Category Archives: Muscular Dystrophy Treatment

Duchenne muscular dystrophy (DMD) is the most common and, sadly, the most severe form of the debilitating genetic disorder. Now researchers have used a new gene therapy technique to restore muscle strength and stabilize the symptoms of the disorder in dogs, in an important step that could one day lead to the treatment being applied to children. Affecting one in 5,000 boys (but very rarely occurring in girls), DMD usually begins to show itself around the age of three to five, and progresses quickly from there. It disrupts dystrophin, a protein that's responsible for maintaining muscle integrity and strength. As a result, DMD causes the muscles to weaken and waste away, often rendering a patient unable to walk by age 12 and unlikely to live beyond their mid-20s. UPGRADE TO NEW ATLAS PLUS More than 1,500 New Atlas Plus subscribers directly support our journalism, and get access to our premium ad-free site and email newsletter. Join them for just US$19 a year. To combat genetic disorders, researchers often insert a healthy copy of the affected gene into a viral vector essentially, a harmless shell of a virus that carries the material into cells. Unfortunately, that tactic doesn't work with DMD: … Continue reading →

The City of Myrtle Beach Fire Departmentis showing its support for the Muscular Dystrophy Association (MDA) as its members kick off the annual Fill the Boot fundraising campaign to help kids and adults with muscular dystrophy, ALS and related muscle-debilitating diseases live longer and grow stronger. Continuing a more than 60 year tradition, dedicated fire fighters from the Carolina Beach Fire Departmentwill hit the streets or storefronts with boots in hand asking pedestrians, motorists, customers and other passersby to make a donation to MDA from August 4th-6thin front of the Lowes Food on 970 Cipriana Dr. from 11 AM-5 PM, Walmart Neighborhood Markets located on Seaboard Street and 3915 N Kings Hwy and in front of the Coastal Grand mall entrances from 10 AM-4 PM.We are thrilled to be working with the Myrtle Beach Fire Department another year of Fill the Boot to help provide the funds needed to find treatments and cures for muscular dystrophy, ALS and related diseases that severely limit strength and mobility, said Fundraising Coordinator Angelica Hickey. The dedication of these fire fighters to MDAs mission is unwavering, spending countless hours both with Fill the Boot and MDA Summer Camp to care for the kids and … Continue reading →

The effects of a debilitating illness such as muscular dystrophy are inevitable, especially when the disease is incurable, as is the case with Duchenne muscular dystrophy. Some treatments can help to manage the condition, but this muscle-wasting disease wreaks havoc on the human body, leaving it weak and incapable of performing basic functions as the condition worsens. The possibility of stopping the effects has been explored, but being able to reverse the condition and restore strength to the muscles has always been deemed somewhat of an impossibility. However, a new hope arises in the form of gene editing. In canine trials, muscular dystrophy was completely cured and reversed, allowing the dogs to go symptom-free for the entirety of the study. In a report published in Nature Communications, a team of international researchers explored the possibility of gene therapy in dogs to reverse and ultimately cure Duchenne muscular dystrophy. The group of scientists, including Geneticist Darren Griffin of the University of Kent, used just a single injection in their study, finding an extraordinary new gene therapy. This new type of therapy targets the dystrophin gene, injecting it with microdystrophin, a compressed version of the gene itself. The dystrophin gene is relatively … Continue reading →

The Coast to Coast for FHSD bike ride featuring cyclists from St. Josephs College Brooklyn, Clinton Hill, and St. Stanislaus Kostka, Greenpoint, stops near the Gateway Arch in St. Louis, Miss., en route to a July 19 finish in Brooklyn (Photo courtesy Chris Carrino Foundation). According to Google Maps, it would take 40 hours to drive from the iconic Space Needle in Seattle to the heart of Downtown Brooklyn. But why bother driving when you could ride a bike? Thats the mindset of a group of cyclists supporting the Chris Carrino Foundation for FSHD (Facioscapulohumeral Muscular Dystrophy). The Coast to Coast for FSHD ride is a 54-day, 4,200-mile journey that covers 46 cities and 15 states. It is set to wrap up July 19, when the cyclists cross the Brooklyn Bridge and ride the final stretch to Barclays Center. The cross-country ride twice as long as the ongoing Tour de France is helping to raise awareness and funds to battle FSHD, the most common form of muscular dystrophy that has no known treatment or cure. Carrino is a well-known sportscaster who recently completed his 16th season as the radio voice of the Brooklyn Nets. He was diagnosed with FSHD after … Continue reading →

"We are pleased the FDA has granted orphan drug status to MNK-1411 for potential treatment of DMD, a serious disease for which there are limited treatment options," said Steven Romano, M.D., Executive Vice President and Chief Scientific Officer. "Mallinckrodt believes MNK-1411 may have potential to offer physicians and patients a new treatment alternative, and this designation is an important step forward for the development program. We continue to advance our broad clinical and regulatory strategy in areas of high unmet medical need." The FDA's Orphan Drug Designation program provides orphan status to drugs and biologics that are defined as those intended for the safe and effective treatment, diagnosis or prevention of rare diseases or disorders that affect fewer than 200,000 people in the U.S., or that affect more than 200,000 persons but are not expected to recover the costs of developing and marketing a treatment drug. The designation provides Mallinckrodt marketing exclusivity in the U.S. for DMD for a seven-year period following FDA approval, as well as the ability to apply for research funding, tax credits related to certain research costs, and a waiver of the FDA application user fee. Mallinckrodt has completed a Phase 1 study for MNK-1411 in … Continue reading →

