Leukaemia drug could slow progression of Duchenne muscular dystrophy

Leukaemia drug could slow progression of Duchenne muscular dystrophy: "A drug commonly used to treat leukaemia is showing potential as a treatment that could slow the progression of the muscle-wasting condition, Duchenne muscular dystrophy.

Duchenne muscular dystrophy most commonly affects boys, with around 2,400 people in the UK affected by the condition. There is currently no cure and most patients are not expected to live past the age of 30.

Researchers at the University of Sheffield investigated a drug called dasatinib, which works by blocking certain chemical signals that stimulate the growth of cancer cells. They found the same drug will also switch off similar signals in a protein implicated in Duchenne Muscular Dystrophy (DMD). This protein, called dystroglycan, has a part to play in maintaining healthy muscle tissue."



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New robotic arm could support daily activities of patients with Duchenne Muscular Dystrophy

New robotic arm could support daily activities of patients with Duchenne Muscular Dystrophy: "Researchers from the University of Twente's MIRA research centre, together with the VUmc, TU Delft and the Radboud umc, have developed the A-Gear: a robotic arm that can support the daily activities of people suffering the muscular disease Duchenne Muscular Dystrophy. They recently put the final touches to the first prototype for a discreet, body-connected support aid that can be worn under the clothing and that can support independent operation of the arm during important daily activities. "



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Summit Therapeutics gets nod for 'PhaseOut DMD' trial - Proactiveinvestors (UK)

Summit Therapeutics gets nod for 'PhaseOut DMD' trial - Proactiveinvestors (UK): "Drug developer Summit Therapeutics (NASDAQ:SMMT, LON:SUMM) has received regulatory clearance to initiate a Phase 2 proof of concept clinical trial of its SMT C1100 candidate.

The “PhaseOut DMD” trial will be on patients with Duchenne Muscular Dystrophy (DMD), a muscle wasting disorder that affects boys and young men.

It aims to provide proof of concept for SMT C1100 and utrophin modulation through measurements of muscle fat infiltration, as well as measuring utrophin protein and muscle fibre regeneration in muscle biopsies.

SMT C1100 is an orally administered, small molecule utrophin modulator that the company believes has the potential to treat all boys and young men with DMD, regardless of their underlying dystrophin gene mutation. Utrophin is functionally and structurally similar to dystrophin, a protein that is is essential for the healthy function of muscles.

The 48-week open-label trial is expected to enrol up to 40 boys ranging in age from their fifth to their tenth birthdays at sites in Europe and the US, though trials in the latter will require the US Food and Drug Administration's (FDA) approval."



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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.