Health will finance the first gene therapy for Spinal Muscular Atrophy, the most expensive treatment in the world

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The headline is absolutely true and must be given as information, but now that I have your attention, let's not let a good headline prevent us from seeing what is really important: Health has approved the financing of a medicine that allows children with a disease that in their state more serious was a death sentence. In fact, it

. The treatment is called

and it is really priceless insofar as it prevents them from dying and gives them a better quality of life.

To understand how it works, you have to explain what

. It is a disease considered rare that affects the motor neurons of the spinal cord and is caused by

, necessary for these motor neurons to function properly and with them our muscles do not weaken and atrophy . The main gene that produces it is SMN1 and there is a complementary gene SMN2 that produces it in smaller quantities. Without at least one of them it is impossible for us to live since those motor neurons die.

, the main one, and the severity of the disease depends on the copies they have of the complementary gene.

"It is clearly a disabling disease. The four fundamental points that these patients manifest are

: they cannot sit, stand, walk, sometimes or hold their head ...;

, which in very severe cases severe causes death;

because they cannot swallow properly and need to be fed with a nasogastric tube or gastric button to get food; and

, for example, scoliosis (deviation of the spine) is one of the most frequent complications, especially in patients who can sit down ", explains Dr. Eduardo Tizzano, director of the Area of ​​Clinical and Molecular Genetics at Hospital Vall d'Hebron (Barcelona).

SMA type 1 is the most serious and manifests within a few weeks to a

few months, according to Tizzano. The loss of motor neurons begins shortly before birth and increases rapidly, with a majority loss at 6 months of age. If left untreated, it leads to death or the need for permanent ventilation after two years (more than 90% of cases). In

symptoms appear between 6 and 18 months of age, some can sit or walk, but they lose these capacities over the years. In

symptoms can appear from early childhood to early adulthood and they have difficulties walking, going up and down stairs and their legs are more affected than their arms.

"The disease

and half of them are serious cases, for these it can be said that this disease is a death sentence.

, although it is difficult to say because serious cases they are known immediately and of the less serious some can appear at the age of 20 or 30, they are less frequent forms but they do occur, and sometimes very specific differential diagnoses must be made ", indicates Tizzano.

The gene therapy treatment with Zolgensma, from the pharmaceutical company Novartis, whose active principle is onasemnogene abeparvovec, has been included for funding within the National Health System (SNS) since this December 1

. It is estimated that it will benefit about 30 children per year.

It is a viral vector therapy. "The missing gene joins a carrier virus that has lost its infective capacity but crosses cells very well. An intravenous injection is applied and is distributed throughout the body, it has the characteristic that it passes the blood-brain barrier (which protects the circulation of the nervous system) and reaches the spinal cord. That viral vector that carries the gene penetrates the motor neurons and there it remains

"says Tizzano.

The Vall d'Hebron specialist emphasizes that when the therapy is administered, the protein is produced and some patients "can sit up, stand up, some take some steps, some have even walked throughout these years of treatment."

, "but they all evolve doing things that we have never seen them do. I had never seen children who manifest the disease in the first weeks of life who could then sit up or stand up and with therapy this is achieved. "

For best results, treatment

. Once symptoms begin, therapy helps but is not as effective, although it achieves important changes. "In the long term, taking into account that it is a medication that is given only once, we do not know if in 10 or 15 years it will still be effective, perhaps in the future we will have to do supplementation or see if it is necessary or not to administer other types of therapies ", adds Tizzano.

The Vall d'Hebron specialist uses

. "An asymptomatic child is like when a child is on a slide, on top, before jumping. If we apply gene therapy, which would be his mother who grabs him and prevents him from jumping, then the child does not fall (his evolution is very similar to that of a child without SMA), but if the child throws himself down the slide and we then apply therapy, we brake him and leave him at that point, he does not go down the entire slide, but does not go up to the point of departure".

To treat patients as soon as possible

. It is an effective genetic test that detects SMA in 95% of cases, but, and here comes the incongruity,

, so it is difficult to identify these babies presymptomatic for which this therapy has supposedly been approved. "A part of that approval right now is empty of application. A presymptomatic patient only detects the disease with a genetic analysis and this is not being carried out, so

, it is not a real access to treatment ", claims Mencía de Lemus, president of the Fundación Atroofia Muscular Espinal (Fundame).

The Zolgensma treatment from Novartis laboratories THE WORLD

Dr. Tizzano is a member of a European alliance to implement this

neonatal

in Europe.

"We are working on what is called SMA Europe, we have made an appeal and a guide so that all European Ministries of Health decide to implement this neonatal screening.

. It is one thing that is coming down and the authorities are likely to reflect on it in the near future. In the US, 80% of the children who are born undergo this neonatal screening, it depends on in which states. In Europe in some countries: Belgium has launched it now, Germany has it and in countries like Italy and Poland they are implemented more regionally. In Spain they have begun to carry out pilot studies and in the coming months we will hopefully have news that will allow us to apply the therapy in the most effective way possible ".

Despite that, De Lemus acknowledges the good news. "It is fantastic that there is a therapeutic option for SMA. It is the second now, this is a gene therapy, which means that you do not have to be on a recurring basis going to medication, but you put it on once and it does. its effect, and it has given very good results in clinical trials, which completely changes the course of the disease.

. " The president of Fundame adds that a few years ago "it was unthinkable that doctors who are treating patients with SMA could make decisions in the best interest of the patient with two treatments on the table. It is an important day today and

".

That other already existing treatment that De Lemus mentions is nusinersen and it was approved in 2018 in Spain under the trade name Spinraza. Dr. Tizzano explains that this therapy "with a

of oligonucleotide that is given intrathecally, that is, it is applied as a lumbar puncture through the cerebrospinal fluid and reaches the nervous system, it does not cross the blood-brain barrier, so it is not It can be given by vein or orally, this medication must be repeated permanently ".

In addition to newborn screening, De Lemus regrets another aspect. "With this Health approval, not all patients who suffer SMA and could benefit from this treatment, according to the evaluation made by the European Medicines Agency (EMA), will be able to do it in Spain and we are very concerned". The president of Fundame intuits that the decision has to do with the

.

"The difficult thing, what seemed like a miracle that would never come, which are the treatments, comes and it turns out that because of things that could be avoidable we find ourselves as we do, with a pharmaceutical company that puts an absolutely exorbitant price for a treatment and health authorities that consider that not all patients can be treated at this price and then you have to choose ".

According to the criteria of The Trust Project

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