It is a rare disease, but devastating for those who suffer from it and for their families. The spinal muscular atrophy (SMA) It affects one between every 6,000 and 10,000 people and a decade ago the appearance of new generation medications made it possible to change its prognosis, which for the most severe patients was death. But these medicines are very expensive. Now, the development of a first therapy locally would allow them to be significantly cheaper.
SMA is a neurosystemic disease that attacks the motor neurons in the spinal cord, which communicate with voluntary muscles. This “failure” in communication results in babies with SMA having difficulty communicating. perform basic things like swallowing or breathingand of course problems with their mobility.
Its cause is in the SMN1 genewhich affects the levels of SMN protein, which sends orders to the muscles to move. People have a gene for back upSMN2, but depending on the copies you have of this second gene, it will be the type of SMA.
In SMA 1, the most common, its progression is relentless. Without treatment, children with SMA 1 do not live more than two years.
In 2016, the US FDA approved nusinersen, the first modifying therapy for this disease, and three years later it was authorized by the ANMAT. It was then known by the commercial name Spinrazabecame famous as “the most expensive medicine in the world” and sparked debates over access. In 2019, the FDA approved an even more expensive one, onasemnogene abeparvovec (also better known by its brand name, Zolgensma), which is the first gene therapyand last year a third medication, risdiplam (Evrysdi).
How are all these therapies different? The gene is applied only once and replaces the missing SMN1 gene. It is the one from Santiago Maratea’s collection for Emmita and it was the first drug to enter into a shared risk agreement (the State pays only for results) in the case of children under 9 months.
Nusinersen and risdiplam, on the other hand, act on SMN2 to stimulate it and increase the production of the SMN protein. They are also high-cost medications.
This week, Gador National Laboratory announced the launch of the first formulation produced in the country of nusinersen. “It represents an important step towards the comprehensive treatment of SMA in the country, offering greater accessibility,” he noted in a statement.
In response to the query of Clarioncompany sources estimated that the national drug will be up to 30% cheaper than the imported one available until now. They also noted that they have already had “conversations with some health subsectors” regarding future purchase agreements.
Mariel Centurión, head of Familias AME, the NGO that brings together relatives of children with SMA, commented that 230 patients are currently being treated with nusinersen. Regarding this launch, he noted that they are asking for “guarantees that the similar one is really safe, efficient and effective as the reference since there is no protocol for patients, and the expectation of what the follow-up and reporting of possible adverse effects will be like.”
From Gador they highlighted the advanced technological platform that was used for the production of this medicine and stated that they carried out comparability studies indicated by international regulations and that “no difference was found with respect to the other alternative that is on the market. Therefore the molecules are Comparable in quality, safety and effectiveness”.
The “generic” nusinersen (in Argentina that expression is used to refer to drugs that are a copy of an original patent) is called Ligonux. Regarding Spinraza, Clarion was able to find out that the reference value is $38,000 per dose. The treatment is four doses in the first two months, and then one dose every four months, for life.
The claim for neonatal screening
Neurologist Mariela Lucero is head of the Child Neurology Service and coordinator of the Neuromuscular Diseases Task Force at the Sor María Ludovica Hospital in La Plata. He explains that none of the treatments available so far cure SMA, but emphasizes that nusinersen is the medication with which they have the most experience as it was the first to be approved, and that the results are shocking. “We see, in general terms, that children do not die”graphic, forceful.
What medication does is slow the progression of the disease and must be complemented with standards of care that include kinesiology, monitoring of respiratory function and nutrition in a multidisciplinary approach. But if treatment is started early, he points out, “you can even gain some motor milestones. “A baby with SMA 1 who was not going to hold his head up, in some cases manages to sit up alone, something unthinkable.”
The thing is Treatment of SMA is a race against time. For this reason, both specialists and AME Families have been insistently demanding the inclusion of this disease in neonatal screening. This Wednesday, the project to include SMA in Law 26,279 (which establishes the detection and treatment of pathologies in newborns) obtained the approval of the Health Commission of the Chamber of Senators of the Nation.
Symptoms to pay attention to
Regarding the coverage of nusinersen, Lucero explains that there is a commission dependent on the Ministry of Health that works on high-cost treatments and that this managed to reduce judicialization. But he emphasizes the importance of access being “equal and federal” and insists on the importance of neonatal screening for treat these babies as soon as they are born.
“We medicate them being symptomatic. So the kids grow up with their illness, they have some disabilities but we give them a better quality of life. At 6 months it is no longer an early diagnosis, because babies have many symptoms,” warns Lucero.
What are those symptoms to pay attention to before six months? Weakness in muscle tone, low head control, progressive weakness of the swallowing muscles, weak crying and/or cough, difficulty moving the legs (they remain in a “frog-leg” position) and accelerated abdominal breathing. It must also be taken into account if there are family members, even distant ones, with the disease, because transmission is genetic.
