Breakthroughs in Stem Cell Research: How Mesenchymal Stem Cells (MSCs) Combat Duchenne Muscular Dystrophy

From Investors.com Sarepta stock crashed Tuesday after a patient who received its approved gene therapy, Elevidys, died due to acute liver failure. Elevidys treats Duchenne muscular dystrophy, a devastating disorder that causes progressive muscle deterioration. According to Sarepta Therapeutics ( SRPT ), the patient developed acute liver failure following treatment with Elevidys. He also had a recent cytomegalovirus infection, or CMV, which could have been a contributing factor. CMV can injure the liver. This is the "event people had feared," said RBC Capital Markets analyst Brian Abrahams. But it "shouldn't spell the end for Elevidys." "The news is certainly not good, but given the known liver toxicities associated with Elevidys and all gene therapies, the fragile nature of the patients with this deadly illness being treated and the growing use of the agent, it is perhaps not altogether surprising that a fatal (adverse event) could potentially be observed occasionally," he said in a note. Still on today's stock market , Sarepta stock toppled 27.4%, closing at 73.54. 'Very Unique' Case Sarepta didn't provide any identifying characteristics about the patient other than to describe him as a "young man." William Blair analyst Sami Corwin said the patient was a 16-year-old boy. Analysts noted older and non-ambulatory patients would typically weigh more and require a larger dose of Elevidys. Further, older patients have a higher morbidity, Leerink Partners analyst Joseph Schwartz said in a report. This is the first fatality among Elevidys recipients. Sarepta says it has treated north of 800 patients weighing up to 300 pounds with Elevidys in testing and following approval. Sarepta believes this case is "very unique," Schwartz said. "Although we acknowledge that such severe side effects associated with mortality can certainly be alarming and cause the community to question the risk/benefit of treating older patients, we believe that the very low overall incidence which we estimate at less than 0.125% based on aggregate exposure to date is encouraging," he said. He reiterated his outperform rating on Sarepta stock. Well-Known Side Effect Liver toxicity is associated with AAV-based gene therapies. These drugs use non-harmful viruses known as adeno-associated viruses, or AAV, to deliver therapeutic genes to the cells. In this case, the drug tells the body how to make a shortened version of the dystrophin protein that's missing in Duchenne patients. Dystrophin helps keep muscles intact and functional. William Blair's Corwin noted two patients died following treatment with Novartis ' ( NVS ) Zolgensma, a treatment for spinal muscular atrophy. "Overall, we see this event as unlikely to affect patient/physician interest in Elevidys in the near term or Sarepta's full year 2025 product revenue guidance of $2.9 billion to $3.1 billion," she said in a report. Analysts called the sell-off "overblown," "overdone" and "overly bearish." "Thus we think this is an overreaction and presents a buying opportunity ahead of a continued strong Elevidys launch," Leerink's Schwartz said. Meanwhile, shares of Regenxbio ( RGNX ), which is working on Duchenne gene therapies, rose 11.6% to 7.81. Solid Bio ( SLDB ), another gene therapy competitor, saw shares shrink 4.9%, trading down at 5.10. 

JAR of Hope is proud to share the groundbreaking partnership between Roche and Sarepta Therapeutics, aimed at reshaping the way Duchenne muscular dystrophy (DMD) is treated.

