JAR OF HOPE FOUNDATION BRINGS SICK YOUNGSTER TO UNITED STATES FOR TREATMENT
It’s not easy to get a little Irish boy with a fatal illness to the United States for medical treatment, especially during COVID-19. But JAR of Hope has done it.
Alfie Pentony, 7, lives in Northern Ireland with his parents, Colleen and Jamie, and two brothers, according to a press release from JAR of Hope.
At the age of 4, Alfie was diagnosed with a very rare, always-fatal muscle-wasting disease called Duchenne Muscular Dystrophy. By their early teens, victims of Duchenne are in wheelchairs and by their early 20’s they are in graves after suffocating to death, according to the press release.
Alfie is participating in a year-long study called Operation Lifeline, conducted by the Salerno Center for Complementary Medicine in New York City, and sponsored by the JAR of Hope foundation of West Long Branch, which raises funds to research a cure for Duchenne.
Because of COVID-19, Alfie and his dad were initially denied entry into the United States for this month’s tests, according to the press release.
“This is a very promising study and we were determined to get Alfie here for the next phase, which is this week,” said Jim Raffone of JAR of Hope, who, with wife Karen, founded the organization in 2014 after their 4-year-old son James Anthony was diagnosed with Duchenne, according to the press release.
“So I began hitting the phone, to Congressman Chris Smith of New Jersey; Tom Lantos of Congress’ Human Rights Commission; Dr. John Salerno of the Salerno Center; and Patrick Smith, legal counsel to Congress’ Human Rights Commission, who was able to connect us to the U.S. State Department and the American Embassy in Ireland,” Raffone said.
In Operation Lifeline, four boys with Duchenne receive infusions of a chemical compound called JAR914 every three months and their muscle strength is measured before and after the treatment. The results have been very encouraging, according to the press release.
“We had brought Alfie here every three months for the treatments, since last October,” Alfie’s dad Jamie said. “But to get here now we needed assistance and JAR of Hope was really there for us. I don’t think we could have gotten Alfie here without them.”
“This is a ground-breaking study,” Raffone said. “For the first time, we are seeing results that may actually prolong the lives of kids with Duchenne … and maybe even lead to a cure. So when Alfie’s parents contacted us, we vowed we would not stop until we got him here.”
Finally, only weeks before this week’s phase of Operation Lifeline, Jamie Pentony and Alfie received permission to come to the United States and Alfie is undergoing the infusions right now, according to the press release.
🧬 What Happened FDA Request: On July 18, the FDA informally asked Sarepta to voluntarily halt all U.S. shipments of its Duchenne DMD gene therapy, Elevidys—a move driven by safety concerns after three patient deaths due to acute liver failure. This included two fatalities in teenage Duchenne patients treated with Elevidys and a third in an adult patient from a different Sarepta gene therapy trial . Initial Pushback: Sarepta initially resisted, stating there were no new safety concerns for ambulatory patients (those who can walk), and maintained shipments for that group. They had previously paused shipments for non-ambulatory patients earlier in the year after two deaths . Reversal and Pause: On July 21–22, Sarepta reversed course and voluntarily paused all shipments in the U.S. by end of business Tuesday, July 22, 2025, to cooperate with the FDA, respond to inquiries, and complete a revised safety labeling for Elevidys . --- 📌 Why It Matters Safety Labeling Update: The pause allows Sarepta and the FDA time to add a stricter warning (including a new black-box liver-risk warning) and possibly implement a Risk Evaluation and Mitigation Strategy (REMS) for monitoring liver safety . Regulatory Relations: CEO Doug Ingram labeled the decision “painful,” but necessary for maintaining a collaborative and constructive relationship with the FDA . Market Impact: Sarepta’s stock plunged, falling as much as 8–5% on the news, and is down nearly 90% year to date. Analysts warn that the pause and black-box warning could severely affect Elevidys uptake and 50–61% of Sarepta's revenue . --- 🔍 What’s Next Duration of Pause: The pause could extend 3–6 months while safety data is reviewed and label changes are finalized . Potential Outcomes: Resumption: Elevidys could return under new safety protocols/label. A REMS program may be required . Market Withdrawal: Analysts caution on the possibility of permanent withdrawal if FDA's safety concerns aren't resolved . Pipeline Impact: FDA has also placed a clinical hold on Sarepta’s other gene therapy trials (including for Limb-Girdle Muscular Dystrophy) and revoked platform tech designation due to the shared AAVrh74 viral vector . --- ✅ In Summary Key Takeaway Details Pause in effect All U.S. Elevidys shipments halted since end of business July 22 Why Safety concerns after 3 liver-related deaths from same viral vector Next steps Label update, FDA review, possible REMS; uncertain pause duration Risks Potential permanent withdrawal, impact on revenue, and pipeline delays
This article originally appeared on www.statnews.com , written by Christine McSherry—a registered nurse and founder of the Jett Foundation—on June 18, 2025.
