In Massachusetts General Hospital’s laboratories and exam rooms, ALS researchers are in a race against time.
They are striving for a cure for a disease whose root causes remain largely unknown. Scientists are working against steep odds, but the tools they rely on include vast improvements in technology and a large array of willing test subjects: ALS patients themselves.
ALS isn’t a new disease, its symptoms have been described in medical notes since the 1880s.
But for many years, progress was painstakingly slow; it took more than 100 years after the disease was described for its first medical breakthrough. That came when researchers isolated the SOD1 gene, which they traced to genetic forms of the disease.
“Every time you discover a gene it’s one step forward,” said Massachusetts General neurologist Nazem Atassi, who is Concord High School Principal Gene Connolly’s doctor.
The past few years have seen an explosion of ALS research, in part due to a resurgence of awareness that came from the Ice Bucket Challenge and the corresponding money raised for research. In fact, $77 million raised through the Ice Bucket Challenge went to hospitals across the country, including Massachusetts General, to fund different projects.
“The funding for these projects is what allows any of these scientific ideas to move forward,” said Dr. James Berry, unit chief at Massachusetts General’s ALS Interdisciplinary Clinic.
Last fall, Massachusetts General researchers teamed up with researchers at Johns Hopkins University in Baltimore, Cedars-Sinai Medical Center in Los Angeles and other sites for a project called Answer ALS, supported in part through Ice Bucket Challenge donations.
The project’s goal is to enroll 1,000 patients and study their brains, genes and motor neurons. From there, scientists hope to find therapies and medications for a cure, or at least make a considerable dent in the disease’s progression.
Researchers are collecting blood, cells and spinal fluid from ALS patients to build a vast database. They are on the lookout for any similarities, patterns or other clues to show how someone gets ALS and how the disease progresses.
“Almost anything you want to give off your body, we will take,” said Jennifer Scalia, associate site director at Massachusetts General’s Neurological Clinical Research Institute.
At the same time, they are collecting clinical information, interviewing patients about their symptoms to map out a larger picture of the disease.
Researchers at Massachusetts General are actively recruiting for about five clinical trials looking at inflammation in the brain, toxicity that damages motor neurons, gene therapy and muscles.
Some are drug trials, including a drug often used to treat epilepsy that researchers are studying to see if it calms “hyperexcitable neurons” thought to play a role in ALS. Another is a drug researchers are studying to see if it helps breathing and muscle fatigue.
Berry said advances in technology are important tools in the fight against ALS.
“What’s fundamentally different now is the technology we have, the tools that we have to do these studies,” Berry said. “Our ability to view this disease from many angles is multiple times what was before.”
One technology scientists use to study ALS is called CRISPR, a recent tool that edits DNA quickly, precisely and efficiently. While it used to take researchers thousands of hours to discover one gene linked to ALS, scientists across the country can now easily pool their data and search databases for the genes they are studying.
An equally important component of the research are the patients who participate in the studies. Many patients and their families drive long distances to be part of the research, long after the disease impairs their mobility.
The relationship between researcher and patient in the ALS community is strong, Scalia said.
Often, when observers learn about the research, “it’s not like anything they’ve seen before because our patients are in it with us,” she said.
Atassi is conducting a brain imaging study comparing the brains of people with ALS to those with normal brains, looking at inflammation and nerve damage.
Atassi is also the primary researcher in a project called TRACK ALS, which uses new imaging radiotracers developed by General Electric to study inflammation in the brains of 100 ALS patients and compare them to the brains of healthy participants.
Connolly has participated as a research subject since he received his diagnosis. Like many others, he is doing so with the knowledge there probably won’t be a cure in his lifetime.
Patients who sign up for clinical trials are often faced with a grim reality; the consent forms for the studies they participate say there’s no guarantee a study will help them directly. With the average lifespan for ALS patients ranging three to five years and no cure immediately in sight, the studies patients participate in will shed light on treatment for future generations.
Scientists have years of work to complete before they get any concrete answers about ALS. But they remain optimistic.
“There’s a lot of hope that comes from these studies that we offer,” Atassi said. “Hope for everybody else, for the field of patients with ALS.”
(Ella Nilsen can be reached at 369-3322, firstname.lastname@example.org or on Twitter @ella_nilsen.)