MIAMI – The FDA’s recent accelerated approval of a drug to treat a genetic variant of ALS is not only helping patients diagnosed with the disease, it could be used to slow or even stop the progression before symptoms first appear.
Piecing together the fabric of her family history, Amanda Sifford wasn’t totally surprised when she was diagnosed with ALS in the spring of 2023.
Fifteen members of her family have died from the disease that attacks the nerve cells responsible for controlling voluntary muscles.
“I have problems in my legs, my calves and my hands, but breathing and the diaphragm is what it’s affected the most and that’s the most substantial,” Sifford said.
Sifford has a version of the SOD1 mutation of ALS, a genetic form of the disease which was the target of the recently approved drug Tofersen.
“And the hope is that this will lead a path for other genetic forms and hopefully to non-genetic forms of the disease,” said Dr. Michael Benatar, Executive Director of the ALS Center at UHealth.
Benatar is leading a clinical trial called ATLAS, which is investigating early intervention with Tofersen in patients who carry the genetic mutation but are not yet symptomatic.
“So if we know you carry a gene, could we intervene before the disease appears and maybe prevent it? So that’s been a major focus of what we’ve been pursuing and a big part of that is developing these things called biomarkers that can tell us when somebody is likely to develop disease,” Benatar said.
Sifford’s diagnosis came just a month before the FDA’s accelerated approval of Tofersen.
“If this had happened six months earlier, I would have had a death sentence. Just flat out, two, three years if I was lucky,” she said.
After three treatments, now she has hope.
“It would be nice to be able to just walk around the block without huffing or puffing,” Sifford said.
The ATLAS trial is looking to enroll approximately 150 people with the SOD1 gene mutation, which affects about two percent of all patients with ALS.
For more information about the ATLAS clinical trial, go to: https://clinicaltrials.gov/ct2/show/NCT04856982 or visit http://www.atlasstudy.com/.