Elena Meli
The new guidelines for the treatment of amyotrophic lateral sclerosis. Tofersen, a drug for the (few) cases with genetic causes, will soon be approved
Twelve years after the previous ones The new guidelines for the treatment of amyotrophic lateral sclerosis arrive or ALS, drawn up by the European Academy of Neurology together with the European Network of Rare Diseases. The announcement marks a moment in which some positive news is starting to arrive for this neurological pathology, from riluzole in a new formulation which simplifies therapy by improving the quality of life of patients to a first positive opinion from the Committee for the human use of medicines of the European Medicines Agency for tofersena specific drug for a genetic form of ALS.
Easier therapy that melts on the tongue
The guidelines, drawn up with a significant Italian contribution, will be an updated reference for the management of a very complex disease, which varies from case to case but causes disabling and progressive symptoms, which are difficult to manage. This is also why the arrival of a new formulation for riluzole, the only drug approved to date, is positive news: the active ingredient, previously available in tablets or syrup, can now be taken in the form of films to dissolve on the tongue, without the need for water or any effort by the patient to swallow. Considering that over 50 percent of patients have to crush the tablets and that doing so can reduce the quantity of drug taken by up to 42 percent, also decreasing the effectiveness of the treatment, being able to follow the therapy without any effort is a great advantage and as explains Adriano Chiò, director of Neurology 1 of the University Hospital Città della Salute e della Scienza of Turin, «The difficulty in swallowing, or dysphagia, affects the lives of people with ALS because in addition to the psychological and social repercussions of no longer being able to eat as in the past, it also affects adherence to treatment. Data from a survey conducted on European patients, including some Italians, reveal how in approximately seven out of ten cases, difficulty swallowing led to giving up or delaying taking daily therapy.” Being able to take it more easily, right from the early stages of the disease, helps to maintain greater autonomy for longer and to derive the maximum benefits from the treatment.
Genetic testing
New perspectives may then open up for people with the mutation of the SOD1 gene, a rare form of ALS which affects 2-5 percent of patients (120-150 cases in Italy): at the end of February the Committee for the human use of medicines of the European Medicines Agency has expressed a favorable opinion on tofersen, an innovative drug that prevents the synthesis of the mutated SOD1 protein. Already approved by the Food and Drug Administration, it will also have to be given the green light in Europe and Italy but it marks a first step towards therapies that can combat ALS, although this treatment can only be offered to a small share of patients who carry the specific mutation. To find out if you are, you need a genetic test, provided by the National Health Service and free for patients. Unfortunately, specialized centers are few and distributed unevenly, so the Italian Amyotrophic Lateral Sclerosis Association (ISOLATE) with president Fulvia Massimelli underlined that «it is essential that every patient has the opportunity to know their possible genetic mutation and to be able to access treatment promptly. We need to promote closer collaboration between genetics laboratories and specialized centers, in order to reduce waiting times for genetic tests.” AISLA has also launched a survey to evaluate the accessibility to genetic tests, territorial inequalities and waiting times for resultsall elements that can compromise the effectiveness of the treatment, for which compassionate use is envisaged.
Guidelines for the management of the disease
Meanwhile, the new guidelines constitute an important reference for the management of the disease also in light of the latest news and as concluded by Vincenzo Silani, director of the Department of Neuroscience of the IRCCS Istituto Auxologico Italiano – Centro Dino Ferrari of the University of Milan, «The appearance of guidelines dedicated to ALS in 2024 seems to want to close the circle opened from the indication to the approval of the European authorities for treatment with the antisense oligonucleotide tofersen for ALS patients with a mutation in the SOD1 gene: since the discovery of the gene in 1993 over 30 years of intense pre-clinical research have passed which has now led to effective therapeutic use in humans. An epochal step on the still complex path of treating this disease.”
March 28, 2024
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