{"id":122689,"date":"2025-08-06T04:26:28","date_gmt":"2025-08-06T04:26:28","guid":{"rendered":"https:\/\/www.europesays.com\/us\/122689\/"},"modified":"2025-08-06T04:26:28","modified_gmt":"2025-08-06T04:26:28","slug":"hopeful-again-ahn-doctors-help-erie-woman-become-one-of-first-in-the-u-s-to-receive-newly-fda-approved-genetic-therapy-for-rare-form-of-als","status":"publish","type":"post","link":"https:\/\/www.europesays.com\/us\/122689\/","title":{"rendered":"\u2018Hopeful again\u2019: AHN doctors help Erie woman become one of first in the U.S. to receive newly FDA-approved genetic therapy for rare form of ALS"},"content":{"rendered":"

\"Rana\"<\/a>Sandeep Rana, MD, Contributed Photo<\/p>\n

Diane Zaczyk of Erie, Pennsylvania, is one of approximately 500 people in the United States living with an ultra-rare, inherited form of amyotrophic lateral sclerosis, better known as ALS or Lou Gehrig\u2019s Disease.<\/p>\n

But thanks to a new genetically targeted treatment now offered at Allegheny Health Network (AHN), Zaczyk has hope of halting the progression of the neurodegenerative disease.<\/p>\n

\u201cMy quality of life was declining. I couldn\u2019t depend on my left leg, and my hand had limited function,\u201d Zaczyk said. She was diagnosed with the genetically inherited form of ALS after experiencing months of fatigue and weakness in her left leg and hand.<\/p>\n

\u201cWhen I learned there was a treatment that could slow the disease, I felt hopeful again,\u201d she said. \u201cAnything that slows the progression and gives me more time is worth it. The AHN team has been incredible, so supportive and resourceful.\u201d\u00a0<\/p>\n

AHN neurologist\u00a0Sandeep Rana, MD,<\/a>\u00a0Director of the network\u2019s ALS Center, is among a handful of specialists with experience administering the new cutting-edge therapy, which targets patients with a specific genetic mutation.<\/p>\n

Called Qalsody (tofersen), the recently FDA-approved medication helps stabilize ALS deterioration and leads to \u201cmeaningful preservation of function and suggestions of sustained improvement in neurologic function in some patients,\u201d according to research published in the\u00a0Annals of Clinical and Translational Neurology<\/a>.<\/p>\n

\u201cThis therapy validates the idea that gene-specific treatments for ALS are not only possible but can be effective,\u201d Dr. Rana said. \u201cIt paves the way for similar therapies targeting other mutations. We finally have momentum.\u201d\u00a0<\/p>\n

According to the CDC,\u00a0between 16,000 and 32,000 Americans are currently living with ALS<\/a>, a disease that diminishes motor function by killing the nerve cells that control voluntary muscles. Over time, ALS patients lose the ability to walk, talk, swallow and breathe normally.<\/p>\n

Most cases of ALS are considered sporadic, meaning they occur in patients with no known family history of ALS. The rest of the cases are known as familial ALS. Of those,\u00a0about 10-20%<\/a>\u00a0patients that have familial form of ALS, some have SOD1 (Superoxide Dismutase 1) mutation.Biogen\u2019s Qalsody<\/a>\u00a0is tailored specifically for ALS patients with the SOD1 mutation.<\/p>\n

Zaczyk began Qalsody treatment in March at AHN\u2019s Allegheny General Hospital and has completed five injections. To date, biomarker testing shows a promising decrease in\u00a0reduction of neuron degeneration.<\/p>\n

Qalsody, which is injected directly into the spinal canal, is the first and only approved treatment to target a genetic cause of ALS.<\/p>\n

\u201cThis is a major breakthrough in the treatment of ALS,\u201d Dr. Rana said. \u201cWhile 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\u2019re proud to be leading the way in offering this life-extending treatment.\u201d\u00a0<\/p>\n

Dr. Rana emphasized the importance of genetic testing in all ALS patients, as only those with the SOD1 mutation are eligible for this therapy.\u00a0<\/p>\n

\u201cWe now have a treatment that slows or even halts the disease\u2019s progression in certain patients,\u201d said Dr. Rana. \u201cThat is unprecedented in ALS care. While it doesn\u2019t reverse the damage already done, it helps stop the damage from getting worse. That\u2019s why early identification is key.\u201d\u00a0<\/p>\n

The AHN ALS Center offers comprehensive care for patients with neuromuscular disorders, leveraging nationally recognized specialists and a multidisciplinary team.<\/p>\n

Services include access to novel therapies, coordinated care and active participation in neuroscience research to improve the lives of those affected by ALS. The center also provides extensive support services, including mental health specialists and resources for home accessibility, to address the holistic needs of patients and their families.<\/p>\n

\u201cWe\u2019re not just delivering a drug, we\u2019re providing a full wraparound support system,\u201d said Dr. Rana. \u201cFor patients like Diane, who meet the criteria, this treatment is more than a scientific milestone, it\u2019s a lifeline.\u201d\u00a0<\/p>\n

The ALS Center is recognized as a Certified Treatment Center of Excellence by the ALS Association, the only program in western Pennsylvania to earn this designation.\u00a0\u00a0<\/p>\n

For more information about the ALS Center at Allegheny Health Network, please visit their\u00a0website<\/a>\u00a0or call 412-359-8850.\u00a0<\/p>\n","protected":false},"excerpt":{"rendered":"Sandeep Rana, MD, Contributed Photo Diane Zaczyk of Erie, Pennsylvania, is one of approximately 500 people in the…\n","protected":false},"author":3,"featured_media":122690,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[26],"tags":[815,159,67,132,68],"class_list":{"0":"post-122689","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-genetics","8":"tag-genetics","9":"tag-science","10":"tag-united-states","11":"tag-unitedstates","12":"tag-us"},"share_on_mastodon":{"url":"https:\/\/pubeurope.com\/@us\/114979929189999085","error":""},"_links":{"self":[{"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/posts\/122689","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/users\/3"}],"replies":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/comments?post=122689"}],"version-history":[{"count":0,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/posts\/122689\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/media\/122690"}],"wp:attachment":[{"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/media?parent=122689"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/categories?post=122689"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/tags?post=122689"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}