New Jersey Mother Credits Breakthrough ALS Drug with Stopping Disease Progression

Raziel Green, a 52-year-old mother of two from New Jersey, found her life suddenly altered eight years ago when she received a rare diagnosis of amyotrophic lateral sclerosis, commonly known as ALS. This degenerative disease can severely impact mobility and quality of life, yet Green now credits an innovative drug for halting its advance.

The path to her diagnosis began more than a decade ago, when Green experienced unusual heaviness in her legs during her routine running sessions. This troubling symptom sparked concern for Green, who was actively pursuing a healthy lifestyle. She noted, “A couple of months later, I started to struggle going up the stairs at my house.” These incidents prompted her to consult with multiple neurologists for a definitive diagnosis.

From Confusion to Clarity: The Diagnosis Journey

Initially, Green faced skepticism from medical professionals, as one neurologist assured her there was nothing wrong. Nevertheless, she persisted in seeking answers, motivated by her family’s history with ALS. Both her mother and aunt had been diagnosed with rare forms of the disease. It was only after consulting a specialist in genetic disorders that Green received a diagnosis involving the superoxide dismutase 1 gene mutation linked to a hereditary form of ALS.

As outlined by the ALS Association, mutations in the SOD1 gene account for 10% to 20% of hereditary ALS cases and 1% to 2% of sporadic instances. Understanding this urgent connection to her family history fueled her determination to seek treatment options.

Exploring Treatment Options: The Clinical Trial

Shortly after receiving her diagnosis, Green discovered a clinical trial at Massachusetts General Hospital evaluating a pioneering drug named QALSODY, developed by Biogen in Cambridge, Massachusetts. This experimental drug promises hope for patients with the SOD1 form of ALS.

QALSODY represents a groundbreaking approach, as it is delivered directly into the spinal fluid through a lumbar puncture every few weeks. Green expressed deep gratitude for the chance to participate in this trial, saying, “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.”

Miraculous Results: Observing Progress

Within four months of initiating the treatment, Green experienced a remarkable shift in her health. She shared, “I saw a huge difference, and I have not gotten any worse since starting the trial.” A follow-up visit with a neurologist revealed that there were no discernible changes in her condition since her diagnosis.

Dr. Timothy M. Miller, an expert in neurology and co-director of the ALS Center at Washington University in St. Louis, noted that QALSODY is specifically designed to mitigate the toxic effects associated with SOD1 gene mutations. He explained, “About 20% to 25% of people with SOD1 ALS treated with QALSODY have shown not only slowing of progression but have had progression stopped altogether or shown signs of improvement.”

The Potential of New Treatments

Dr. Thomas Purvis, a neurologist at the West Virginia University Rockefeller Neuroscience Institute, described tofersen, the active ingredient in QALSODY, as one of the most promising medications for ALS in recent years. Despite the modest benefits observed during the initial 28-week trial, Purvis emphasized that patients may experience improved outcomes over longer durations.

He also expressed hope regarding the drug’s potential, speculating, “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.”

Understanding Risks and Long-Term Impact

As with any clinical trial, there were noted side effects among participants using QALSODY. Dr. Miller reported that around 7% of those involved in the study experienced serious complications, including myelitis, radiculitis, and increased intracranial pressure. Some other rare effects, according to Purvis, included severe headaches and sensory loss.

Miller pointed out that long-term consequences remain largely unknown due to the drug’s recent introduction. Nevertheless, data gathered thus far suggests these therapies may be safe over extended periods.

Looking Ahead: Hope for ALS Patients

QALSODY has gained FDA approval, making it accessible for patients diagnosed with the specific SOD1 gene mutation. Green continues to receive the medication every 28 days. While she utilizes a cane for daily activities and a wheelchair for longer distances, she remains active in her life.

Green proudly shared that the treatment’s success allows her to engage in various activities, including attending her children’s sports events and other important milestones. “I can still travel. I can still get myself up. I am still independent in my daily activities,” she said. She added that this stability has also provided her children an opportunity for testing and preventative treatment.

A Future Filled with Possibilities

Green articulated her feelings of hope and gratitude toward the treatment and the researchers behind the drug. “The medication has given me, and others with the same gene, hope to keep going,” she stated. The advancements in ALS research and treatment signal a powerful narrative of perseverance, offering new paths for countless individuals facing similar challenges.