasting and weakness that may lead to wheelchair dependence. There are currently no treatments that alter the course of FSHD and therapy development is an unmet need in the field. DUX4 genome editing using the CRISPR-Cas9 approach is promising but also has challenges, partly because the DUX4 gene is present in potentially hundreds of copies, embedded within identical or nearly identical D4Z4 repeats.
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research
Golden retriever muscular dystrophy dog (GRMD) parallels Duchenne muscular dystrophy (DMD) and is an appropriate pre-clinical large animal model for this disease. GRMD presents a spontaneous splice site single mutation in the dystrophin gene that leads to the skipping of exon 7, disruption of the reading frame and absence of protein. A promising approach to cure DMD is gene therapy via exon-skipping. We previously demonstrated that skipping of exons 6 to 9 using antisense sequences vectorized into adenoassociated vectors (AAV) reestablishes the translational reading frame obtaining a truncated Dystrophin with significantly...
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common muscular dystrophies. It is a dominant disorder caused by overexpression of DUX4. We previously demonstrated efficacy and safety for AAV.mi405, our DUX4-targeted RNAi-based gene therapy for FSHD. Here, we refined the product for use in a rodent toxicology and biodistribution study designed to support an IND application. To begin, we modified our first generation vector with a common stuffer sequence and amplicon for use in vector titration and biodistribution analyses.
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research
This study was planned to evaluate the targeted next-generation sequencing (NGS) as a single platform to detect all types of mutations in the DMD gene, thereby reducing the time and costs compared to conventional sequential testing and also provide precise genetic information for emerging gene therapies. Methods: The study included 20 unrelated families and 22 patients from an Indian population who were screened for DMD based on phenotypes such as scoliosis, toe walking and loss of ambulation. Peripheral blood DNA was isolated and subjected to multiplex ligation-dependent probe amplification (MLPA) and targeted NGS of...
Source: Indian J Med Res - Category: Research Authors: Tags: Indian J Med Res Source Type: research
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