Category Archives: Muscular Dystrophy Treatment

The first patient has been dosed in a Phase 2 clinical trial of ACE-083as a treatment for the muscle impairment inCharcot-Marie-Tooth disease, according to the therapys developer,Acceleron Pharma. Acceleron is already evaluating ACE-083 in another Phase 2 trial this one as a treatment forfacioscapulohumeral muscular dystrophy. People diagnosed with CMT currently have no drug therapy options to address the major consequences of their disease, such as impaired walking and falls due to progressive muscle weakness in the lower leg, Dr. Colin Quinn, the new Phase 2 trials principal investigator,said in a press release. He is anassistant professor of clinical neurology at the University of Pennsylvanias Perelman School of Medicine. ACE-083 has the potential to increase muscle growth and strength in the lower leg muscles we are targeting, and could improve patients ability to walk, Quinn said. The therapy inhibits agents that impair muscle growth and strength. Acceleron is developing it for muscular dystrophies with what scientists call focal muscle loss. That kind of loss occurs in a muscle or group of muscles in a specific part of the body. A Phase 1 clinical trial (NCT02257489) showed that injecting ACE-083 into the legs of healthy volunteers increased their muscle volume. Researchers … Continue reading →

Researchers at Cardiff University and Cardiff and Vale University Health Board have developed a more reliable method of screening for Duchenne muscular dystrophy (DMD) in newborn babies. In collaboration with biotechnology company PerkinElmer, they have developed a diagnostic kit that can accurately screen for the disorder by analysing neonatal dried blood spots. Professor Ian Weeks, Dean of Clinical Innovation and Head of Cardiff University's School of Medicine, said: "The successful outcome of this study is an example of the impact that can be achieved through collaboration between academic, clinical and industry colleagues in developing improvements in human healthcare." The new method screens for DMD by detecting an enzyme that is released into the blood when muscle fibres are damaged from the condition. Previous tests of this type were less accurate as they also detected the activity of other forms of this enzyme, two of which are also produced in high levels due to muscle trauma-related injuries, which can lead to false results during screening. Dr Stuart J. Moat, Consultant Clinical Biochemist and Director of the Wales Newborn Screening Laboratory at the University Hospital of Wales, said: "We found that CK-MM can be reliably quantified in blood spots and believe that … Continue reading →

When it comes to CRISPR, our society has some important decisions to make. Just last week, scientists reported a new first in the journal Nature: They edited heritable cells in human embryos to treat an inherited form of heart disease. The day after the research was published, a group of genetics experts published a statement calling for further debate before applications of the technology are taken any further in humans. According to a new survey of 1,600 adults published in the journal Science today, much of the American public shares this desire for engagement in decision-making. Led by Dietram Scheufele, a professor of science communication at the University of Wisconsin - Madison, the study found that while support for gene editing applications varies, a majority of respondents think the public should be consulted before genome editing is used in humans. Gene editing presents the potential for remarkable benefits. The potential to cure genetic disease and to ensure the safety of the world's food supply in the face of climate change are perhaps the most exciting opportunities, said Jennifer Doudna, a chemist at UC Berkeley who was an early pioneer of the powerful gene-editing technique CRISPR-Cas9 and was not involved in … Continue reading →

Researchers from the University of California, San Diego have used a new version of the gene editing technology CRISPR to fix problems in RNA, rather than to change DNA, a promising step for a group of diseases, including Huntingtons and amyotrophic lateral sclerosis, that have no cure. CRISPR uses the Cas9 enzyme and a "guide" RNA to snip out mutations in DNA, but until recently, it has not been used to target RNA. After using the method to track RNA in live cells last year, the UC San Diego team is now correcting mistakes in RNA that lead to microsatellite repeat expansion diseases. In these disorders, too many repeats in RNA sequences causes RNA to clump together in cells, preventing them from producing essential proteins. The team tested their RNA-targeted Cas9 (RCas9) system on laboratory modelsand found that the method cleared 95% or more of the RNA clumpscalled focirelated to myotonic dystrophy, one type of ALS and Huntington's disease. It also eliminated 95% of errant repeat RNAs in cells taken from patients with myotonic dystrophy. The findings are published in Cell. "We are really excited about this work because we not only defined a new potential therapeutic mechanism for CRISPR-Cas9, … Continue reading →

The McLinn family of Indianapolis is still fighting for their seven-year-old son, Jordan, who was diagnosed at the age of 3 with Duchenne muscular dystrophy. This is an aggressive disease that results in muscle weakness and loss first attacking the extremities, eventually moving to the heart and other internal organs. There is no known cure, yet, but there are treatments that can help manage symptoms and slow progression of the disease. For people like Jordan McLinn, failure or needless delay of the Food and Drug Administration to grant a compassionate use request (also known as expanded access) can mean the difference between walking or being wheelchair-bound. Currently, the FDA has the authority to not approve access to potentially life-saving medicine based on the agency's criteria meaning, the FDA must determine that "the potential patient benefit justifies the potential risks of the treatment use and those potential risks are not unreasonable in the context of the disease or condition to be treated." In a country that prides itself on upholding individual liberties, it's contradictory that the government reserves the right to grant or deny individuals who are fighting for their lives access to potentially life-saving medicine simply based on the agency's … Continue reading →

