New approach could be used to treat Duchenne muscular dystrophy

New approach could be used to treat Duchenne muscular dystrophy: "Scientists at the UCLA Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research and Center for Duchenne Muscular Dystrophy at UCLA have developed a new approach that could eventually be used to treat Duchenne muscular dystrophy. The stem cell gene therapy could be applicable for 60 percent of people with Duchenne, which affects approximately 1 in 5,000 boys in the U.S. and is the most common fatal childhood genetic disease.

The approach uses a technology called CRISPR/Cas9 to correct genetic mutations that cause the disease. The study, which was led by co-senior authors April Pyle and Melissa Spencer and first author Courtney Young, was published in the journal Cell Stem Cell.

The researchers designed the approach to be useful in a clinical setting in the future.

"This method is likely 10 years away from being tested in people," said Spencer, professor of neurology in the UCLA David Geffen School of Medicine, co-director of the Center for Duchenne Muscular Dystrophy at UCLA and member of the Broad Stem Cell Research Center "It is important that we take all the necessary steps to maximize safety while quickly bringing a therapeutic treatment to patients in clinical trials.""



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» Parent Project Italy Conference – Research Updates Action Duchenne

» Parent Project Italy Conference – Research Updates Action Duchenne: "Last weekend the Action Duchenne team attended the Italian Parent Project conference in Rome. The first session concentrated on pre-clinical updates, of which an interesting session was on CRISPR genome editing and DMD. The technique is called CRISPR and is a “cut and sew gene” that allows you to edit and correct the DNA with a potential, precision and versatility. The mechanism of this “molecular scissors”is based on the combination of few elements: the Cas9 protein, which is an enzyme capable of cutting the DNA, and a guide RNA, molecule designed ad hoc in the laboratory, which directs the cut of Cas9 in a very specific point, for example at the level of a mutation. This approach has seen many recent advances and could potentially tackle duplications and large deletions in the dystrophin gene, but, much more needs to be understood, for example off-target effects of making changes directly at the DNA level."



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» Duchenne Accident and Emergency Pack now available online! Action Duchenne

» Duchenne Accident and Emergency Pack now available online! Action Duchenne:



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We are delighted to announce that the Duchenne Accident & Emergency File is now available in soft copy. Web-based and soon to be available on IOS and android, it will be free to download. A link to the web site can be found at http://duchenneemergency.co.uk/. You will be able to find the app by searching for Duchenne A&E in the appropriate search box for your phone/tablet. Hard copies of the file are still available from Action Duchenne.

Expanding the Duchenne Therapeutic Opportunities by Targeting Myostatin - PPMD Community

Expanding the Duchenne Therapeutic Opportunities by Targeting Myostatin - PPMD Community: "We all understand that Duchenne muscular dystrophy is characterized by muscle wasting and associated loss of function and that there are considerable efforts underway to develop drugs and biologics (cell and gene therapy) to address the primary problem in Duchenne—the absence of dystrophin. Restoring dystrophin or replacing dystrophin with replacement protein are considered foundational therapies.
 
That said, the Duchenne community is well aware of the need for combination therapies. Combinations would include compounds that target what is referred to as the ‘downstream pathology’ or the changes that occur because dystrophin is absent. This includes anti-inflammatories, anti-fibrotics, factors that control muscle regeneration and fiber size, compounds that improve circulation to muscle, and compounds that improve mitochondrial function (mitochondria are considered the powerhouses of cells). We are all hopeful that by combining several of these targeted therapies, we could end Duchenne, stop progression for every individual. This is the dream of precision or personalized medicine. The right drug, at the right time, in the right dose for the right person. It requires planning and it will require combinations."



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Could statins treat muscular dystrophy? An interview with Dr. Nick Whitehead and Dr Stan Froehner

Could statins treat muscular dystrophy? An interview with Dr. Nick Whitehead and Dr Stan Froehner: "Statins are widely known for their use in improving cardiovascular health through lowering blood cholesterol levels. What prompted you to study their use in Duchenne muscular dystrophy (DMD)?"



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» Translarna Update: Action Duchenne submit FOI Requests to HM Treasury and the Department of Health Action Duchenne

» Translarna Update: Action Duchenne submit FOI Requests to HM Treasury and the Department of Health Action Duchenne: "Translarna Update: Action Duchenne submit FOI Requests to HM Treasury and the Department of Health
Posted on: July 20th, 2015 | 1 comment

Action Duchenne have submitted Freedom of Information (FOI) requests to both Her Majesty’s Treasury and the Department of Health as part of the ongoing campaign for access to Translarna."



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Study finds that muscle fibrosis inhibition causes increases in utrophin levels and revertant myofibers in Duchenne Muscular Dystrophy

Study finds that muscle fibrosis inhibition causes increases in utrophin levels and revertant myofibers in Duchenne Muscular Dystrophy: "In a recent study published in Oncotarget, researchers found an inverse correlation between the level of muscle fibrosis, utrophin and the number of revertant myofibers in Duchenne Muscular Dystrophy (DMD).

Results from this study reveal common links between the fibrotic and utrophin-synthesis pathways and offer new insights into the regulation of utrophin synthesis in Duchenne Muscular Dystrophy."



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