Eight years after receiving a life-shattering diagnosis, a New Jersey mother credits an “amazing” new drug for stopping her disease in its tracks.
Raziel Green, 52, an active runner and mother of two, was diagnosed with a rare form of ALS in 2017.
The former retail manager first started experiencing symptoms more than 10 years ago, when her legs started to feel heavy during what would normally be an easy run, Green told Fox News Digital during an on-camera interview.
“A couple months later, I started to struggle going up the stairs at my house,” she recalled.
Several months later, when Green started to experience balance issues and muscle loss, she decided to see a neurologist, who told her there was nothing wrong.
Knowing that her mother and aunt had both been diagnosed with a rare form of ALS, Green pushed for more opinions and tests. It wasn’t until she saw a third neurologist, who specialized in genetic diseases, that she was diagnosed with the superoxide dismutase 1 (SOD1) gene and amyotrophic lateral sclerosis (ALS).
The disease, which is caused by mutations in the SOD1 gene, accounts 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 learned about a clinical trial at Mass General for an experimental drug — QALSODY® (tofersen), which is made by Biogen in Cambridge, Massachusetts.
The medication is administered into the spinal fluid via a lumbar puncture every few weeks.
“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 four months, Green said she saw a “huge difference,” and has not gotten any worse 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.”
Benefits and risks
QALSODY is designed specifically to treat the SOD1 form of ALS by lowering the toxic effects of the mutations in the SOD1 gene, according to Timothy M. Miller, MD, PhD, vice chair of neurology research and co-director of the ALS Center at Washington University in St. Louis.
“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 doctor, who was not involved in Green’s care, told Fox News Digital.
Dr. Thomas Purvis, a neurologist at the West Virginia University Rockefeller Neuroscience Institute, called tofersen one of the “most exciting medications” for ALS in recent years.
While the benefits seen during the 28-week trial period were “modest,” he said, patients began to look and feel better over the long term.
“This is often the case in clinical trials for chronic diseases — 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,” Purvis, who also was not involved in Green’s care, told Fox News Digital.
“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.”
There have been some side effects seen in a small number of patients who have taken QALSODY.
“Approximately 7% of those treated with QALSODY in the clinical trial had serious side effects, including myelitis (inflammation of the spinal cord), radiculitis (nerve pain), increased intracranial pressure, and some others,” Miller shared with Fox News Digital.
Some rare effects included severe headaches, weakness, and sensory loss, according to Purvis.
“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 added.
“Current data, however, seems to tell us that the therapies are safe long-term.”
Stephanie Fradette, Pharm.D., head of the neuromuscular development unit at Biogen (maker of QALSODY), noted that in the Phase 3 VALOR study, 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 told Fox News Digital.
“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.”
‘Hope to keep going’
Green expressed her gratitude for the opportunity to take QALSODY, which has now been approved by the U.S. Food and Drug Administration (FDA) and is available to anyone diagnosed with this specific gene mutation.
Every 28 days, Green goes to receive the medication.
Today, she is somewhat limited in her mobility. She uses a cane full-time and a wheelchair for long distances — but given that her symptoms have not worsened, Green is still able to do many of the things she enjoys.
“I can still travel. I can still get myself up. I am still independent in my daily activities,” she told Fox News Digital. “I still go to the gym once in a while, when accompanied by someone.”
Green has also been able to participate in her children’s sports competitions, graduations, and other milestones.
The medication has given Green — and other patients with the same gene — “hope to keep going,” she said.
“And it gives my kids the opportunity to get tested and to have this medicine as a preventative treatment,” Green went on. “That was the main goal for me — to stay stable going forward after receiving the treatment.”
