Breakthrough for patients diagnosed with ALS

Fewer than 500 people in the United States have a genetic mutation linked to their case of ALS.

Researchers have studied this gene and developed a drug to counteract its impact, marking a significant finding for this progressive and fatal disease.

Amanda Sifford is among the few with a genetically inherited form of ALS.

With more than a dozen cases in her family, they participated in a study that led to the drug Qalsody.

• RELATED: Cape Coral woman finds hope with new ALS drug

“That’s when they were actually looking for the biomarkers so that they could develop the treatment,” said Sifford.

The drug is the first of its kind for ALS. It targets the SOD-1 gene, which, when mutated, triggers a protein that attacks nerve cells.

“It makes it actually toxic, and it kills the neuron,” said Dr. Nathan Carberry, assistant professor of neurology at the University of Miami.

Dr. Carberry is part of Sifford’s care team at the University of Miami. He is involved in a study testing family members of ALS patients to see if they have the gene and, if they do, using the drug.

“We’re checking a biomarker to see when they’re at greatest risk of basically converting to ALS, and then we start the medication, and we’re hoping that that will either prevent ALS from occurring, or it will dramatically improve their prognosis,” said Carberry.

A study released in January found some patients on this drug, including Sifford, actually improved, offering hope to all ALS patients.

“The learnings from this treatment, I think will hopefully impact the sporadic ALS group, which is 85% of those that have ALS don’t have a gene that we can point at,” said Carberry.

The University of Miami is enrolling people in the study to see if the drug works to prevent the disease in those with the genetic mutation. It is also one of the largest sites in the country offering this treatment.