Sometimes it pays to look a gift horse in the mouth. For example, take the FDA's rare course reversal on Tuesday: It let AmicusTherapeutics Inc. seek accelerated approval for rare-disease drug Galafold, after last year saying the biopharma firm would need more data before seeking approval. Amicus shares jumped nearly 26percent on the news, which could be a positive sign for other drugmakers dealing with tricky FDA issues. They may have reason to hope the agency will be more flexible, as new commissioner Scott Gottlieb has vowed. But it's hard to tell how far that flexibility will extend -- and whether it really is the boon it seems. About Face The FDA changed its mind about one of Amicus Therapeutics' drugs, and the firm saw its biggest share price jump in more than 20 years Source: Bloomberg The FDA's decision is clearly big news for Amicus. Galafold, which treats Fabry disease, is already approved in Europe. But it faced a potentially multi-year path to the much more lucrative U.S. market. The medicine could now U.S. see approval in2018, which should substantially boost sales expectations that took a hit after the previously announced delay. Down on the Upside Galafold sales estimates … Continue reading →

Magnified sickle cells.Photograph by Media for Medical UIG via Getty Images News that the Food and Drug Administration (FDA) approved the first new drug to treat sickle cell in nearly 20 years last Friday understandably drew cheers from patients and advocates who have stood by with bated breath for a breakthrough. But as laudable as the milestone may be, the treatment's limited reach underscores just how hard it is to create groundbreaking medicines which do little more than staunch certain symptoms. The FDA's latest approval is for Endari, a drug created by the under-the-radar biotech Emmaus Medical Inc. As the agency itself notes, Endari is no cure. Rather, it's approved to "reduce severe complications associated with the blood disorder," such as extreme side effects in the lungs and major pain. The drug also cut down patients' needs to go to a hospital for sickle-cell related pain compared with placebo in clinical trials. Click here to subscribe to Brainstorm Health Daily, our brand new newsletter about health innovations. This is all welcome news for people who suffer from the genetic blood disorder, whose various forms afflict some 100,000 Americans at any given time, according to the National Institutes of Health. But … Continue reading →

What happened Shares of PTC Therapeutics, Inc. (NASDAQ: PTCT), a biotech focused on RNA-based therapies, surged 45.2% higher in June, according to data from S&P Global Market Intelligence. Investors took the Food and Drug Administration's (FDA) decision to grant the company's muscular dystrophy candidate Translarna an independent advisory-committee review as a good sign. Normally, an advisory-committee meeting is bad news because it means the FDA wants second opinions before issuing a decision about whether or not to approve a new drug candidate. However, this isn't Translarna's first rodeo. Image source: Getty Images. In February 2016, the FDA told PTC Therapeutics that its new drug application for Translarna was not sufficiently complete to permit a review. The experimental therapy is supposed to reduce the effect of nonsense mutations that lead to a lack of functional dystrophin, a crucial muscle-membrane protein, which, in turn, causes irreversible muscle damage. The FDA cited a lack of evidence proving Translarna works because PTC Therapeutics failed to prove a statistically significant benefit during clinical trials supporting the application. In theory, Translarna's nonsense-mutation-alleviating mechanism could play a role in other genetic diseases. Unfortunately, a failure to provide a significant benefit over a placebo among cystic fibrosis patients … Continue reading →

Experts provided an overview of the many approaches to counteract the loss of muscle mass, inflammation, fibrosis, calcium overload, oxidative stress, and ischemia (inadequate blood supply) in Duchenne muscular dystrophy (DMD), without actually targeting the cause, a mutation in the dystrophin gene. The review, Pharmacological therapeutics targeting the secondary defects and downstream pathology of Duchenne muscular dystrophy, was published in the journalExpert Opinion on Orphan Drugs. The review notes that the corticosteroids prednisone and prednisolone, often used to treat DMD, have unwanted side effects, while deflazacort,approved this year bythe U.S. Food and Drug Administration (FDA) for DMD patients older than 5, has shown to cause less weight gain than the otherdrugs. NF-kB, a naturally occurring protein thought to aggravate DMD symptoms, is the target of several drugs now under study. NEMO binding domain (NBD), a substance that has been shown to decrease necrosis and increase regeneration in hind limb and diaphragm muscles in a mouse model of muscular dystrophy, is being tested for toxicity in non-human primates. Phase 1 trials in healthy adults reported that Catabasis CAT-1004, another NF-kB inhibitor, proved to be safe and well-tolerated. Myostatin, a hormone that slows muscle growth, is the target of two therapies currently … Continue reading →

End-stage heart failure is increasingly becoming the main cause of death in patients with Duchenne muscular dystrophy (DMD). Because cardiomyopathy, an abnormal heart condition, is difficult to detect, a study examined current diagnostic methods, treatment options, and potential future therapies for heart failure among patients with DMD, the most common type of muscular dystrophy. The study, A current approach to heart failure in Duchenne muscular dystrophy, appeared in the journalHeart. Domenico DAmario, from the Catholic University of the Sacred Hearts Institute of Cardiology, in Rome, Italy, led the research. DMD is caused by genetic mutations that result in the absence of a protein called dystrophin. DMD also affects cell biology in the heart tissue and causes an increase in intracellular calcium levels, which leads to the degradation of contractile proteins and promotes cellular death and fibrosis, or tissue scarring. DMD impairs the ability to walk, decreases respiratory function, and ultimately, leads to heart failure in the third or fourth decade of life. Although the frequency and severity of cardiovascular complications in DMD patients depend on the specific mutation in the DMD gene and may vary within the same mutation, progressive changes in heart functioning typically include arrhythmias, congestive heart failure, … Continue reading →