At Mass General, last summer's Ice Bucket Challenge has generated fresh opportunities for ALS researchers to develop new treatments and search for a cure.
Merit Cudkowicz, MD, chief of Neurology
Merit Cudkowicz, MD, chief of Neurology at Mass General, says scientific knowledge about ALS is “exploding.”

Last summer’s Ice Bucket Challenge (IBC) did more than raise a dramatic $115 million for research on amyotrophic lateral sclerosis, or ALS, around the nation, including at Massachusetts General Hospital. It also provided new hope for the 30,000 Americans living with ALS, such as Mass General patient Pete Frates, whose efforts spurred the social media frenzy.

Two and half years ago, Pete, a former captain of the Boston College baseball team, was shocked when doctors diagnosed him with this disease associated with baseball legend Lou Gehrig. Then 27, he was also troubled to find out that, more than 70 years after Gehrig’s death, there still was no definitive treatment.

With time against them, Pete and his family brought their message for more research funding to Congress, and to the public via the Ice Bucket Challenge and his blog. “We are so grateful for the increased awareness and donations,” Pete says by email. “But the fight goes on until the treatment and cure is found, so that no other person and their family have to endure this horrific diagnosis.”

Testing New ALS Ideas

Time is of the essence for people with ALS because the illness progresses over a few years. As motor neurons necessary to control muscle movements die, patients need assistance to move, breathe, swallow and speak. Pete now must use a wheelchair to move and an eye-tracking device to communicate. Amidst this struggle, however, he and his wife had their first baby, Lucy, in August 2014.

Funds from the Ice Bucket Challenge are “allowing us to start clinical trials to test new ideas that we had planned, but were held up by lack of funding,” says Dr. Cudkowicz.

Mass General researchers say the increased awareness and funding is coming at a perfect time. “Scientific knowledge about this disease is exploding,” says Merit Cudkowicz, MD, MSc, chief of Neurology at Mass General. Dr. Cudkowicz is also director of the hospital’s ALS Multidisciplinary Clinic, and founder and co-director of the Northeast ALS Consortium (NEALS), over 100 academic sites that collaborate on ALS research.

Funds from the Ice Bucket Challenge are “allowing us to start clinical trials to test new ideas that we had planned, but were held up by lack of funding,” says Dr. Cudkowicz, who is also Pete’s physician.

Toward a Quicker Diagnosis

The challenge has also stimulated other generosity. Another Mass General patient family helped establish a new group, ALS Accelerated Therapeutics (ALS ACT), which Dr. Cudkowicz is co-leading. Through ALS ACT, she and other NEALS researchers will collaborate with General Electric Healthcare on developing new neuro-imaging tools to visualize the effects of the disease in the brain and spinal cord. They then will identify which effects are key biomarkers of the disease. Biomarkers will enable a quicker diagnosis of ALS and faster methods to see if a new treatment is working.

There is only one approved treatment—which in some ALS patients somewhat slows ALS progression–but much has been learned in the process of finding better ones, Dr. Cudkowicz points out. Scientists have discovered that there are several types of ALS, which is probably why treating everyone with the same drug hasn’t worked. Some people with ALS, such as physicist Stephen Hawking, live decades, but others only a year. In some people, the disease starts in one of their limbs, and in others it starts in muscles involved in speech and breathing. Finding biomarkers of the various types will help individualize treatment.

The ultimate goal is a cure, but in the meantime, Dr. Cudkowicz predicts that within the next five to ten years, “we’ll turn ALS into a chronic disease, one that is controlled with a cocktail of drugs, much like living with hypertension.”

A Place of Hope

Mass General’s ALS Multidisciplinary Clinic is one of the largest clinics and most active ALS research sites in the country.

Mass General’s ALS Multidisciplinary Clinic is one of the largest clinics and most active ALS research sites in the country. Mass General is currently leading or participating in more than 20 clinical ALS trials. These include studies using stem cells re-programmed into healthy motor neurons, gene therapy trials of drugs that shut down genetic mutations causing the inherited types of the disease, and testing drugs like retigabine, discovered by Mass General’s Brian Wainger, MD, PhD, to normalize the abnormal firing of motor neurons.

The Ice Bucket Challenge was a “shot of adrenaline for our patients and their families,” says James Berry, MD, unit chief of Mass General’s ALS Multidisciplinary Clinic. It has created hope and a feeling of connection among those with the disease, he says. He and the other clinician/researchers are equally committed to providing the best quality of life possible for their patients through existing medications, therapies and care.

“We want our clinic to be a place for hope,” he says.

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