On borrowed time


by Maria Lameiras | Photography by Jack Kearse

Every day, every way, Emory’s clinicians and researchers are looking for a breakthrough to treat ALS.

On a typical clinic day at Emory’s ALS Center, director Jonathan Glass and his colleagues see a dozen or more patients with amyotrophic lateral sclerosis (ALS). This Friday is no exception.

There are patients here dealing with all stages of the disease, some newly diagnosed, others confined to wheelchairs. 

Newlyweds Jimmy and Sondra Everett are among the people in the center’s lobby. They had planned to grow old together before ALS struck Jimmy, 55, a high school assistant principal, coach, and athlete from Tallahassee, Florida. “We’ve got to live with it,” says Sondra. “We don’t have a choice.” Jimmy’s words echoes those of his wife: “I have to accept it. It’s a bad draw, but I just have to move on.”

ALS is a bad draw. Commonly called Lou Gehrig’s disease for the popular New York Yankees baseball player who died of it in 1941, ALS is a devastating disease that kills the motor neuron cells in the brain and spinal cord, causing the brain to lose ability to control muscles in the body. It inevitably leads to paralysis and problems with swallowing, eating, and breathing. The person’s mental capacity remains intact, making the disease a cruel sentence for patients who are often otherwise healthy and active before being diagnosed.

“This disease is a horrific one,” Glass says. “It hits people smack in the middle of their productive lives, and it affects not only the individual but the whole family.”

For patients and their families, Emory’s ALS Center provides multidisciplinary care, focusing on independence and quality of life. Together, Emory neurologists, nurses, a speech language pathologist, a social worker, dieticians, and occupational, physical, and respiratory therapists address all aspects and stages of ALS. 

“We have created a patient-centered approach that has been successful for our patients,” Glass says. “The family comes to us, and we bring the providers
to them.” 

The axons of ALS

In addition to providing clinical services, Emory’s ALS Center is searching for a research breakthrough to understand the disease. It partners with the Muscular Dystrophy Association of Georgia and the ALS Association of Georgia, bringing together clinicians and scientists familiar with a wide spectrum of human neurodegenerative diseases. It is one of five centers that participate in the national clinical research network to support ALS research.

“Instead of having silos of research in each area, we have them mixed together so we can learn from each other,” Glass says. Believing that neurodegenerative diseases may all be related in some way, the Emory teams include specialists in Alzheimer’s, Parkinson’s, ALS, Huntington’s, and other age-related neurodegenerative diseases. 

In the ALS Center, research focuses on the basic mechanisms of motor neuron degeneration, genetics, and new experimental treatments. A main focus of Glass’s laboratory is figuring out why ALS causes nerve fibers, called axons, to die. 

“Axons connect the nervous system to the muscles and skin and give the body all of its interaction with the outside world,” Glass says. “The ability to feel, move, do anything is controlled by the impulses that travel up and down the axons from the brain. The major feature of neurodegenerative diseases is that these wires die, disconnecting the brain center from the outside world.”

Using cell cultures and animal models, Glass and his research team create models of the nervous system and ALS to identify factors that cause axon death. They then look at the pathways of cell death to find ways to prevent it from occurring. 

With biochemists from Georgia Tech, Glass is working to develop new drugs to prevent axon cell death. The researchers are testing the potential of calpain inhibitors in mouse models to see if they can limit the toxic effects of the cancer drug Taxol (which causes axonal degeneration in humans and mice). Calpains are enzymes that are active in models of neurodegeneration, and Glass’s research has shown that administration of a calpain inhibitor in mouse models seems to prevent axonal degeneration and preserve function. 

Genetic links and breaks

Most current research focuses on familial ALS, even though only 10% to 15% of all ALS patients have the familial form. The rest have what is called sporadic ALS. Of all familial patients, about 20% have a mutation of SOD1, an enzyme present in all normal cells that detoxifies oxygen. The remaining 80% of familial ALS patients have a gene linked to ALS, but doctors and researchers do not know why the gene causes ALS. 

“These indicators in familial ALS give us a place to start,” says Glass. Since people with familial ALS are virtually indistinguishable from those with the sporadic form, what researchers learn about the genetic form will help them better understand sporadic ALS. 

“Many believe that neurodegenerative diseases are all linked,” says Glass. “The question is, how many ways are there to ‘break’ the nervous system? Probably, not many. Similar mechanisms have to cause it.
If we can find out what causes axon degeneration in any situation, it could lead to
prevention or treatments for the range of neurodegenerative diseases.” 

Glass also is working with Emory geneticists to find protein biomarkers that can
predict the severity and progression of
ALS, which impacts each patient with differing symptoms, severity, and rate of progression. Prognostic biomarkers could lead
to a clinical trial to see how these protein biomarkers change in different patients.

At press time, Glass had just learned that the FDA has approved a phase I clinical trial to treat ALS with spinal cord stem cells. Emory is awaiting approval from its Human Investigations Committee to participate in this landmark trial.

A cure can’t come too soon for the Everetts. As Jimmy puts it, “I hope Dr. Glass has a breakthrough soon.” 

     
  brian duffy

Youthful inspiration

When people learn about Lou Gehrig’s disease, when they meet someone who is struggling to keep a positive attitude in the face of death, they want to do something to help. Private support drives both research and patient care at Emory’s ALS Center.

One of the center’s patrons is Brian Duffy (above, left). Brian, 15, first learned about ALS while watching the Ironman triathlon in Kona, Hawaii, in 2005. That year, racer Jon Blais became the first person with ALS to complete the race. After watching televised coverage on Blais, Brian—a triathlete himself—told his parents, Karen and Mike, that he wanted to do something to help.

With their support, the teenager began a letter-writing campaign to family and friends in 2006, initially raising more than $2,200 for ALS research. His parents began running in triathlons to raise money for the cause, and his younger brother, Kevin, a golfer, began selling golf balls as a fund-raiser.

While at the ALS Association’s Atlanta Walk, the Duffys met Glass, who took them on a tour of his lab and explained some of the research his team was working on. “After the tour,” Karen Duffy says, “Brian turned to me and said, ‘Mom, this is where we need to give our money.

At Brian Duffy’s urging, the family held its first annual “Cure for ALS” 5K race in 2007. To date, they have raised more than $40,000 for ALS research and care at Emory.

Glass says donors like the Duffys provide a link to the community and let people know about the essential work being done at the center. “Brian’s efforts are what really started his family’s fund-raising efforts. He and his brother are amazing kids,” Glass says.

 
     

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Play Slideshow


ALS Slide Show: On Borrowed Time: ALS Patient Stories

On Borrowed Time:
ALS Patient Stories

They haven't really survived; instead they are just holding on. Listen to Emory patients talk about being diagnosed with ALS and how they are coping with this devastating disease.



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