Immune system plays important role in Duchenne muscular dystrophy, research reveals

Immune system plays important role in Duchenne muscular dystrophy, research reveals: "A new paper, co-written by faculty at Binghamton University, State University of New York, increases the understanding of Duchenne muscular dystrophy (DMD)—one of the most common lethal genetic disorders—and points to potential therapeutic approaches.

"The findings suggest that the immune system has an important role in the muscle disease of Duchenne muscular dystrophy," said Eric Hoffman, professor of pharmaceutical sciences and associate dean for research at Binghamton University's School of Pharmacy and Pharmaceutical Sciences."

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» GTx exploring product candidate as potential Duchenne treatment Action Duchenne

» GTx exploring product candidate as potential Duchenne treatment Action Duchenne: "GTx is exploring SARM, their lead product candidate, a selective androgen receptor modulator as potential treatment for Duchenne muscular dystrophy. 

Preclinical studies have confirmed the beneficial effects from SARMs in mice genetically altered to simulate Duchenne muscular dystrophy, compared to control groups. The Company continues to pursue a potential strategic collaboration with biopharma companies experienced in orphan drug development."

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Sarepta Therapeutics Inc. (SRPT) -Summit Therapeutics PLC (ADR) (SMMT) Deal Is "Low Risk, High Reward": Wedbush

Sarepta Therapeutics Inc. (SRPT) -Summit Therapeutics PLC (ADR) (SMMT) Deal Is "Low Risk, High Reward": Wedbush: "Sarepta Therapeutics Inc. (NASDAQ:SRPT) announced on Tuesday, a partnership deal with London-based Summit Therapeutics PLC (ADR) (NASDAQ:SMMT), for the development of drugs to treat Duchenne muscular dystrophy. As part of the deal, Sarepta will use its expertise to help develop Summit’s utrophin modulator pipeline and its key experimental DMD drug ezutromid in exchange for its European rights and a Latin America option. "



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PPMD Awards The Ohio State University Grant to Support Cardiomyopathy Therapy for Duchenne - PPMD Community

PPMD Awards The Ohio State University Grant to Support Cardiomyopathy Therapy for Duchenne - PPMD Community: "Parent Project Muscular Dystrophy (PPMD) announced today plans to award Dr. Denis Guttridge of The Ohio State University with a $48,000 grant for his work in cardiac issues in Duchenne. Duchenne affects muscles, and since the heart is a muscle too, cardiac problems remain a major concern for patients. PPMD has spent the last several years supporting efforts to improve cardiac care and believe in the promising work Dr. Guttridge and his team at Ohio State are doing.
 
Duchenne muscular dystrophy is the most common fatal genetic disorder diagnosed in childhood, affecting approximately one in every 5,000 live male births. Almost all Duchenne patients develop heart problems. In order to treat the disease, new drugs will have to work by fixing both skeletal and heart muscles. In contrast to Duchenne skeletal muscles, very little is known about a dystrophic heart."



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PPMD Awards The Ohio State University Grant to Support Cardiomyopathy Therapy for Duchenne - PPMD Community

PPMD Awards The Ohio State University Grant to Support Cardiomyopathy Therapy for Duchenne - PPMD Community: "Parent Project Muscular Dystrophy (PPMD) announced today plans to award Dr. Denis Guttridge of The Ohio State University with a $48,000 grant for his work in cardiac issues in Duchenne. Duchenne affects muscles, and since the heart is a muscle too, cardiac problems remain a major concern for patients. PPMD has spent the last several years supporting efforts to improve cardiac care and believe in the promising work Dr. Guttridge and his team at Ohio State are doing.
 
Duchenne muscular dystrophy is the most common fatal genetic disorder diagnosed in childhood, affecting approximately one in every 5,000 live male births. Almost all Duchenne patients develop heart problems. In order to treat the disease, new drugs will have to work by fixing both skeletal and heart muscles. In contrast to Duchenne skeletal muscles, very little is known about a dystrophic heart."



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LIF-treated muscle stem cells show promise in treatment of muscular dystrophy

LIF-treated muscle stem cells show promise in treatment of muscular dystrophy: "Satellite cells are stem cells found in skeletal muscles. While transplantation of such muscle stem cells can be a potent therapy for degenerative muscle diseases such as Duchenne muscular dystrophy, these cells tend to lose their transplantation efficiency when cultured in vitro. In a study in the current issue of the Journal of Neuromuscular Diseases, researchers treated these stem cells with leukemia inhibitory factor (LIF), which effectively maintained the undifferentiated state of the satellite cells and enhanced their transplantation efficiency.

To have enough cells for transplantation, they must be grown in vitro and prevented from differentiating before transplantation. Several growth factors, cytokines, and chemicals have been used in muscle stem cell cultures, but the optimal culture conditions required to maintain the undifferentiated state, inhibit differentiation, and enhance eventual transplantation efficiency have not yet been established."



