About the photo: Jon Ferraiolo and Karen Kang greet Nancy Sallaberry, center, while taking their seats at the “Quest For a Cure” fundraiser hosted by Sallaberry and her husband, Paul, at the Sharon Heights Golf & Country Club in Menlo Park on April 21, 2018. Photo by Veronica Weber.
One of the mysteries of amyotrophic lateral sclerosis (ALS) is that each case is different, according to Steve Perrin, president and CEO of the ALS Therapy Development Institute.
“If there’s a hundred newly diagnosed ALS patients in this room, I can’t tell you which one is going to lose their battle to the disease in six months which happens — and which one is going to be Stephen Hawking,” he said April 21 at a Menlo Park fundraiser for the organization.
Hawking, a renowned physicist, died on March 14 after living with ALS for a remarkable 55 years. The average life expectancy is five years for an ALS patient, according to Perrin and other experts. There are a host of other variables: The disease can begin in the throat (about 10 percent of cases) or in the extremities; patients can have a linear decline or periods when they plateau.
But there are some promising developments, Perrin said. A new drug created by the institute, AT-1501, is expected to begin human clinical trials this year following a green light from the U.S. Food and Drug Administration, he said. It is a novel antibody that blocks specific immune cells from activating and protects nerves against the progression of ALS and Alzheimer’s disease. The drug has gone further than any other in the institute’s clinical efficacy trials, according to its website.
The institute’s Precision Medicine Program, which has analyzed hundreds of genetic tests, is helping to classify different subgroups and variables of the disease so that clinical trials and targeted treatments can happen faster. The program has also conducted experiments into a genetic mutation thought to be the major genetic cause of ALS worldwide, according to the National Institutes of Health.
Testing a drug for a disease like ALS takes 500 to 600 people for a study to have enough participants to take into account the differences in the disease; those tests could cost $100 million, Perrin said.
“ALS is not an incurable disease. It’s an underfunded one,” he added.
The U.S. government is the single largest funder of ALS research and care, according to the ALS Association. The National Institutes of Health has an estimated budget in 2018 of $83 million. By comparison, malaria, which caused just 13 U.S. deaths in 2015, was budgeted $202 million by Congress in 2018, according to its funding documents.
Military veterans are approximately twice as likely to develop ALS, according to the ALS Association, but congressional appropriations to the Department of Defense ALS Research Program from 2007-2017 fiscal years totaled $69.4 million. The 2018 fiscal year appropriation is $10 million, according to the Department of Defense.
Still, these are substantial funding increases compared to past levels. NIH funding was just $15 million for ALS in 1995, according to the ALS Association, which opened a public policy department in 2007 to advocate for ALS funding.
Congress also approved the National ALS Registry Act in 2008, which created the first nationwide ALS patient registry. It is the single largest ALS research project ever created and has enrolled nearly 16,000 people with ALS, according to the association, which worked with Congress to secure more than $58 million for the registry. The program has funded research into the causes of ALS and established a biorepository that collects thousands of blood and tissue samples,for use in research.
Fundraising by patients has also increased. The ALS Association’s Ice Bucket Challenge raised $115 million in summer 2014, and the nonprofit group Augie’s Quest, started by ALS Therapy Development Institute board Chairman Augie Nieto, has raised $50 million since 2007.
The “Quest for a Cure” fundraiser in Menlo Park, co-hosted by Augie’s Quest and Menlo Park residents Nancy and Paul Sallaberry, raised more than $900,000. Nancy Sallaberry and Nieto both have the fatal neurodegenerative disease.
Dr. Neelam Goyal, clinical assistant professor of neuromuscular medicine at Stanford University School of Medicine, has been following Palo Altan Jon Ferraiolo’s case since late 2013.
“ALS is a neurodegenerative disease, belonging to the same group of disorders as dementia. With dementia, your memory neurons are slowly dying so patients lose their memory. In ALS, it’s the motor neurons. … Because those neurons are damaged it leads to muscle weakness and then loss of mobility,” she said.
From a scientific point of view, the disease is fascinating, she said.
“The underlying cause and disease mechanisms remain unclear although there are many theories. There may be multiple diseases that end up looking the same.”
As a physician, one of the most personally interesting parts of ALS is being part of the patient’s journey and have the ability to make a meaningful impact in someone’s life.
“To be able to share the sorrow and that human experience keeps me grounded and allows me to not take things for granted. In a perfect world, I wish I can cure the disease. I wish I could give my patients a medication that will make them strong again, and I’m hopeful and optimistic that that is around the corner. But until we get there, we are consistently striving to do more for our patients and to allow them to have a good quality of life and remain functional for as long as possible,” she said.
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