Aluminum is the third most abundant element in the Earth's crust and has a wide range of industrial and household applications. However, increasing evidence suggests that aluminum exposure may pose health risks, particularly concerning brain health and toxicity. In this article, we’ll explore what aluminum is, how it affects our bodies—especially the brain—and how it may contribute to neurodegenerative diseases like Alzheimer’s. We’ll also discuss sources of aluminum exposure, methods of testing for toxicity, and natural approaches to detoxification.
We are incredibly honored to share that JAR of Hope has been named the 2025 Non-Profit of the Year by the Monmouth Regional Chamber of Commerce as part of their prestigious Beacon Awards . The Beacon Awards are designed to recognize organizations that exemplify outstanding community enrichment through service, leadership, and achievement. It means so much to us that both the MRCC membership and the community at large recognized the work we do and the mission we live by every day. This award is not just a recognition of our team’s efforts—it’s a reflection of the amazing community that supports us, believes in our cause, and stands with us in the fight to raise awareness, fund research, and bring hope to families affected by Duchenne Muscular Dystrophy.
As research into autism spectrum disorder (ASD) continues to evolve, one intriguing area of study is the role of the microbiome—the trillions of microorganisms living in our guts. Emerging evidence suggests that the health of our microbiome may have significant implications for children with autism, particularly in relation to gut disorders and neurological development. This blog explores the connection between the microbiome and autism, emphasizing the importance of detailed stool analyses, checking for parasites, and understanding the gut-brain relationship. What is the Microbiome? The microbiome refers to the vast community of bacteria, viruses, fungi, and other microorganisms that inhabit our digestive systems. These microorganisms play a crucial role in digestion, immunity, and even brain function. In children with autism, studies have indicated that there may be an imbalance in the microbiome, often referred to as dysbiosis. This condition can lead to gastrointestinal issues that are commonly reported in children with ASD, such as constipation, diarrhea, and abdominal pain.
A groundbreaking study published in Cell on January 23, 2020, has identified 102 genes associated with autism spectrum disorder (ASD), including 30 previously unlinked to the condition. Led by Joseph Buxbaum, director of the Seaver Autism Center for Research and Treatment at Mount Sinai, the research analyzed over 35,000 DNA samples, nearly 12,000 of which were from individuals with autism. The study leveraged advanced genetic sequencing technologies and data from the Autism Sequencing Consortium, an international collaboration of scientists sharing samples and data since 2010. By comparing genetic sequences from individuals with autism to their siblings and to unaffected individuals, the researchers identified both inherited mutations and spontaneous (de novo) genetic alterations that may contribute to ASD. Notably, the research distinguished genes more closely associated with autism from those linked to other neurodevelopmental disorders, such as intellectual and motor disabilities. This differentiation enhances our understanding of autism's molecular mechanisms and could inform the development of targeted treatments. Dr. Geraldine Dawson, director of the Center for Autism and Brain Development at Duke University, hailed the study as "one of the most important, comprehensive studies on the genetics of autism to date," emphasizing its role in elucidating the complex genetic landscape of ASD. This research represents a significant step forward in autism genetics, offering hope for more personalized and effective interventions in the future. January 24, 2020 2:19 PM EST Time Magazine
A new study is shedding light on the potential of CBD to ease behavioral challenges in children with autism. Researchers in Israel found that cannabidiol (CBD), a non-psychoactive compound derived from cannabis, significantly improved symptoms like anxiety, aggression, and restlessness in kids on the spectrum. The peer-reviewed study, published in the journal Translational Psychiatry, followed 82 children and teens with autism who were treated with CBD-rich cannabis oil for six months. Results showed that many experienced meaningful improvements in behavior and social communication — with minimal side effects. Parents reported reduced irritability, fewer outbursts, and better sleep among participants. One mother shared that her nonverbal son began using more words and expressing emotions for the first time. While researchers emphasized that CBD isn’t a cure for autism, they believe it could be a safe and effective option to support children with challenging symptoms — especially when traditional treatments fall short. As interest in alternative therapies grows, this study adds to the growing body of research suggesting that CBD may offer a new avenue of hope for families navigating autism. Published April 8, 2025, 9:46 a.m. ET New York Post
As autism diagnoses continue to rise in the U.S., scientists are exploring innovative treatments — and one unexpected option may be a generic cancer drug. Leucovorin, typically used to reduce the side effects of chemotherapy, is showing remarkable promise in improving symptoms of autism. Over the past 13 years, Dr. Richard Frye, a pediatric neurologist, has gathered compelling evidence that leucovorin may help children with autism — including nonverbal kids who began speaking after treatment. While there’s no single “autism pill,” Frye believes leucovorin offers real hope for some families. The drug’s potential lies in its ability to bypass a condition called cerebral folate deficiency (CFD), which is linked to low levels of folate in the brain. Many children with autism have been found to carry folate receptor autoantibodies that block the brain’s folate transport. Leucovorin, a folic acid derivative, can restore folate levels despite this blockage. Frye’s early patients often showed dramatic improvements — from reduced seizures to increased communication and social interaction. With autism now affecting about 1 in 36 children in the U.S., the need for effective treatments has never been greater. While further research is needed, leucovorin is offering a surprising and hopeful path forward.
Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition that affects communication, behavior, and social interaction. As parents of autistic children, you may often find yourself navigating a maze of information, therapies, and treatment options. One approach that has gained traction in recent years is the biomedical model, which posits that by modifying certain environmental factors, we can help improve symptoms and enhance the quality of life for autistic individuals. The Genetic Component of Autism Autism is believed to have a genetic basis, with studies indicating that certain genetic factors may predispose individuals to develop the condition. However, it’s crucial to understand that not all genetic components are set in stone. Some genetic expressions can be influenced by environmental factors, meaning that changes in the environment can potentially modify how these genes function. One such gene of interest is the **MTHFR gene**. To simplify, the MTHFR gene is responsible for producing an enzyme that helps process amino acids—the building blocks of proteins—and is essential for the body's ability to use folate (a type of B vitamin). This gene plays a significant role in the methylation process, which is involved in regulating many bodily functions, including DNA repair and detoxification. When the MTHFR gene is not functioning optimally—often due to mutations—this can lead to a variety of health issues, including problems with metabolism and mental health. In the context of autism, some researchers believe that supporting the body's methylation process through dietary changes and supplements can help address certain symptoms associated with the disorder. The Role of Environment in Modifying Autism The biomedical approach emphasizes the idea that while some genetic factors may be permanent, many are modifiable through environmental changes. This could include dietary adjustments, lifestyle modifications, and the use of specific supplements aimed at enhancing overall health and well-being. For instance, research has shown that certain dietary interventions, such as gluten-free or casein-free diets, can lead to improvements in behavior and communication skills in some children with autism. Furthermore, ensuring adequate intake of vitamins and minerals, particularly those involved in the methylation process, can support brain health and function. A study published in *The Journal of Autism and Developmental Disorders* found that children with autism who were supplemented with methylcobalamin (a form of vitamin B12) showed improvements in communication and social skills. This illustrates the potential impact of targeted nutritional support in managing autism symptoms. The Mind-Body Connection Another aspect of the biomedical approach is addressing the mind-body connection. Many doctors and scientists argue that by focusing on mental health and emotional well-being, we can facilitate better outcomes for autistic individuals. Stress, anxiety, and other emotional factors can exacerbate the challenges faced by children with autism. Therefore, therapies that promote mental wellness—such as cognitive-behavioral therapy, mindfulness, and relaxation techniques—can play a vital role in treatment. Furthermore, some researchers are investigating how gut health may influence autism symptoms. The gut-brain connection is increasingly recognized in modern medicine, and studies suggest that a healthy gut microbiome may positively impact behavior and cognitive function. This underscores the importance of a holistic approach that considers both physical and mental health. Conclusion While autism has genetic components that may be permanent, the biomedical approach offers hope for parents seeking to improve their child's condition through modifications in environment and lifestyle. By understanding the role of genes like MTHFR and the impact of nutrition and mental health, we can empower ourselves to make informed decisions about treatment options. As research continues to evolve, staying informed and connected with healthcare professionals who specialize in autism is essential. Remember, every child is unique, and what works for one may not work for another. Nevertheless, with the right support and interventions, the journey toward improved well-being for autistic individuals can be a positive and transformative experience. If you’re interested in exploring more about the biomedical approach to autism, consider connecting with professionals or support groups that focus on this area. Together, we can create a brighter future for our children.
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.
