ALS stands for amyotrophic lateral sclerosis and is an incurable disease. The disease breaks down the nerve cells in the brain and spinal cord and most people who are affected die within a few years. But a new gene therapy may slow the course of the disease for patients with a certain inherited variant of ALS. This applies to the approximately 6 percent of ALS patients where the disease is due to a mutation in the SOD1 gene.
One of the patients who has been helped by the new gene therapy is a Swedish man in his 30s. Four years after his diagnosis, thanks to the gene therapy, he can walk stairs, speak and lead an active life.
Peter Andersen, senior physician in neurology and professor at the Department of Clinical Science at Umeå University.
Bild: Mattias Pettersson
– It is a breakthrough that shows that it is possible to produce a drug that very clearly slows down the development of the disease, says Peter Andersen, senior physician in neurology and professor at the department of clinical science at Umeå University.
He has researched ALS for over 30 years and contributed to the development of the new gene therapy. Among other things, he has mapped Swedish families with the hereditary mutation in the SOD1 gene and acted as an advisor for the pharmaceutical company Biogen, which developed the new treatment.
The mutation causes the protein of the same name to clump together. The gene therapy prevents the faulty protein from forming by blocking the messenger molecule m-rna that would otherwise instruct the cell to make SOD1.
Several of the man’s relatives have died of ALS
The man belongs to one of the mapped families and several of his relatives have died of ALS.
– When he got the first symptoms in April 2020, we made sure that he was allowed to come here to Umeå and we were able to diagnose him with ALS at an early stage, says Peter Andersen, who also made sure that the man was allowed to join a clinical study of the the new gene therapy.
The drug, with the active substance tofersen, is given as an injection into the spine every four weeks. Peter Andersen describes the effect on the Swedish man as sensational.
– The prognosis was that he would live at best for two years, so he has fared better than expected.
As an indicator of the degree of nerve damage, the biomarker neurofilament is used. At diagnosis, the man had a level of 11,000.
– It is high even for an ALS patient and shows a very aggressive disease process. Now four years later, the neurofilament content in the spinal fluid is a low 1,200–1,290, which can be compared to the normal value for a person of this age being less than 560. All examinations show that the development of the disease is clearly slowing down, says Peter Andersen.
The Swedish man is not the only ALS patient with SOD1 mutation who has been helped by the gene therapy. The result of the clinical trial shows that the course of the disease was also slowed down in other participants.
According to Peter Andersen, the effect is likely to be better the earlier the treatment is started. In a new clinical study, treatment is also given to healthy people who carry the faulty SOD1 gene but where the disease has not yet broken out. The study, which will run until 2031, is the first to study whether ALS can be prevented or delayed.
In February, a positive statement about tofersen came from the European Medicines Agency, EMA. The drug has already been approved in the USA under the name Qalsody.
Experts want to wait with the medicine
Pending approval in Europe, doctors can prescribe Qalsody under license through an “early access” program. In Sweden, however, the regions’ joint body for the national introduction of new therapies, the NT Council, recommended that Qalsody should not be issued on a license before a “further assessment” has been made.
Peter Andersen is critical of the NT Council’s recommendation and wants all patients with the SOD1 variant of ALS to have access to the medicine immediately.
– The results are so good that I consider it unethical not to give the medicine to the patients as is done in Germany and many other countries in Europe. Swedish patients should be given the same chance.
More similar gene therapies are under development that also target ALS patients with other underlying genetic causes. However, the treatments can only slow down the disease, which requires lifelong treatment.
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