New Jersey Mother Credits Groundbreaking Drug for Halting Progression of Rare ALS
Raziel Green, a 52-year-old mother of two from New Jersey, is sharing her inspiring story of resilience and hope after a life-altering diagnosis of a rare form of amyotrophic lateral sclerosis (ALS). Eight years after receiving the diagnosis, Green credits a revolutionary new drug, QALSODY® (tofersen), for effectively stopping the progression of her disease.
Green, who was once an avid runner and active mother, first began experiencing symptoms more than a decade ago. She noticed that her legs felt unusually heavy during her regular runs, making even easy routes challenging. "A couple of months later, I started to struggle going up the stairs at my house," she recalled in an interview with Fox News Digital.
As her symptoms worsened, Green experienced balance issues and noticeable muscle loss. Concerned, she sought medical advice from a neurologist, who initially dismissed her concerns, stating that there was nothing wrong. However, Green knew her family history. Her mother and aunt had both been diagnosed with a rare form of ALS. Armed with this knowledge, Green persevered and sought further medical opinions. It wasn’t until she consulted a third neurologist, a specialist in genetic diseases, that she finally received an accurate diagnosis: superoxide dismutase 1 (SOD1) gene-related amyotrophic lateral sclerosis (ALS).
ALS, also known as Lou Gehrig’s disease, is a progressive neurodegenerative disease that affects nerve cells in the brain and spinal cord, leading to muscle weakness, paralysis, and eventually, death. The disease is often caused by genetic mutations. The SOD1 gene mutation is responsible for approximately 10% to 20% of genetic ALS cases and 1% to 2% of sporadic ALS cases, according to the ALS Association.
Soon after her diagnosis, Green discovered a clinical trial at Mass General for an experimental drug called QALSODY® (tofersen), developed by Biogen in Cambridge, Massachusetts. QALSODY is administered directly into the spinal fluid through a lumbar puncture every few weeks.
Recognizing the potential of this experimental treatment, Green was eager to participate in the clinical trial. "I was given the opportunity and was fortunate enough to be a part of the trial," she said. "Knowing that we have the gene, I really wanted to do this not just for me and my family, but for others who have this form of ALS."
Within a remarkable four months of starting the treatment, Green reported a "huge difference" in her condition. To her relief and amazement, her symptoms have not worsened since. "I saw a neurologist and she compared notes from between now and seven years ago, and she cannot see anything that is different from the day that I was diagnosed," she shared, highlighting the drug’s impact on halting the disease’s progression.
Dr. Timothy M. Miller, vice chair of neurology research and co-director of the ALS Center at Washington University in St. Louis, explained that QALSODY is specifically designed to treat SOD1-related ALS by reducing the toxic effects of mutations in the SOD1 gene.
According to Dr. Miller, about 20% to 25% of individuals with SOD1 ALS who have been treated with QALSODY have experienced not only a slowing of disease progression but also a complete halt in progression or even signs of improvement. He was not involved in Green’s care.
Dr. Thomas Purvis, a neurologist at the West Virginia University Rockefeller Neuroscience Institute, echoed Dr. Miller’s enthusiasm, calling tofersen "one of the most exciting medications" for ALS in recent years. Dr. Purvis, who was also not involved in Green’s care, noted that while the benefits observed during the initial 28-week trial period were "modest," patients began to experience noticeable improvements over the long term.
"This is often the case in clinical trials for chronic diseases," Dr. Purvis explained. "The benefit is better appreciated when the treated patients are followed over a longer period of time, so it is hard to say when the drug is newly released just how much benefit we can expect to see over the long term."
Dr. Purvis speculated that because the drug targets DNA, it could potentially be curative if administered early enough. "We can speculate that because the drug targets the DNA, it could be curative if given early enough, but these trials have not been conducted yet."
While QALSODY has shown remarkable promise, it is not without potential side effects. According to Dr. Miller, approximately 7% of patients treated with QALSODY in the clinical trial experienced serious side effects, including myelitis (inflammation of the spinal cord), radiculitis (nerve pain), and increased intracranial pressure. Dr. Purvis added that some rare effects included severe headaches, weakness, and sensory loss.
Dr. Purvis emphasized the importance of considering long-term consequences. "Finally, we do not know the long-term consequences decades down the line after we expose patients to these therapies, simply because they have not been around long enough," he cautioned. However, current data suggests that the therapy is safe long-term.
Stephanie Fradette, head of the neuromuscular development unit at Biogen, reported positive findings from the Phase 3 VALOR study. She noted that QALSODY-treated participants experienced a 55% reduction in plasma neurofilament levels, a marker of neurodegeneration, compared to a 12% increase in placebo-treated participants.
"As we look ahead at what’s next for ALS research, our work in SOD1-ALS has shown that it is possible to slow the devastating neurodegeneration that occurs in this disease," Fradette said. "We are continuing to apply lessons from our recent research in SOD1-ALS, as well as research we have done over the last decade, to help us bring safe and effective therapies to the broader ALS community."
Green expressed profound gratitude for the opportunity to participate in the QALSODY trial. The drug has since been approved by the U.S. Food and Drug Administration (FDA) and is now available to individuals diagnosed with the specific SOD1 gene mutation.
Every 28 days, Green receives her QALSODY treatment. Although she now relies on a cane full-time and uses a wheelchair for longer distances, she remains grateful that her symptoms have not worsened, allowing her to continue enjoying many of the activities she loves.
"I can still travel. I can still get myself up. I am still independent in my daily activities," she said. "I still go to the gym once in a while, when accompanied by someone."
Green has also been able to actively participate in her children’s lives, attending their sports competitions, graduations, and other important milestones.
Green believes that QALSODY has provided her, and other patients with the SOD1 gene mutation, with "hope to keep going."
"And it gives my kids the opportunity to get tested and to have this medicine as a preventative treatment," Green added. "That was the main goal for me — to stay stable going forward after receiving the treatment." Her story serves as a beacon of hope for the ALS community and highlights the importance of continued research and the development of innovative therapies for this devastating disease.
