Diane Zaczyk, a resident of Erie, Pennsylvania, is among the first patients in the United States to receive a newly approved genetic therapy for an inherited form of amyotrophic lateral sclerosis (ALS). The treatment is being offered at Allegheny Health Network (AHN), where specialists are now administering Qalsody (tofersen), a medication developed for ALS patients with a specific SOD1 gene mutation.
Zaczyk, who was diagnosed after experiencing months of fatigue and weakness, shared her experience: “My quality of life was declining. I couldn’t depend on my left leg, and my hand had limited function.” She added, “When I learned there was a treatment that could slow the disease, I felt hopeful again. Anything that slows the progression and gives me more time is worth it. The AHN team has been incredible, so supportive and resourceful.”
Dr. Sandeep Rana, Director of AHN’s ALS Center, is one of the few specialists experienced in administering this new therapy. He explained that Qalsody targets patients with the SOD1 mutation and has shown promise in stabilizing ALS progression. Research published in the Annals of Clinical and Translational Neurology indicates that Qalsody can help preserve neurological function in some patients.
“This therapy validates the idea that gene-specific treatments for ALS are not only possible but can be effective,” Dr. Rana said. “It paves the way for similar therapies targeting other mutations. We finally have momentum.”
According to data from the Centers for Disease Control and Prevention (CDC), there are between 16,000 and 32,000 Americans living with ALS. Most cases are sporadic with no family history; however, about 10-20% of familial ALS cases are linked to mutations in the SOD1 gene. Qalsody is designed specifically for this group.
Zaczyk began receiving Qalsody injections at Allegheny General Hospital in March and has completed five doses so far. Biomarker testing has shown encouraging signs of reduced neuron degeneration.
Qalsody is injected directly into the spinal canal and is currently the only approved treatment aimed at a genetic cause of ALS.
“This is a major breakthrough in the treatment of ALS,” Dr. Rana said. “While it only applies to a small subset of ALS patients, it is a powerful first step toward targeted genetic therapies that could one day benefit a much wider group. We’re proud to be leading the way in offering this life-extending treatment.”
Dr. Rana stressed that genetic testing should be considered for all ALS patients since only those with the SOD1 mutation qualify for this therapy.
“We now have a treatment that slows or even halts the disease’s progression in certain patients,” said Dr. Rana. “That is unprecedented in ALS care. While it doesn’t reverse the damage already done, it helps stop the damage from getting worse. That’s why early identification is key.”
The AHN ALS Center provides comprehensive care through nationally recognized specialists and offers access to novel therapies as well as coordinated support services addressing both medical and personal needs.
“We’re not just delivering a drug, we’re providing a full wraparound support system,” said Dr. Rana. “For patients like Diane, who meet the criteria, this treatment is more than a scientific milestone, it’s a lifeline.”
The center holds recognition as a Certified Treatment Center of Excellence by the ALS Association—the only program with this designation in western Pennsylvania.
For further information about AHN’s ALS Center or its services, individuals can visit their website or call 412-359-8850.
