Scientist whose mother and sisters died from complications of ALS hopes experimental treatment will save her life

Jeff Vierstra’s mother and two sisters all died after complications from IFor Amyotrophic Lateral Sclerosis, but the scientist and the skier hope that an experimental treatment and the first known attempt to prevent the neurodegenerative disease can help save his life.

Vierstra was only two years old when her mother died. All of his siblings also died of ALS in their late thirties and early forties.

The 41-year-old tells CBS News that he’s not afraid to ski off an iceberg off the coast of Chile or ski off the slopes of British Columbia — what scares him is his family history. Vierstra and her sisters, Erin and Leigh, were all found to have a mutation in a gene called “FUS” that is important for the normal functioning of cells, especially nerve cells. The mutation made it more likely that they would develop ALS.

“Living with that kind of cloud over you is like a mental and emotional experience,” Vierstra said.

About 10 to 15 percent of all ALS patients have a genetic form of the disease, research shows. About two-thirds of those genes are familial, meaning multiple generations of the family are affected, according to Dr. Neil Schneider, a Columbia University neurologist who studies genetic variants of ALS.

An estimated 35,000 people in the United States are living with ALS, also known as Lou Gehrig’s disease, according to the Centers for Disease Control and Prevention. ALS causes progressive damage to the nerves, which are the cells that control muscle movement. Over time, the patient loses the ability to walk, talk and, eventually, breathe.

Currently, there is no cure, but researchers around the world are working on new treatments. That includes an experimental procedure being opened at the Eleanor and Lou Gehrig ALS Center at Columbia University for the rare gene.

The Vierstra sisters both developed symptoms of ALS and participated in a clinical trial at Columbia University for an experimental treatment targeting the altered gene. Dr. Schneider, the neurologist leading the case, re-examined Vierstra and found abnormalities in the EMG (electromyography), which examines electrical signals in the muscles.

Dr. “It was a difficult time,” Shneider said. “We thought this meant that this was the first sign of the onset of disease and that he was at risk of full-blown death.”

Dr. Schneider gave Vierstra the same experimental treatment given to her sisters in an effort to prevent ALS. Vierstra wanted to be active, and she said, “I jumped at the chance to do that.”

Every few months for the past three years, Vierstra has been receiving infusions into his back where he targets and turns off the altered gene. Although both of her sisters eventually developed complications from ALS and died, Vierstra said she felt that the treatment “extended their lives.”

After a year, the original abnormality seen on his muscle test was normal.

Vierstra has not developed ALS and is outliving many of his family members. Dr. Shneider believes that the research is “a very big thing,” and added, “I think there is real hope and opportunity to make this a living, non-fatal disease.”

As Vierstra continues to work as a scientist in addition to skiing, hiking and traveling the world, he says he feels like he’s getting another lease on life.

“And maybe this works for me and I can start thinking about the future, and I wouldn’t be able to,” Vierstra said.

Dr. Schneider hopes that insights learned from studies of familial forms of ALS will eventually help people with non-familial forms. He and the ALS Center at Columbia University are working to expand their research beyond FUS-ALS. To inquire about participating in Silence ALS, an initiative to develop gene-based therapies for patients with rare genetic forms of ALS, contact silenceals@cumc.columbia.edu.