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New Duchenne muscular dystrophy treatment 'ready in five years' - BBC News

New Duchenne muscular dystrophy treatment 'ready in five years' - BBC News: "A new treatment for a rare muscle wasting disease could be available within five years, an Oxford University researcher has said.
Duchenne muscular dystrophy (DMD) affects about 2,500 boys and men in the UK, leaving them unable to move.
Professor Kay Davies said trials of a drug to increase levels of the protein utrophin, to maintain the muscles, would start later this year.
She told Oxfordshire Science Festival it could help sufferers worldwide.
"Duchenne is horrible for these boys. They normally get diagnosed at the age of four of five, and they suffer from a progressive muscle wastage which leaves them in a wheelchair by the age of 12," she said.
"Somewhere in the next five years, we will be able to do something for these boys, to stop them from going into a wheelchair, and perhaps prolong their life and improve their quality of life."
"



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First Patient Enrolled in Summit’s PhaseOut DMD, a Phase 2 Clinical Trial of Ezutromid in Boys With DMD Nasdaq:SMMT

First Patient Enrolled in Summit’s PhaseOut DMD, a Phase 2 Clinical Trial of Ezutromid in Boys With DMD Nasdaq:SMMT: "OXFORD, United Kingdom, June 17, 2016 (GLOBE NEWSWIRE) -- Summit Therapeutics plc (NASDAQ:SMMT) (AIM:SUMM), the drug discovery and development company advancing therapies for Duchenne muscular dystrophy (‘DMD’) and Clostridium difficile infection, today announces that it has enrolled the first patient in PhaseOut DMD, a Phase 2 proof of concept clinical trial of ezutromid (formerly SMT C1100) in patients with DMD. Ezutromid dosing is expected to follow a screening period of up to 28 days.

Ezutromid is an orally administered small molecule that is designed to modulate utrophin, a protein that is structurally and functionally similar to the dystrophin protein. Dystrophin is essential for the healthy function of all muscles but is missing in patients with DMD. Utrophin modulation is a potential disease-modifying approach that could treat all boys and young men with DMD, regardless of their underlying dystrophin gene mutation."



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Enzyme protein neutrophil elastase may be key contributor to development of muscular dystrophy

Enzyme protein neutrophil elastase may be key contributor to development of muscular dystrophy: "Scientists at the University of Liverpool have discovered that muscle cells affected by muscular dystrophy contain high levels of an enzyme that impairs muscle repair. This finding provides a new target for potential drug treatments for the disease, which currently has no cure.

Muscular dystrophy (MD) is an inherited genetic condition that gradually causes a weakening of muscles. Duchenne muscular dystrophy (DMD) is the most common, and one of the most severe types, of the disease. There are around 2,500 people in the UK living with DMD, which usually affects boys in early childhood and leads to progressively worsening disability and premature death.

In DMD, the stem cells that normally repair damaged muscle are impaired, for reasons that remain unclear. In this new study, published in Scientific Reports, researchers looked at the molecular composition of the environment within which these muscle stem cells are found, to investigate whether this could be responsible for impaired function."



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Removing immunomodulatory protein improves symptoms of muscular dystrophy in mice

Removing immunomodulatory protein improves symptoms of muscular dystrophy in mice: "Removing an immunomodulatory protein called osteopontin improves the symptoms of mice with muscular dystrophy by changing the type of macrophages acting on damaged muscle tissue, according to a paper published in The Journal of Cell Biology. The study, "Osteopontin ablation ameliorates muscular dystrophy by shifting macrophages to a pro-regenerative phenotype" by Joana Capote and colleagues, adds support to the idea that osteopontin inhibitors could be used to treat patients with Duchenne muscular dystrophy (DMD).

DMD is a progressive, and ultimately fa"



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» Summit Reports Positive Interim Data from Phase 1 Testing a New Formulation of SMT C1100 in DMD Patients Action Duchenne

» Summit Reports Positive Interim Data from Phase 1 Testing a New Formulation of SMT C1100 in DMD Patients Action Duchenne: "Today, we announced preliminary interim results from an ongoing Phase 1 trial of a new formulation of SMT C1100. As you’ll see in the release pasted below, we just announced data from the first dose in patients (with up to 3 doses planned) and from healthy volunteers. The data are encouraging and the trial is proceeding to the next dose in patients. This new formulation Phase 1 trial is a separate trial to the Phase 2 PhaseOut DMD trial that we’ve been discussing recently. Some questions that you may have:"



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New Biomarkers for Utrophin Protein Levels Likely to Aid DMD Therapy Now in Clinical Testing - Muscular Dystrophy News

New Biomarkers for Utrophin Protein Levels Likely to Aid DMD Therapy Now in Clinical Testing - Muscular Dystrophy News: "Summit Therapeutics plc announced the publication of a study into new imaging techniques that appear to reliably and reproducibly measure utrophin protein levels and muscle fiber regeneration in muscle biopsies in Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) patients.

The study is important to the company because one of its lead products, now in clinical testing, is SMT C1100, a small molecule utrophin modulator that has been shown in a mice model of DMD to increase utrophin in skeletal and diaphragm muscle, leading to a significant decrease in disease pathology and an improved functional benefit. Utrophin up-regulation is considered a possible therapeutic option for all DMD patients, regardless of their underlying dystrophin mutation."



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Summit Therapeutics Supports Ninth Annual Rare Disease Day - NASDAQ.com

Summit Therapeutics Supports Ninth Annual Rare Disease Day - NASDAQ.com: "OXFORD, UK, Feb. 29, 2016 (GLOBE NEWSWIRE) -- Summit Therapeutics plc (NASDAQ:SMMT) (LSE:SUMM), the drug discovery and development company advancing therapies for Duchenne muscular dystrophy (‘DMD') and Clostridium difficile infection, announces today its support for the ninth annual Rare Disease Day on 29 February 2016. The Rare Disease Day 2016 theme, Patient Voice, recognises the crucial role that patients play in voicing their needs and in initiating change that improves their lives and the lives of their families and carers.


"On this ninth annual Rare Disease Day, we at Summit take this opportunity to pay tribute to all patients and their families living with rare diseases," commented Glyn Edwards, Chief Executive Officer of Summit Therapeutics.  "The patient and parent voice is playing a vital role in the development of our utrophin modulator therapies that offer the potential to treat all boys and men living with the rare disease, DMD, and Summit has an unwavering commitment towards bringing hope for all those affected by this disease.""



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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.