Ashley and Adam Wells live in a small town in upstate NY, with their two children, Adam Jr, 13, and Evelyn, 8. Adam Jr. was diagnosed with Duchenne muscular dystrophy just after his sixth birthday. And needless to say, life hasn’t been the same for the Wells family since then. “It all started when Adam’s teacher mentioned to me that his calves seemed unusually large,” Ashley Wells says. “One thing led to another…actually, one test led to another. Eventually he was diagnosed with Duchenne muscular dystrophy. And, like most people, we had never heard of this disease.” (Adam Jr. isn’t alone, though; Ashley notes there are now four kids in their school district with Duchenne.) Duchenne md, of course, is a progressive muscle-wasting disease, with no cure even after more than 200 years. It occurs mostly in boys. By nine or ten, these kids start losing the ability to walk. By the mid-teens, they’re generally breathing on ventilators. And their lifespans extend generally only to the mid-twenties. In recent years, Adam Jr’s condition has made it harder for the Wells family to go out on the hiking, camping, and fishing trips they love. Automobiles, of course, aren’t made with Duchenne patients in mind. And it’s been getting progressively more difficult to get Adam Jr. into the family car, then out of the car and into the wilderness, and then back into the car again. “Adam loves school; he’s a straight-A student,” Ashley says. “But he loves Nature just as much. And it was getting harder and harder to get him out there, because our car – almost any car, really – isn’t built for transporting kids with Duchenne.” Then Lady Luck stepped in. Ashley’s sister-in-law did some research, and found out about JAR of Hope. So she contacted JOH, and after speaking with Jim Raffone, Founder/CEO, she referred Ashley to him. As the family had previously been contacted about Adam Jr. by several “schemers,” Ashley says, they wanted to check JAR of Hope out carefully. And that’s exactly what they did. “The diagnosis of Duchenne md is shattering for families,” she says. “Needless to say, when you look for help, you want to be sure you can trust who you’re dealing with. So we took a careful look at JAR of Hope. Not only were they raising funds to research a cure for this disease, but they were doing it in unique ways. And I discovered they were really good at getting the word out about this horrible disease and its effect on families.” There’s a good reason JAR of Hope is so good at getting the word out. Jim and Karen Raffone’s youngest child, 15-year-old James Anthony (”Jamesy”), also has Duchenne. So they know firsthand the pain parents of these kids feel. The average charitable foundation doesn’t have a team that climbs Mount Everest to raise funds for a cure, which JOH did two years ago. Or that participates in athletic events all over the world, some of them lasting a full week, and involving freezing nighttime temperatures in the mountains or steaming daytime temperatures in the desert. (And the average charitable foundation doesn’t have a founder like Jim Raffone, who, at a muscular 53, leads the JOH team in all these events.) Ashley Wells remembers a conversation in which she mentioned to Jim the difficulty in getting Adam Jr. into and out of the car to enjoy the outdoor pursuits he loves. “We did some research into the type of car that would be appropriate,” Jim Raffone says, “and that would also be available. And when we found such a car, we went after it.” What they found was a 2019 Dodge Grand Caravan. But not just any 2019 Dodge Grand Caravan. The car seemed perfect for the Wells family. It could go off-road and even onto beaches. It had a fishing-rod holder, and a traction chair. It also had a joystick, which allows people with motor disabilities to operate the steering wheel by remote control. And it had a lot of room. But a car like that costs a lot of money. Some of it was raised by a benefit in the town. Some of it was also raised by administrators and teachers at Adam’s school. However, by the end of these efforts, the family was still nearly $8,000 short. “That’s when we upped our involvement,” Jim Raffone says. “We raised the rest of the funds for the family. And now they have a car that Adam Jr. can get in and out of comfortably – with futuristic electronics that really help him – so he can experience all the great outdoors pursuits he loves.” Like most parents with kids with Duchenne md, Ashley Wells will never forget when she heard the diagnosis. “I’d never heard of this disease until that day,” she says. “I received a phone call at work from the doctor…and it was the hardest thing I’ve ever had to hear. But we just keep pushing forward. “And having an ally like JAR of Hope gives us real hope.” 

Kimberly Buk (formerly Kravitz) is a two-time Emmy Award-winning television journalist with a long string of notable accomplishments and awards. She’s a familiar face in the Tri-State area, in both print and electronic media. 

Office of Autism The NJ Department of Human Services’ (DHS) Division of Developmental Disabilities ( DDD ) has been the lead resource agency for individuals with developmental disabilities and families to seek programs and services since 1959. The Division has a broad scope – addressing individual diagnoses that fall collectively within the definition of intellectual and developmental disabilities. Categories and eligibility information can be found here. The Division's mission to protect the health and safety of the individuals it serves, promote equity and fairness among diagnoses and expend responsibly and efficiently state tax dollars continues, today. The most recent study by the U.S. Department of Health and Human Services’ Centers for Disease Control and Prevention identified the national Autism Spectrum Disorders (ASD) rate as 1 in 54 births. New Jersey's rate is reportedly 1 in 32. As such, the state has taken a number of significant steps to be responsive to issues associated with its population of individuals with ASD. An Adults with Autism Task Force (AWATF) was created by statute and charged with making recommendations to the Governor and Legislature about programs and services that would meet the needs of adults with ASD. The report was released in late 2009. Acting upon one of the Task Force’s recommendations, DHS established an Office of Autism (OOA) under the DDD umbrella in August 2010. The Office will provide a centralized place for DDD staff to focus on issues associated with ASD, identify and work with staff in sister state agencies to develop plans of service coordination for persons with ASD and promote, disseminate and organize best practices in the training of staff and other supports to people with ASD. To visit their website, please visit: https://www.nj.gov/humanservices/ddd/individuals/autism/

