Duchenne Muscular Dystrophy - Summit

Duchenne Muscular Dystrophy - Summit: "Our utrophin modulation programme is developing oral, small molecule drugs that increase the production of a protein call utrophin.  Utrophin is a naturally occurring protein that is functionally and structurally similar to dystrophin.  Utrophin is produced during the early stages of muscle fibre development but is switched-off in maturing muscle fibres, at which point dystrophin is produced to perform the same functional role.  When a muscle fibre is damaged, utrophin is also produced during the early stages of the repair mechanism.

Our utrophin modulation approach aims to use small molecule drugs to maintain the production of utrophin to compensate for the absence of dystrophin in DMD patients and so protect healthy muscle function.  A significant advantage of utrophin modulation is that it is independent of the underlying genetic fault and therefore has the potential to treat 100% of DMD patients.  We also believe it could be complementary to other DMD treatment approaches.

The concept of utilising utrophin as a treatment for DMD was developed by our co-founder and scientific advisor Professor Kay Davies at the University of Oxford."



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Researchers generate mature, functional skeletal muscles using new approach

Researchers generate mature, functional skeletal muscles using new approach: "A team of researchers from Italy, Israel and the United Kingdom has succeeded in generating mature, functional skeletal muscles in mice using a new approach for tissue engineering. The scientists grew a leg muscle starting from engineered cells cultured in a dish to produce a graft. The subsequent graft was implanted close to a normal, contracting skeletal muscle where the new muscle was nurtured and grown. In time, the method could allow for patient-specific treatments for a large number of muscle disorders. The results are published in EMBO Molecular Medicine."



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» Eplerenone improves cardiac function in Duchenne patients Action Duchenne

» Eplerenone improves cardiac function in Duchenne patients Action Duchenne: "A recent study showed that a specific cardiac drug is able to induce cardiac function improvement in boys with muscular dystrophy and cardiomyopathy. The study is entitled “Eplerenone for early cardiomyopathy in Duchenne muscular dystrophy: a randomized, double-blind, placebo-controlled trial.”

“With increasing recognition of the effect of cardiomyopathy on morbidity and mortality in Duchenne muscular dystrophy, improved strategies are needed to change the natural history of declining left ventricular systolic function and to attenuate its sequelae,” wrote the research team.

Eplerenone is a cardiac medication, used alone or in combination with other drugs to treat high blood pressure. In this study, the authors evaluated the efficacy of eplerenone in patients suffering from DMD and early myocardial disease.Interestingly, in patients taking eplerenone, a significant decrease in the decline in cardiac function was only observed after at least 6 months of therapy.

“Our findings suggest that early treatment with eplerenone attenuates decline in cardiac function, which is a leading cause of death in Duchenne muscular dystrophy,” wrote the research team."



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Parent Project Muscular Dystrophy Awards UCLA $50,000 Exploratory Grant for Evaluation of Exon Skipping Enhancers in Duchenne - PPMD Community

Parent Project Muscular Dystrophy Awards UCLA $50,000 Exploratory Grant for Evaluation of Exon Skipping Enhancers in Duchenne - PPMD Community: "PPMD announced today that they will award Dr. M. Carrie Miceli and her team at UCLA’s David Geffen School of Medicine and College of Letters and Science, a $50,000 exploratory grant to continue their evaluation of exon skipping boosters for the treatment of Duchenne. 
 
Duchenne muscular dystrophy is the most common fatal genetic disorder diagnosed in childhood, affecting approximately one in every 3,500 to 5,000 live male births. The loss of a key muscle protein called dystrophin causes muscle wasting and weakness, eventually leading to the loss of ambulation, difficulty breathing, and heart failure.  Death typically occurs in the mid-to late 20s.
 
Duchenne is often caused by frame-shifting mutations that abolish dystrophin expression that can be repaired by antisense oligonucleotide (AON) directed “exon skipping.” Ongoing clinical trials of exon 51 AON demonstrate dystrophin rescue and slowing of disease progression. Adding a targeted small molecule drug, in combination with the AON, may be a means of increasing skipped dystrophin levels and thereby increasing the effectiveness of treatment with AON alone. Dr. Miceli and her team at UCLA have identified drugs that boost AON-directed exon 51 skipping, which impinge on a common pathway. This has led her to predict that second-generation drugs may have even greater skip boosting activity. This grant will allow Dr. Miceli to continue exploring therapies that will promote skipping alone or in combination with AON directed against exon 51 or other exons currently in the clinical pipeline."



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» Tricyclo-DNA for Duchenne Action Duchenne

» Tricyclo-DNA for Duchenne Action Duchenne: "Recently, researchers from Bern developed an active substance, which together with an international team they tested successfully. This promising therapy approach is to correct the defect in the production of dystrophin with short segments of a chemically modified DNA, so-called antisense oligonucleotides (AO). A significant curative effect with the tested active substances had not been achieved until now. That is because the corresponding active substances are not yet active enough and do not reach vital muscles such as the heart.

 

Experiments in mice show evidence that the agent leads to an improved dystrophin production in all muscles including the heart and the lungs and subsequently leads to an improved mobility and an increased life expectancy in mice.

 

Surprisingly it was also observed that the dystrophin production in the brain was corrected as well. It was thus shown for the first time that an oligonucleotide can pass the blood-brain barrier and become active there.

 

The next step of the clinical trial is to test tricyclo-DNA in humans. The trial is coordinated by the spin-off enterprise Synthena AG of the University of Bern founded in 2012. The enterprise manufactures tricyclo-DNA and advances the development of a medication for Duchenne patients.

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» Cardiac drugs show cardioprotective benefit in boys with Duchenne Action Duchenne

» Cardiac drugs show cardioprotective benefit in boys with Duchenne Action Duchenne: "“Our findings suggest that early treatment with eplerenone attenuates decline in cardiac function, which is a leading cause of death in Duchenne muscular dystrophy,” the researchers wrote. “Although the fundamental goal of this study was to test the use of early intervention with available drugs in a disorder in which patients are likely to have progressive cardiomyopathy, the need for long-term clinical follow-up is apparent when recognizing that hard events, such as cardiac failure and death, are unlikely to occur for many more years.”"



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Important Vaccinations Recommendations - PPMD Community

Important Vaccinations Recommendations - PPMD Community: "Vaccinations are very, very important to protect us against infection and disease – but they are also very, very confusing. 
Some vaccines are “live,” some are “attenuated (killed),” some protect against viral infections, some protect against bacterial infections, some are given only in childhood, some need a “booster” later in life, some are only given later in life…. Adding Duchenne – medications, pulmonary, and cardiac function – to the picture adds even more confusion.
 
In order to answer the regularly asked questions, “to give or not to give, when to give, how to give and what to give,” we have teamed up with the Center for Duchenne Muscular Dystrophy (CDMD) at UCLA to provide the following recommendations. A huge “thank you!” to Drs. Stan Nelson, Paul Krogstad, and Carrie Miceli, (UCLA) for their contributions in developing this document. 
 "



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