In a significant breakthrough for Motor Neuron Disease (MND) treatment, the gene therapy drug tofersen is showing remarkable results in slowing—and potentially halting—disease progression in patients with the SOD1 genetic mutation, one of the most common forms of familial MND.
Developed by biotechnology company Biogen, tofersen represents the first therapy to offer genuine hope for patients with this devastating condition. The drug works by targeting the specific genetic mutation in the SOD1 gene, which accounts for approximately 10% of inherited MND cases.
Clinical Evidence Shows Promising Results
Professor Dominic Rowe, Director of Macquarie University MND Research and leader of the Australian arm of the global ATLAS trial, describes tofersen as "the golden fleece of treatments" based on observed outcomes.
"Our prime goal here is to either slow the disease to delay its onset or stop the progression so that people never have to get it," Professor Rowe stated. "The results we are seeing give me real hope that one day we are going to beat it."
Four symptomatic patients at Macquarie University's MQ Health MND Clinic are currently receiving monthly tofersen infusions, with results suggesting the treatment can significantly slow disease progression. More promising still, evidence indicates that when treatment begins before symptom onset, the disease may be halted entirely.
The ATLAS Trial: Treating Before Symptoms Appear
The ATLAS clinical trial, running since 2022, takes a preventative approach by treating individuals who carry the SOD1 gene mutation but have not yet developed symptoms. Participants begin receiving monthly infusions when their blood levels of neurofilament—a protein that leaks from damaged neurons—rise above a predetermined threshold, indicating the disease process has begun.
Rebecca Rouco, a 32-year-old mother from Western Sydney participating in the trial, has remained symptom-free despite her neurofilament levels reaching the threshold just two months after joining. Having lost her father, aunt, and grandfather to MND, Rouco made the difficult decision to undergo genetic testing when planning to have children.
"It was such a blessing to have him," Rouco said of her son, who was conceived through IVF with genetic screening to ensure he wouldn't inherit the mutation. "I realized I wanted to live to see him grow up."
Administration Challenges Create Access Barriers
Despite tofersen's promise, its administration presents significant challenges. The drug must be delivered directly into the spinal fluid via monthly lumbar punctures performed by medical professionals in a clinical setting.
While Biogen provides the drug at no cost through its Extended Access Programme, the MND Association reports that approximately 10 people with SOD1 MND in the UK currently cannot access the treatment due to NHS capacity constraints. The costs associated with trained staff, clinic time, and support services have created barriers even though the drug itself is free.
"Tofersen gives not just a glimmer of hope to people with SOD1 MND, but a future. It is the difference between life and death," the MND Association emphasized. "The drug itself costs nothing at the moment—yet we risk people dying for want of the NHS not being able to pay for the cost of administering it."
The Treatment Experience
For patients like Rouco, the treatment regimen is demanding but worthwhile. She has already undergone 35 lumbar punctures and faces many more in her future. The procedure is necessary because gene therapies often need to be introduced directly into the spinal fluid to cross the blood-brain barrier, which protects the brain from toxins but also blocks potentially life-saving medications.
Professor Rowe credits the expert team at MQ Health with making the process as comfortable as possible. "Trials like this are made possible by our highly skilled radiologists, who can perform the lumbar puncture quickly and painlessly, using advanced imaging technology to ensure that it goes in precisely the right spot every time," he explained.
Looking Toward Broader Availability
Advocates are hopeful that tofersen will complete the necessary regulatory processes and become widely available on healthcare systems worldwide. The MND Association has alerted Biogen to the access issues, and the company has confirmed its willingness to continue providing tofersen to any clinician who requires it for a person with SOD1 MND.
While the ATLAS trial is now full, symptomatic patients with the SOD1 variant of MND can start on tofersen therapy at any time, provided they can access the necessary medical support for administration.
For a disease that typically claims lives within two to five years of diagnosis and currently affects approximately 800 Australians annually, tofersen represents a potential turning point in treatment—offering not just extended survival, but the possibility of preventing symptom onset altogether in those identified early through genetic testing.
