ALS, drug approved in the United States for those with the SOD1 gene mutation (120 people in Italy) – breaking latest news

There is good news for a small group of patients with Amyotrophic lateral sclerosis (ALS) who have the SOD1 gene mutation: the American regulatory authority Food and drug administration (Fda) has authorized the placing on the market of the drug tofersen. It could be the prelude to the approval of the new molecule also in Europe by the EMA- European Medicines Agency (then of Aifa-Italian Medicines Agency).

Experimental drug

In Italy, for some years, patients with this genetic mutation can access the investigational drug through the compassionate use program (Who the rule governing the therapeutic use of medicines undergoing clinical trials): the neurologist can request access to the drug for patients with ALS-SOD1, regardless of the progression of the disease. According to the estimates of Aisla, Italian Amyotrophic Lateral Sclerosis Associationin our country on about 120 people who have this genetic mutation, just under half has early access to the drug through the compassionate use program, also because many are unaware that they have the SOD1 mutation. Hence the importance of being able to do the genetic test.

Expert commentary

«The approval of the drug by the FDA is one good news but it should be noted that it affects only those patients who have the SOD1 gene mutation, or about 2 percent of all people suffering from ALS – said Professor Mario Sabatelli, president of the Aisla medical-scientific commission and clinical director of the NeMO Adult Center at the Gemelli Polyclinic in Rome, where about twenty patients are receiving treatment under the compassionate use program – . The scientific community is convinced of this: it is the first time, in the history of this diseasethat there is a molecule that actually works, though still not the solution as some patients respond well to treatment, others do not. However, – continues the neurologist expert in motor neuron diseases – theauthorization to the placing on the market by a regulatory body such as the FDA – albeit in a manner conditioning as more results on the efficacy of the molecule will be needed – it is a fundamental stepnot only bureaucratic but a warranty seal that this is the right way”.

The beginnings of a breakthrough

This is the first ALS treatment approved based on a biomarker. Professor Sabatelli explains: «For the first time, in evaluating the efficacy of a drug, some laboratory tests are also considered giving importance to the dosage of some blood proteins called “neurofilaments”, which are the so-called surrogate marker, an indirect indicator of a possible effectiveness. The fact that the FDA approved the drug based on this evaluation is important news since ALS is one difficult and complex diseasedifferent from the others» underlines the expert.
Pathology is progressive, does not stop. «He runs, he runs too much – says Sabatelli -. In almost 35 years that I have been dealing with ALS the first time I see the disease stop, although not in all patients that we are treating at our Center with the drug administered for compassionate use. We haven’t solved the problem because not all people with this mutation respond well, and then we need to continue research for the remaining 98 percent of patients who have no therapy. But the hope is that there is a “domino effect”, that we arrive at other therapeutic possibilities for all patients and to defeat this devastating disease» underlines the neurologist.

About six thousand sick people in Italy

In Italy they are approx sixthousand people living with amyotrophic lateral sclerosis, a rare neurodegenerative disease that paralyzes the muscles but leaves the mind clear, characterized by the progressive loss of function of motor neurons, the nerve cells in the brain and spinal cord that allow voluntary muscle movements. It means progressively lose the ability to move, speak, breathe independently, swallowuntil you have to live put on a respiratorfeed through a tube inserted into the stomach (Peg), communicate with others through the eye pointer. P
for the patient community the approval of the drug by the US regulatory body is a sign of hope in the research that goes on.

Genetic testing required

Now that there is a concrete possibility of a cure for ALS patients with the SOD1 mutation, the green light is expected from the EMA for the approval of the drug in Europe as well. Furthermore, as the national president of Aisla Fulvia Massimelli explains: «It is necessary to guarantee the possibility of access genetic testing and be able to have i results in a short time. The data that the scientific community has made available, in fact, say that the essential condition for the drug to be effective is that of intervene as early as possible».