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A significant breakthrough in amyotrophic lateral sclerosis (ALS) research has emerged from Umeå University, where scientists reported a substantial deceleration in disease progression for a patient with an exceptionally aggressive form of ALS, thanks to a novel gene therapy.

Peter Andersen, a neurologist and professor at the Department of Clinical Sciences at Umeå University, expressed profound enthusiasm for the breakthrough, noting its unparalleled effectiveness in their three-decade-long research endeavor.

"An important discovery is that it is now possible to considerably reduce the levels of the disease-causing SOD1 protein, and simultaneously measure a clear inhibitory effect on further disease progression," Andersen said, Neuroscience News reported.

The patient, hailing from southern Sweden and afflicted with a familial ALS variant triggered by a SOD1 gene mutation, demonstrated an extraordinary response to the experimental gene therapy. Despite initial prognosis indicating a survival timeline of merely 1.5-2 years post-diagnosis, the patient, after four years on the medication, exhibits remarkable functional capabilities, including the ability to climb stairs, maintain speech clarity, and engage in daily activities.

At the time of diagnosis in 2020, the patient exhibited markedly elevated levels of neurofilament L, a biomarker signaling nerve cell degradation. The gene therapy, administered every four weeks at a university hospital in Copenhagen, Denmark, effectively curbed the progression of ALS, reducing the levels of disease-related biomarkers by nearly 90%.

"When the patient was diagnosed at University Hospital of Northern Sweden in April 2020, we measured the level of neurofilament L to be as high as 11,000 nanograms per liter, which is high even for an ALS patient," Andersen explained.

"In the most recent sample, after 50 injections of the new drug, the level is down to 1,200 to 1,290, which is a substantial decrease of the disease indicator."

"The normal level for a person in the patient's age group is below 560. In blood, the level of neurofilament has fallen back to normal levels, and was down to 12 during the latest hospital visit. The normal level is less than 13."

Notably, the patient's functional level, as measured by the ALSFRSR scale, has remained relatively stable, underscoring the therapy's potential to impede the rapid degeneration typically associated with this aggressive ALS subtype.

Karin Forsberg, a neurologist and longtime ALS researcher, pointed out the transformative impact of this drug treatment, emphasizing its role in instilling hope among ALS patients and researchers alike. While acknowledging the therapy's limitation as a curative measure, Forsberg emphasizes the critical importance of continued research and the exploration of combination therapies to maximize therapeutic efficacy.

"Our next step is to study the results from the patients receiving this drug. It has worked for some, but not all have seen the same positive effect. It could be a question of dosage, or at which disease stage the treatment was initiated," Forsberg said.

"Maybe additional drugs are required to completely stop the process? Those are questions we now have to try and answer. This is only the beginning."

Despite the remarkable success observed in this case, the broader applicability of the gene therapy to diverse ALS subtypes remains uncertain, requiring further investigation. Andersen said there's a need for comprehensive research to elucidate optimal treatment strategies tailored to different ALS variants, envisioning a future where personalized medicine revolutionizes ALS management.

"The Swedish Ethical Review Authority approved participation in these studies and now, several years later, we, as well as ALS physicians in other participating countries, see a clear clinical effect on many treated patients," Andersen said.

"The next step will be to get approval from the Swedish Ethical Review Authority to study the compensatory mechanisms that treatment with this drug seems to have activated. There might be an opportunity here to get insights into how previously unknown parts of the nervous system work, and to develop even better new drugs."