During the 40 years Dr. Benjamin Brooks has studied and cared for patients with amyotrophic lateral sclerosis, little progress has been made in treating the neurodegenerative disorder known as Lou Gehrig's disease.
Now, a recent breakthrough - for which Brooks, director at Carolinas Neuromuscular/ALS-MDA Center in Charlotte, served as a lead investigator - has the ALS community encouraged that significant advances in the treatment of the disease, and others like it, are on the horizon.
Brooks was part of a team of researchers affiliated with Northwestern University Feinberg School of Medicine who made the discovery. They found that a faulty protein recycling system in the body's neurons causes all three kinds of ALS: familial, sporadic and the form that specifically targets the brain.
In August, Brooks co-authored a report of the findings with lead researcher Dr. Teepu Siddique of the Davee Department of Neurology and Clinical Neurosciences at Northwestern/Feinberg.
Brooks and his team have collaborated with ALS researchers at Northwestern for the past four decades.
Carolinas Neuromuscular/ALS-MDA Center in Charlotte diagnoses between 80 and 110 new cases of ALS each year. Most are sporadic, meaning no known cause for the onset of the disease has been determined, although researchers suspect environmental toxins may be a contributing trigger.
Brooks said the discovery about the malfunctioning protein recycling system is like a neighborhood that no longer has a regular garbage collector.
"It's sort of like clearing out the trash from your street. There's a normal mechanism that does that, and if you don't do that, that trash builds up, and cars can't get through the street."
As a result of the accumulation, neurons responsible for controlling muscle movement are damaged and eventually die.
The federal Centers for Disease Control and Prevention estimate 30,000 people in the U.S. are living with ALS. The neurological disease attacks nerve cells in the brain and spinal cord, leading to eventual paralysis, including the chest muscles that control breathing. The disease is fatal; those afflicted have a survival rate between three and five years.
The odds of being diagnosed with ALS increase with age.
Discovering the cause, said Brooks, could lead to the development of drugs better targeted toward the treatment of ALS and diseases with similarities, such as Parkinson's and Alzheimer's.
Advances in managing ALS have been few since the disorder was discovered in the 1860s. Until recently, Rilizole, a medicine used to slow the progression of ALS, was the only FDA-approved drug to treat the disease.
Rilizole, which delays the need for a ventilator to assist in breathing, is thought to increase the percentage of patients who survive for at least five years after diagnosis from 10 percent to 20 percent.
Those are still low figures, however, when compared to such drug therapies as Tamoxifen, a breast cancer medication that increases the number of patients who survive for at least five years to 80 percent.
"What we've achieved is not as great as what people would wish," Brooks said of ALS drug therapies. "What you would like is to see something like what Tamoxifen did for breast cancer."
Over the decades, multiple drugs have been tried in ALS patients, often with little improvement. Sometimes, said Brooks, patients' condition worsened.
Brooks hopes his team's discovery of the cause of ALS will lead to the development of drugs that treat the disease more effectively.
"Now we have a target that we haven't looked at before, for specific drug treatments," he said. "It's definitely within reach."