ALS Research and Care: What Can We Look Forward To?

In recognition of ALS Awareness Month, the Muscular Dystrophy Association (MDA) recently hosted a Facebook Live event where MDA Medical Consultant Matthew Harms, MD, provided updates on amyotrophic lateral sclerosis (ALS) research and care. Harms, who is an associate professor of neurology at Columbia, is on the front lines of both the clinic and research environments as he provides care to patients with ALS and furthers his exploration of the genetics roots of neuromuscular diseases.

During the event, Harms discussed the latest research endeavors in the ALS community, the status of telemedicine use in ALS clinics, and the role of the multidisciplinary care team in caring for patients with the degenerative neuromuscular disease.

What is on the horizon for amyotrophic lateral sclerosis (ALS) research?

Matthew B. Harms, MD: This is a very hopeful time in ALS research. We are testing more drugs than ever and are doing so at a faster pace than ever before. There are currently more than 130 active clinical trials on ClinicalTrials.gov. Many of these are interventional—that is, trials in which active drug therapy is involved. Other types of research that yield tremendous advances in ALS are in the categories of biomarker and genomic discovery. These types of research do not involve active therapy, but they do advance our understanding of ALS. Biomarkers are objective medical signs used to measure the presence or progress of disease, or the effects of a treatment. Biomarker studies may look at the blood, spinal fluid, urine, etc. to identify markers of when the disease may begin or when it advances. Biomarkers can also track responses to drugs. The other type of study is genomics research, where we look in the genomes of people to find the genes that cause or contribute to the development of ALS. We can take these genes into the lab and either try to mimic what it is doing if they are preventative or block the action if it is a gene that, when mutated, goes on to cause disease.

What is the role of patient registries in helping move ALS research forward?

A registry is a database of people who have a certain condition. Registries are very powerful because using advanced computer learning technologies allows us to look for patterns among the patients in the registry. The data helps us predict what will occur for a patient at points in the future and learn what a patient may need from us as a clinic. Registries also help us design faster, more efficient drug trials and identify specific groups of patients who meet the qualifications for a given trial.

For ALS, here are two examples of registries:

• National ALS Registry: The CDC maintains the National ALS Registry, a program to collect, manage and analyze data about persons with ALS. This is currently the largest ALS registry in the country.
• MOVR (neuroMuscular ObserVational Research) Data Hub: MOVR gathers medical and genetic data through MDA’s network of Care Centers from patients who agree to share their anonymized information. This large dataset provides researchers with insights into how drugs and other treatments affect outcomes, how clinical trials could be better designed, and how neuromuscular disease affects people the same or differently. It also helps doctors quickly identify patients who may benefit from new therapies or who may want to participate in a clinical trial.

What does the future of telemedicine look like in ALS? Will it continue to play a role in ALS care and research?

Although the pandemic did not give us much of a choice in transitioning to telemedicine, in our clinic we have found that everyone—patients, families, caregivers, and healthcare professionals—has benefitted enormously from the change. We have found that telemedicine is a very effective way of carrying out a clinical visit. Telemedicine allows us to deliver care more efficiently while saving the greenhouse gas emissions associated with traveling back and forth to clinic appointments. Of course not everything that we need to accomplish can take place over telemedicine; some aspects of the physical exam require in-person visits. For that reason we will never be able to eliminate in-person care completely. However, we will continue with telemedicine visits for quite a few of the things that come up in ALS. Telemedicine can also help make clinical trials more accessible for patients.

Why is multidisciplinary care so important for people living with ALS?

It has been proven that multidisciplinary care can help patients with ALS live longer and have a better quality of life as they wrestle with their disease. In addition, every patient is unique, requiring a unique combination of medications and supplemental care to meet their individual needs. Multidisciplinary care enables us to provide this personalized care. Having a team of people with their own perspectives on patient care is also extremely helpful.

There are many certified MDA ALS Care Centers providing multidisciplinary care, and those of us in the network can learn from each other and implement best practices across clinics. As an example, when the pandemic began and we needed to transition to telemedicine, we learned that some MDA clinics were already using telemedicine in their clinical care. MDA immediately organized a meeting for all clinical care directors so that those of us who were not using telemedicine could learn best practices from those who were. This enabled us to roll out telemedicine in the MDA care network much more quickly than would have been possible otherwise. As we share information, patients benefit.

Research can be viewed as an important component of multidisciplinary care. For many people with ALS, traveling to clinics is difficult enough for care; having to make extra visits to participate in clinical trials can be burdensome. Most clinics are working to integrate clinical trial visits into multidisciplinary care visits.

How can we speed up the diagnosis of ALS?

Early diagnosis of ALS is very important. Once symptoms are obvious enough that a non-neurologist might make the diagnosis, quite a lot of damage may already have occurred. Since everyone agrees that therapy will be more successful the earlier it is started it is important to diagnose and treat ALS as early as possible.

The issue with early diagnosis of ALS is two-fold. For one thing, ALS is not that common. So primary care physicians, ENTs, orthopedists, and the like may not recognize the symptoms at the beginning of the disease. We need to educate our physician colleagues so that they consider a diagnosis of ALS earlier in the process and then refer appropriate patients to neurologists. It is also important to learn if there is a genetic cause for ALS early in the disease. Those of us in the field are moving toward earlier and more broad genetic testing for the genes that cause ALS. That is because some of the molecular therapies being developed are moving through clinical trials at an advanced rate and they may be available as part of a trial, or maybe even as a therapy for appropriate patients.