Will $94 million raised from Ice bucket challenge yield cure for ALS?

Pete Frates (center) with (from left) sister Jennifer Mayo, niece Adelyn, age 2, wife Julie, third baseman Will Middlebrooks, Boston Red Sox manager John Farrell, mom Nancy Frates, brother Andrew, and father John on the Fenway outfield grass on Aug. 14. Barry Chin/Globe Staff

If you haven’t yet taken the Ice Bucket Challenge or seen dozens of videos of others pouring a pail of frigid water over their heads, you’re likely reading this in print because you don’t own a computer or smart phone. For the other 85 percent of Americans, ice bucket fatigue is beginning to set in and one wonders whether the $94 million donated so far to the ALS Association will provide a shot at curing ALS, also known as “Lou Gehrig’s Disease,” or at least accelerating the discovery of better treatments.

Barbara Newhouse, president and CEO of the ALS Association, said the non-profit group is “absolutely committed to transparency” and will “invest these dollars wisely in areas that will have maximum impact on the fight against this devastating disease.” The group has the highest four-star rating from charity navigator, a non-profit watchdog group. In 2013, the ALS Association used 79 percent of donated funds on research grants, education efforts, and patient services, according to the association’s website. The rest of the funds went toward fund-raising efforts and administrative costs.

(The American Cancer Society, by comparison, has a two-star rating with 59 percent of donations going to programs and research, while the rest goes toward fund-raising and staff expenses.)

ALS, short for amyotrophic lateral sclerosis, strikes 1 in 1,000 Americans and destroys motor nerve cells in the brain and spinal cord causing progressive paralysis and death, typically within two to five years. How the Ice Bucket Challenge got started remains a matter of debate, but 29-year-old ALS patient Peter Frates, a former captain of the Boston College baseball team, was instrumental in helping it go viral through a social media campaign he initiated in mid-July.

Boston ALS researchers, who have all received grants from the ALS Association, say the influx of donations couldn’t come at a better time. Recent discoveries of more than 35 gene mutations linked to ALS and new therapies in the pipeline to target those mutations have left scientists more optimistic than they were a decade ago about potential new treatments that could significantly slow or halt the progression of the disease, said Dr. Robert Brown, chair of neurology at UMass Medical School in Worcester.

“The most exciting, high-risk, high-gain projects are often funded by private agencies like the ALS Association rather than the federal government,” Brown added. About 28 percent of funds donated to the ALS Association are used for research grants, according to spokesperson Carrie Munk, that go through a peer review process. Research priorities include learning more about genetics, biomarkers that predict the disease or how it’s progressing, stem cell treatments, and potential new drugs.

Brown’s research has focused on genetic discoveries, and he’s been experimenting with gene therapy in mice and monkey studies to silence the SOD1 gene mutation, which he helped discover two decades ago. It’s thought to be responsible for 20 percent of the hereditary cases of ALS, though that’s still a small percentage of total cases since more than 90 percent of ALS patients do not have the hereditary form.

“If all goes well, we hope to try the gene therapy in ALS patients in the fall of 2015,” Brown said.

He’s also following up on a study performed by Emory University researchers last year demonstrating that stem cell transplants could reverse paralysis in a handful of ALS patients, at least temporarily. The patients also received drugs to suppress their immune system, and Brown is now conducting a trial to determine whether these immunosuppressant drugs, rather than the stem cells, provided benefits to patients.

In another trial, Brown is coordinating with Dr. James Berry, co-director of the ALS clinic at Massachusetts General Hospital, to recruit about 45 patients to participate in a clinical trial using an experimental Israeli drug made from stem cells. “The hope is that these stem cells will secrete proteins that will create a much better environment for the neurons,” Berry said, “helping to protect those that are still functioning well and possibly repair those that are deteriorating.”

Two drugs already on the market are being tested in larger clinical trials to slow the progression of ALS: Retigabine, an antiseizure drug, and mexiletine, used to treat irregular heartbeats. Both work similar to riluzole (Rilutek), the only drug approved by the FDA to alter the course of ALS. It was found to extend patients’ lives by two to three months. “Riluzole has a modest effect, and we’re hoping these two other drugs offer more benefits,” Berry said.

More than likely, Berry and other researchers acknowledge, the most promising treatments for ALS have yet to be discovered and will result from basic research efforts — perhaps through surprising findings made in labs that weren’t pursuing ALS treatments.

For example, the ALS gene discoveries of the past five years wouldn’t have been possible without data generated by scientists undertaking the giant human genome project, pointed out Avital Rodal, a Brandeis University neuroscientist studying ALS mutations in fruit flies.

Her colleague, Brandeis ALS researcher Suzanne Paradis, agrees. “The bottom line is that there are so many ideas for ALS treatments that all look really exciting, but it’s not a good plan to put all the eggs in one basket. We need money to put eggs into all the baskets.”