They approve a new therapy against a serious disease and request a study to detect it in babies

Until four years ago, babies born with the most severe type of

had a certain fate of death, in many cases no later than 24 months.

The appearance of the first drug to treat it, approved in Argentina in 2019,

.

But, in addition, a legal and economic battle for coverage.

In 2021, ANMAT authorized the marketing of a second, also revolutionary drug.

Now, it has just endorsed a third drug, which

.

And the novelty renews a claim: that neonatal research be expanded to find these patients sooner.

SMA is considered a rare disease.

According to data from Familias AME, there are

.

Each year, 23 children are diagnosed with SMA: an average of two per month.

The statistics are low, but the impact on those children, on those families, and on the health system is

.

"Among genetic diseases, SMA has the

," says Vanina Sánchez, president of Familias AME.

What is spinal muscular atrophy

This disease attacks

, which are the ones that communicate with voluntary muscles.

SMA patients have low levels of the protein SMN, which is essential for sending commands to muscles to move.

So, babies with SMA have difficulty walking, crawling, swallowing, breathing.

The disease, moreover, always progresses.

There are

, from 1 (the most severe and the one that half of the patients have) to 3 (the mildest).

There is a type 4, but many times it is not even diagnosed.

The key to the differences

.

“What defines SMA is

, SMN1.

Human beings have a backup gene , which is

, which in these cases does not work 100%.

Depending on the number of copies that the patient has of SMN2, it

, ”explains Javier Muntadas, child neurologist and head of Neuromuscular Pathology at the Italian Hospital in Buenos Aires.

Existing treatments have differences.

Recently, ANMAT has just approved

, which has similarities to

(better known by its trade name, Spinraza) which was the first drug approved for SMA.

These drugs are modifiers of SMN2 and work to stimulate it to increase production of the SMN protein.  

The third drug for these patients is

, also known by its brand name, Zolgensma.

Cataloged as "the most expensive drug in the world" (a title previously held by Spinraza), it is the

to be approved in Argentina: the treatment directly replaces the patient's missing SMN1. "It is a single application and it gives you a new copy of the SMN1 gene. The other options help the

backup gene to work better

," says Muntadas.

Zolgensma is the treatment for which Santiago Maratea campaigned in April 2021 and raised two million dollars to treat Emma Gamarra, a baby with SMA 1. And this drug was in the news again a few days ago, when the Ministry of Health signed

signed by Argentina with the laboratory that produces it

: the State will pay 15 million dollars for the treatment of 12 babies as long as the expected results are obtained.

In AME Families they received this agreement as a first step to advance in the coverage of these

, which imply a significant financial burden on the health system.

But they warn that it will not change the situation of all the other patients, who until now must prosecute the claim so that their social work, prepaid or the State itself covers the cost of the medication.

Emma Gamarra, the baby for whom Santiago Maratea raised two million dollars.

Photo File

And they demand something that the Argentine Federation of Rare Diseases (FADEPOF) has been promoting: that

, which has been in force by law since 2007 and determines the obligation of the study that, taking a drop of blood from the heel of the newborn, detects nine diseases.

From FADEPOF they state that it was

, and that there are already countries like Italy that investigate 40 diseases.

In the United States, with that droplet, more than 60 are sought.

Detecting this disease in a newborn is key so that they can access treatment

.

And also to define which is the best therapeutic option that fits each case.

Zolgensma is only authorized for SMA type 1 patients under two years of age and the joint risk agreement is for

age who meet certain clinical parameters.

For all other patients with SMA 1, 2, or 3, the indication is nusinersen or the newer risdiplam.

This medicine has an advantage that both specialists and AME Families point out: that it is the

.

This improves the so-called adherence to treatment because the patient can have it at home and does not need to go to a medical center to be injected.

"It does not require transfer, hospitalization, or an operating room or anesthesia for lumbar puncture," says Muradas, who also says that it is important that the patient or his caregivers are

.

Alberto Dubrovsky, director of the Department of Neurology of the Institute of Neurosciences and head of the Neuromuscular Diseases Unit of the Favaloro Foundation, adds that the oral route is useful for "many patients with SMA who are operated on for scoliosis and if they have bars or screws in your spine becomes

every four months.

What Sánchez highlights is that today the therapeutic options exist and that

of patients are important.

Vanina says that her 10-year-old son with SMA type 2 has been receiving nusinersen since he was five: “I don't want him to run, but it already has a lot of difference with how 10-year-old boys were when there was no treatment.

All these new therapies are breaking paradigms,

”.

SMA and neonatal screening

Dubrovsky points out that both in the cases with the two drugs that are already older and in the studies of the new one, it has been reported not only that

but also some cases in which there were improvements.

But he stresses that it

, precisely to avoid the appearance of symptoms.

“The

to detect SMA early because today we have three treatments available.

Later we will discuss which is the best for each case, ”she says.

Muradas says that if SMA were included in the neonatal screening, it would be the

because all the tests they do now are biochemical tests.

The PCR technique (the same with which Covid is detected) would be used at a cost that ranges from 6 to 10 dollars.

“It would also be necessary for the result of the investigation not to take 40 days, to be able to recheck it with a second test and

.

If he is a type 1 patient, after a month he will already be symptomatic ”, he warns.

Sánchez emphasizes that spending on a more exhaustive neonatal investigation that includes more pathologies in the long term has a cost-benefit.

"If the baby is treated from birth, all subsequent expenses will be avoided, which will be paid by both that family and whoever finances all the treatments that follow. In chronic diseases,

" ​​he concludes. .

ACE

look too

From 30 thousand to 2 million dollars: why are some drugs so expensive and how to get them

Shared risk: how is the novel agreement through which 12 children will access a medicine worth 2 million dollars