ALS, the US approves the first drug for those with the genetic mutation
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Following the encouraging results from the phase 3 VALOR clinical trial and its open label extension (OLE), which have been discussed in recent months, the US Food and Drug Administration (FDA) has decided to approve, through an accelerated procedure, the marketing authorization application for tofersen. This is the first drug that appears to be able to slow down the clinical progression of Amyotrophic Lateral Sclerosis (ALS) in patients with the rare SOD1 mutation, and which can now be marketed in the United States.
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The SOD1 mutation
SOD1 stands for Superoxide Dismutase 1, and the mutation of the gene that codes for the production of this protein affects about 2% of the estimated 168,000 cases of ALS globally. A rare form, therefore, of a disease that is already rare in itself. Currently, the average life expectancy for people with this mutation is extremely variable and in some cases does not exceed a year: the FDA decision is therefore an important step for these patients.
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Approved in the USA with an accelerated procedure
The accelerated procedure provides that, in order to definitively confirm the approval of tofersen, the company that produces it (Biogen) must verify its benefits through a further clinical study, currently underway. This is the phase 3 ATLAS study, which aims to establish whether the drug is able to prevent the onset of clinical manifestations in presymptomatic individuals, i.e. those who have the SOD1 mutation and high plasma levels of light chain neurofilaments (NfL, proteins released into the blood or cerebrospinal fluid in the event of neuroaxonal damage and neurodegeneration, considered as biomarkers of disease activity), but who do not currently show signs or symptoms attributable to ALS. In the Phase 3 VALOR study and its open-label extension, early treatment with tofersen reduced declines in clinical, respiratory, motor function, and quality of life. The results had been published in the New England Journal of Medicine.
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Waiting for EU response
“Today is a good day for the history of our disease – he comments Mario Sabatelli, president of the Medical-Scientific Commission of AISLA and clinical director of the adult area of the NeMO Center at the Gemelli Polyclinic in Rome – is not only a bureaucratic fact but represents a fundamental step to allow access to the drug to a greater number of patients “. The hope of the patient community is that the work of the European Medicines Agency (EMA) will also be accelerated, which accepted Biogen’s application in December 2022: now we have to wait for an answer.
The early access program for over 100 Italian patients
For people with ALS in Italy, the early access program – compassionate use has been active since October 2021 (regulated by the ministerial decree of 7 September 2017 “Regulation of the therapeutic use of medicinal products subjected to clinical trials”). On the basis of this decree, explains the association, every neurologist can request access to the experimental drug for their ALS patients with a mutation in the SOD1 gene, regardless of disease progression. It is estimated that in our country there are about 120 people with the ALS-SOD1 mutation and since early access to the drug was opened, just under half of them have been treated (30 of whom at the NeMO Clinical Centres).
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Ensure genetic testing for all patients
One of the main reasons, AISLA explains again, is that many do not know they have the SOD1 mutation: “It is necessary to guarantee the possibility for all people with ALS to access the genetic test and, a fundamental aspect, to have results in a short time – concludes Fulvia Massimilli, national president of AISLA – The data that the scientific community has made available tell us, in fact, that the essential condition for the drug to be effective is to intervene as early as possible”.
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