May 7, 2024 We are deeply saddened to share that a patient participating in our Phase 2 DAYLIGHT study for Duchenne muscular dystrophy has passed away suddenly. On behalf of everyone at Pfizer, we extend our sympathies to his family, friends, and those closest to his care. We do not yet have complete information and are actively working with the trial site investigator to understand what happened. The patient received the investigational gene therapy, fordadistrogene movaparvovec, in early 2023. Initial dosing for the placebo-controlled, randomized Phase 3 CIFFREO trial, which utilizes a crossover trial design, was also completed in 2023. We have decided to pause dosing associated with the cross-over portion of CIFFREO, and we are working with regulators and the independent external Data Monitoring Committee as we learn more about this event. Other than this pause in dosing, trial activities are continuing as scheduled. Both the DAYLIGHT and CIFFREO trials are investigating fordadistrogene movaparvovec in patients with DMD, in different age cohorts: DAYLIGHT in boys 2 years to less than 4 years of age, and CIFFREO in boys 4 to less than 8 years of age. Beyond CIFFREO, the dosing pause does not apply to other ongoing trials in the fordadistrogene movaparvovec program as dosing has been completed in those studies. The safety and well-being of the patients in our clinical trials remains our top priority, and we are committed to sharing more information with the medical and patient community as soon as we can. We are also aware that many in the patient community are hopeful about the potential benefit of fordadistrogene movaparvovec for the treatment of DMD, and we will continue to collect data from our trials to evaluate its ability to address this disease.  As always, if you have questions please do not hesitate to reach out. Sincerely, The Pfizer DMD gene therapy team

Over the past decade, in a quest to fight the deadly disease that ails his son, Manalapan’s Jim Raffone has trekked to Mount Everest base camp , built a record-setting Lego chain , appeared on a special-edition Father’s Day card , and rung the closing bell of the New York Stock Exchange. Next up: Holding a half-marathon on Route 9. It took several years, but Raffone has lined up approvals for the 13.1-mile race, dubbed “NJ Run 4 Hope,” which will pass through five municipalities on the morning of Sunday, Oct. 6. Most of the course is along Route 9 South, which will shut down and reopen gradually as the race unfolds. Proceeds will fund a clinical trial for Duchenne muscular dystrophy — a rare and fatal genetic disorder that causes progressive muscle weakness. Jim’s son James (Jamesy) Raffone was diagnosed with Duchenne at age 4 . He’s now 15 and a freshman at Howell High School. The life expectancy for Duchenne patients is generally in the mid-20s. “Right now time is against us, so with this happening and with the help of all the mayors, it’s been a godsend,” Jim Raffone said. “I can’t thank everyone enough.” This is believed to be the first half-marathon or marathon taking place mostly along Route 9. The race will begin at All American Ford in Old Bridge and proceed south through Marlboro and Manalapan, with a loop through Freehold Borough before ending at iPlay America in Freehold Township. “We’re going to have a huge celebration and a business expo at iPlay,” Raffone said. JAR of Hope, the nonprofit the Raffone family launched in 2014, has been granted approval by the U.S. Food and Drug Administration to begin clinical trials on an investigational drug to treat Duchenne. The trials will be conducted by researchers at the University of Florida. Raffone said he’s hoping to raise $1 million with a field of at least 1,000 runners. The clinical study is expected to cost about $2 million; JAR of Hope has been fundraising for it since the study was approved in 2021. “I would be blown away if we could get 3,000 people (to race),” Raffone said. “We can change the course of this disease by funding a clinical trial with one race.” For more information on NJ Run4Hope, visit www.njrun4hope.com , email info@njrun4hope.org or call 732-414-6670. Jerry Carino is community columnist for the Asbury Park Press, focusing on the Jersey Shore’s interesting people, inspiring stories and pressing issues. Contact him at jcarino@gannettnj.com. 

Jim shares his journey from learning his only son has Duchenne Muscular Dystrophy to running 10 marathons including running over 300 miles from Massachusetts to New Jersey, doing push up around the world and climbing Mt Everest, all to bring awareness to and helping find a cure for this terminal disease.

Nebraska man joins fight against Duchenne muscular dystrophy