Matthew B. Harms, MD, on the Necessity of Tracking Gene Mutations in ALS

The associate professor of neurology at Columbia University spoke about the importance of identifying patients with ALS-associated gene mutations as early as possible.

“I think additional funding and additional efforts to very closely identify and then follow people who are carrying ALS gene mutations is another unmet need. There are a few relatively small studies; we've basically calculated that maybe only 10% of presymptomatic gene carriers have had testing and are being followed at this point in observational studies. And that needs to change. We need to have far more individuals being followed in that fashion.”

With several gene therapies currently in development for the treatment of amyotrophic lateral sclerosis (ALS), the identification of causative gene mutations for ALS and the tracking of patients who carry these mutations is an area of emerging interest. To date, more than 40 genes have been identified to have a relationship with ALS, with 4 key genes—C9orf72, SOD1, TARDBP, and FUS—accounting for up to 70% of familial ALS cases.1

Matthew B. Harms, MD, associate professor of neurology at Columbia University, and medical consultant and care center director for the Muscular Dystrophy Association (MDA), chaired a session entitled “Gene Therapy in ALS” at the Muscular Dystrophy Association (MDA) Clinical & Scientific Conference, held in Dallas, Texas, March 19-22, 2023.

In an interview with CGTLive™, Harms spoke about current challenges and unmet needs in the ALS treatment space that he would like to see get more attention. He noted that experts in the field are generally unified in the opinion that earlier treatment for patients with ALS is likely to be more effective than treating the disease in its later stages. Harms pointed out that it is thus important to diagnose patients earlier, and that this effort should extend to identifying people who are presymptomatic but carry gene mutations that are likely to cause ALS.

Harms also touched on his thoughts on the MDA conference in general, drawing a positive comparison between the gathering of experts in different neuromuscular diseases and the sharing of knowledge in a multigenerational household.

Read more coverage of the 2023 MDA Conference here.

Editor’s Note: Harms disclosed that he has board memberships in the Northeast ALS Consortium and Muscular Dystrophy Association. He also disclosed consultancies or paid advisory boards for Biogen and Ionis; grants/research funding pending for Biogen, Ionis, and UniQure; and grants received/research funding for Biogen and Ionis.

ALS Genes and Mutations. ALS Association. Accessed March 30, 2023.
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