Treating amyotrophic lateral sclerosis (ALS) was a challenge well before 1939 when baseball player Lou Gehrig brought global attention to the nervous system disease. But with exciting new momentum in research and clinical trials for ALS, physician-scientists are hopeful about current and future treatments.
“We are at a turning point because we have a greater awareness of ALS, more funding and research, and more treatments in development than ever before,” says Sabrina Paganoni, MD, PhD, a Mass General Brigham physical medicine and rehabilitation specialist.
Dr. Paganoni leads clinical trials at the Sean M. Healey and AMG Center for ALS at Massachusetts General Hospital. She highlights a few exciting developments in ALS research across Mass General Brigham.
ALS affects motor neurons, nerve cells that control the muscles responsible for how you move, swallow, and breathe. ALS is a progressive disease, meaning symptoms get worse over time.
In most cases, doctors don’t know what causes ALS. Researchers have identified more than 40 gene mutations linked to the condition, but only about 10% of people with ALS have one of these gene changes.
Understanding the reasons why some people get ALS is a key research focus that will eventually help doctors stop it before it starts, says Dr. Paganoni. Researchers are also looking for ways to help patients and their families navigate symptoms.
Most ALS research aims to:
To accelerate the discovery of new treatments for ALS, Mass General Brigham launched the HEALEY ALS Platform Trial in 2020. Led by chief of Neurology at Massachusetts General Hospital Merit Cudkowicz, MD, MSc, and Dr. Paganoni, the trial is coordinated by the Healey and AMG Center and designed in partnership with the Northeast ALS (NEALS) Consortium. Patients can participate at more than 70 sites throughout the United States, including leading academic medical centers and community practices.
So far, more than 1,300 people have participated in the platform trial and seven drugs were evaluated. This collaborative effort with research partners from the industry, non-profit foundations, and patient groups has already helped move two promising drugs to the next phase of testing.
In addition to the HEALEY ALS Platform Trial, several ALS clinical trials and research studies at Mass General are enrolling participants. These studies hope to:
The Accelerating Access to Critical Therapies for ALS Act of 2021 established a national clinical research consortium in 2023. ALL ALS is led by James Berry, MD, MPH, in collaboration with Suma Babu, MD, MPH, MBBS, and Dr. Paganoni, along with investigators at three other academic medical centers. The consortium collects and organizes samples and data from people with ALS and people at increased genetic risk for ALS.
“The goal of the consortium is to develop the largest data set and biosample repository from people living with ALS. This will lead to many discoveries,” says Dr. Paganoni.
Leigh Hochberg, MD, PhD, director of the Center for Neurotechnology and Neurorecovery at Massachusetts General Hospital, is director of the BrainGate Consortium and clinical trials.
BrainGate is trying to determine if a device implanted in the brain can help people with ALS control assistive devices with thought. The technology is targeted to people who have lost the use of their limbs, including those with neurologic diseases such as ALS and beyond.
“This is the right time to engage with ALS research. Clinical trials and research studies can give people with ALS the best possible tools to fight the disease now. Your collaboration also will help develop more treatments in the future,” says Dr. Paganoni.
Start by talking to your doctor, who can offer guidance about the most appropriate research options for your circumstances. For more details about research opportunities and updates about treatment options at Mass General Brigham:
Working together, the outlook for ALS treatment is hopeful, says Dr. Paganoni.
“We need to keep the momentum going, with more funding, more initiatives, and continued participation from the ALS patient community, so that we can make progress together.”