Happenstance can take many shapes. But for 45-year-old Sutter patient Vashti Ross, who was found to have a rare genetic mutation that caused Amyotrophic Lateral Sclerosis (or “ALS”, sometimes called Lou Gehrig’s disease) following diagnosis of the disease, the finding provided her the unique opportunity to enroll in VALOR, a Phase 3 clinical trial of a new treatment for ALS.

Diagnosed with ALS at age 37, Vashti first sought advice relating to the disease from a neurologist at Providence Health & Services in Portland, OR, where she has lived since 2000. With no family history of ALS and only a slight “hitch” in her step, the diagnosis was shocking.

“I began searching for news of drugs or other therapies that might offer cure,” says Vashti. But her primary care doctor and neurologist counselled Vashti that ALS remains a disease without a cure.

With only a handful of potential therapies in the research pipeline that might target Vashti’s specific genetic mutation – called SOD1 – Vashti’s physicians advised that a clinical trial might be the best way to slow the progression of her ALS.

ALS is a rare, progressive neurodegenerative disease that affects motor neuron nerve cells in the brain and the spinal cord. Motor neurons connect to the muscles throughout the body. The progressive degeneration—or loss of function—of the motor neurons in ALS eventually leads to their death. When the motor neurons die, the ability of the brain to start and control muscle movement is lost, causing symptoms such as muscle twitching and weakness in a limb, or slurred speech. Eventually, ALS affects control of the muscles needed to move, speak, eat and breathe.

Vashti’s neurologist in Portland searched for clinical trials in the National ALS Registry and found one that matched Vashti’s specific type of the disease. The catch: the clinical trial would be offered at Sutter’s California Pacific Medical Center (CPMC) in San Francisco, at the nationally renowned Forbes Norris MDA/ALS Research and Treatment Center.

CPMC is the only site in Northern California and the north-western U.S. states offering enrollment in the clinical trial.

Vashti made a quick decision: the travel would be worth the opportunity to participate in the clinical trial testing a new, investigational drug that might slow the progression of her illness and ease her symptoms — which at that point included difficulty walking and using her hands.

“The very day I was diagnosed with ALS, I asked my doctors ‘how can I be part of research?’ to help pave the way for new solutions in treating this illness,” says Vashti.

She met with CPMC physician-researcher Jonathan Katz, M.D. in 2019 and was enrolled to the clinical trial. She travels to San Francisco once a month to receive treatment with Tofersen, a medication made by the pharmaceutical company Biogen and administered by intrathecal injection. Based on results from earlier conducted studies, the drug has previously been shown to help reduce the severity of ALS symptoms in people with the SOD1 mutation.

“The most pressing challenge of ALS is finding a treatment that is effective in slowing the progression of disease. Despite decades of scientific research, there are still only two FDA-approved medications to treat ALS,” says Dr. Katz, who co-directs the Forbes Norris Center.

“Both approved treatments have limited effectiveness in halting the persistent degeneration of motor nerves in the brain and spinal cord associated with ALS,” says Dr. Katz. “At the Forbes Norris Center, we are proud to offer our patients access to clinical trials of cutting-edge treatments and multidisciplinary care for their illness. ALS is not just one disease; it has multiple clinical manifestations and complex pathways underlying its development and progression. Through research and clinical trials, we are slowly chipping away at the challenges that underlie the illness. This gives me renewed hope for the patients we care for.”

More Information on ALS

• Sporadic and Familial ALS — Sporadic ALS is the most common type of ALS. It is called “sporadic” because it can affect anyone and there is no clear cause. Although the majority of patients suffer from sporadic ALS, a smaller fraction of patients have an inherited, or familial, form of ALS caused by a variety of genetic mutations.
• SOD1-ALS — This type of the disease is called “Familial ALS”, and is inherited from a family member. It is caused by a mutation, or change, to a gene called superoxide dismutase 1, or SOD1. This clinical trial includes people who are living with ALS caused by a SOD1 gene mutation.