CAMBRIDGE, Mass.--(BUSINESS WIRE)--Mitobridge, Inc., a pioneer in the discovery and development of products that improve mitochondrial function, today announces a key milestone with the initiation of the first-in-human Phase I trial of its PPAR-delta (PPAR) modulator, MA-0211 (also known as MTB-1). The study will assess the safety, tolerability, pharmacokinetics and pharmacodynamics of MA-0211 in healthy volunteers, which will provide the basis for a trial program in Duchenne Muscular Dystrophy (DMD) patients. MA-0211 is the first clinical compound to emerge from Mitobridges mitochondrial enhancement platform. The PPAR modulator aims to reverse the mitochondrial deficits in DMD, which play a key role in disease progression. DMD is a rare genetic disease caused by loss-of-function mutations in the dystrophin gene. This debilitating fatal disorder affects males and leads to progressive cardiac, skeletal and smooth muscle weakness and eventual loss of muscle mass. Mitobridges research has confirmed and expanded upon previous studies showing that mitochondrial defects contribute to abnormalities in the dystrophic muscle and play a central role in the etiology of DMD. PPAR modulation represents a promising therapeutic approach to improving mitochondrial function and muscle health in DMD patients, stated Mike Patane, CSO of Mitobridge. This milestone with our lead program further validates … Continue reading →

People are always surprised at how faithful my family is. They think that because of my illness we would automatically throwour faith out the window, or that we would blame God for our circumstances. Its quite the opposite actually. Growing up, I wouldnt exactly say we were a family of devout Christians. I knew why we celebrated Christmas, we went to church as often as possible, and I even went to a Christian pre-school. But that was about it. I dont remember learning anything in Sunday school. As I became ill my parents would have to piggyback me upstairs, which was where the Sunday school classroom was. There were no elevators. It was a very impractical situation, so we stopped going. Fast forward a few years and we found ourselves at a new church that some friends attended. Its now our home church. You could say it was a match made in heaven. Every time we went to church I would follow the other kids to Sunday school. Later, I realized I wasnt learning anything worthwhile. I didnt want to learn the specifics of every story in the Bible, or to go over everything, chapter by chapter, verse by verse. … Continue reading →

In Duchenne muscular dystrophy one name has received nearly all the attention: Sarepta Therapeutics (OTCPK:SPHDF), which persuaded the US FDA to approve its Exondys 51 over objections that its supporting data were inadequate. Switzerland's Santhera Pharmaceuticals believes that its entry, Raxone, ought to be receiving at least as much attention. Raxone's Delos clinical trial is "still the only successful phase III trial in Duchene muscular dystrophy", its chief executive, Thomas Meier, notes. So far, it has not resulted in a broad launch, but this could change very soon with an EU advisory committee decision due later this year. This is a bold statement, to be sure, but Mr. Meier follows it up with ambitious commercial plans. "We have taken a position that we are not interested in licensing. We would like to keep the rights," he says, pointing to the example of its fellow Swiss group Actelion as a "prominent success case next door" for going it alone in speciality medicine. Beyond that they are both hoping to enter Duchenne muscular dystrophy (DMD) in quick succession, there are few comparisons between Raxone and Exondys, and they will not compete. The latter seeks to delay the disability requiring the use of … Continue reading →

Elena Silva gripped her cellphone, struggling to convey a sense of urgency to her husband, Brian Woodward, whose response was drowned out by the background din of a suburban Maryland swimming pool on a steamy July afternoon. You have to bring the kids here right now, Silva remembers insisting. She believed that the couples long-running quest for a diagnosis of their daughter Gabriela, known as Gg (pronounced Gigi), then 7, hinged on the little girls presence. Woodward had taken Gg and her older brother Elian to the pool while Silva, hoping to meet researchers and network with knowledgeable parents, was attending a 2014 meeting at the Clinical Center, the research hospital on the grounds of the National Institutes of Health, a few miles from the familys home. Once a year, specialized neurology researchers and families affected by a constellation of rare neuromuscular disorders get together, a confab that is both supportive and aimed at furthering research. Silva, who had learned of the event only that morning, was mingling with participants when a parent-advocate asked, Wheres your daughter? Why isnt she here? When Silva replied that Gg was at the pool, the woman advised Silva to get the little girl to … Continue reading →

Shares of FibroGen are soaring more than 45 percent in midday trading Tuesday after the biotech reported positive study results for a potential blockbuster drug. The biotech company's drug pamrevlumab, a treatment for fatal lung disease idiopathic pulmonary fibrosis, successfully completed a mid-stage FDA test. "Significant value creation should occur now," Jefferies analyst Michael Yee wrote in a note after the results. The analyst believes the drug should add $3 to $4 billion to FibroGen's market cap eventually or $35 to $50 to its share price. The stock surged as much as 52 percent, or $17.45 a share, to $50.80 in early trading Tuesday. It is on pace for the best daily performance ever since it began trading publicly in November 2014. The stock traded more than twelve times its 30-day average volume, with nearly 5 million shares changing hands on Tuesday. While phase 2 testing for idiopathic pulmonary fibrosis is complete, FibroGen announced it will continue phase 2 testing of pamrevlumab as a treatment for both pancreatic cancer and Duchenne muscular dystrophy. Idiopathic pulmonary fibrosis is a disease which scars lung tissue, leading to organ dysfunction and eventual failure within a few years of diagnosis. FibroGen said in its … Continue reading →