Around 800 people in Poland are diagnosed with amyotrophic lateral sclerosis (ALS) every year. The rare, rapidly progressive neurodegenerative disease gradually deprives patients of mobility, speech, the ability to eat independently and, eventually, the ability to breathe without support.
For a small group of patients, a disease-modifying therapy is now available. However, access depends on confirming a mutation in the SOD1 gene through genetic testing. Experts say the most urgent challenge is reducing diagnostic delays and ensuring that patients and their families receive comprehensive support.
“ALS often begins very subtly. At first, patients may experience minor trips, difficulty holding objects, or weakness in one arm or leg, symptoms that are frequently ignored,” said Ewa Waksmundzka of the Dignitas Dolentium Association in comments to Newseria. “Over time, the disease can lead to complete paralysis of the limbs, problems with speech, mobility and even breathing.”
ALS is a rare, debilitating and fast-progressing condition. Like spinal muscular atrophy, it belongs to the group of neurodegenerative diseases. It damages and destroys motor neurons in the brain and spinal cord, disrupting the nerve signals responsible for voluntary movement.
At present, the only reimbursed disease-modifying treatment for ALS in Poland is tofersen, the first therapy worldwide designed specifically for patients with an SOD1 gene mutation. The treatment has been available under Poland’s drug programme B.176 since October 2025 and is most effective when introduced early in the course of the disease.
“ALS remains incurable today, but we are seeing major progress in medicine,” Waksmundzka said. “Since last year, we have had a reimbursed medicine for a group of around 100 people with an SOD1 mutation. It does not cure the disease, but it can significantly slow its progression or even stop it. We hope that the discovery of this treatment will soon lead to further therapies for other mutations, and eventually to treatment for all ALS patients.”
The first symptoms of ALS can vary widely and are easily confused with other conditions. Early signs may include difficulty performing precise hand movements, weakness in the limbs, speech problems or difficulty swallowing. This non-specific pattern often means that reaching the correct diagnosis can take many months, or even years.
The SOD1 mutation accounts for only a proportion of ALS cases. Around 90% of cases are believed to be sporadic, while approximately 10% are familial. Researchers have identified about 40 genes associated with the disease, with the most common mutations involving C9orf72, TARDBP, FUS and SOD1.
“With the first targeted therapy now available for ALS patients, every patient should undergo genetic testing and at least have the SOD1 gene examined,” said Dr Magdalena Badura-Stronka of Poznań University of Medical Sciences. “Ideally, more genes should also be tested, because we expect additional therapies to emerge.”
Experts stress that SOD1 mutations can occur in both familial and sporadic ALS. Genetic testing should therefore be performed in all patients, regardless of family history, age or general health condition.
An estimated 3,000 people are currently living with ALS in Poland. Around 100 of them are believed to have an SOD1 mutation and may be eligible for treatment with tofersen.
“The treatment does not reverse what has already happened, but it can prevent further damage,” Waksmundzka said. “That is why rapid diagnosis is so important. At present, diagnosis can take up to a year, while patients may then wait additional months for genetic test results. Accelerating both diagnosis and genetic testing is now a priority.”
Although the introduction of the first targeted treatment has created new opportunities, substantial challenges remain. Most patients do not have an SOD1 mutation and currently have no access to a comparable disease-modifying therapy.
“I hope that, given that commercial space travel is already possible, we will also see faster progress in ALS treatment in the coming years,” said Dr Badura-Stronka. “Patients in Poland develop the disease between the ages of 18 and 80, and around 800 new cases are diagnosed every year. We need to speak about them, support them in this fight and also support their extremely courageous families.”
As ALS progresses, patients may lose the ability to walk, speak and breathe independently. They require not only medical treatment, but also rehabilitation, multidisciplinary care and expensive equipment supporting breathing and nutrition. In practice, much of the daily burden of care falls on relatives and close family members.
“There are many patients who do not have an SOD1 mutation but other genetic forms of the disease. They need specialist equipment and carers,” said Monika Partyka, a patient supported by the Dignitas Dolentium Association. “Families also sometimes want to function normally, for example by going to the cinema, but they may not have that opportunity. The association helps with specialist equipment and also provides psychological support, which is very important.”
To draw attention to the needs of people living with ALS and their families, the Dignitas Dolentium Association organised the “800 Flags for ALS” campaign in Poznań. Each blue flag represented a specific person living with ALS or someone who had died from the disease.
The installation was intended to show that behind the statistics are real people and individual stories.
“Walking through this installation is deeply moving because there are names here of people I know from the association,” Waksmundzka said. “I know what problems they come to us with, and I know that some of them are no longer with us. That makes me especially pleased that the campaign received such a positive response from patients and their families.”
The “800 Flags for ALS” initiative, organised to mark World ALS Day, was held in Poland for the first time. It was inspired by a similar annual installation created in Washington, D.C. by the US organisation I AM ALS.
The organisers said the project was intended not only to commemorate people living with ALS and those who have died from the disease, but also to underline the need for faster diagnosis and comprehensive care for patients and their families.
