Prof. Katarzyna Kotulska-Jóźwiak, head of the Department of Neurology and Epileptology at the Institute – Children’s Memorial Health Institute in Warsaw.
- Spinal Muscular Atrophy (SMA) is a genetic disease where the motor neurons of the spinal cord are lost, leading to muscle weakness and wasting
- There are three main clinical forms of SMA: infantile form (Werdnig-Hoffmann disease), intermediate form and juvenile form (Kugelberg-Welander disease. Occasionally there is a fourth type of disease that occurs in adults).
- The disease occurs with a frequency of 1 in 6-8 thousand. cases
- More current information can be found on the Onet homepage.
Medexpress: How many people in Poland are treated with nusinersen and are all patients benefiting from this treatment?
Prof. Katarzyna Kotulska-Jóźwiak: At the moment, there are 780 patients undergoing treatment who started treatment at different times. Not all of us are able to assess the effectiveness of treatment today, because we do it about the first year after starting therapy. But among patients who have been treated long enough, not one of them has been excluded from treatment due to ineffectiveness. And the ineffectiveness in a drug program is defined very clearly, which enables us to judge categorically. We assume that the drug is effective if there is no deterioration in younger patients and in more advanced states of the disease. However, in the case of elderly patients, in better functional states, we allow a slight deterioration. These are two points on a 66-point scale. If the deterioration was greater, we would consider the drug ineffective.
Do we ensure that nusinersen reaches the place where the disease develops by administering nusinersen directly to the nervous system?
The drug is supposed to reach the motor cells in the spinal cord. And there’s evidence that nusinersen actually gets there, increasing the production of a protein called survivin, a protein necessary for the survival of motor neurons in the very cells that need it.
- Examination for SMA. Find out if your child has spinal muscular atrophy
We know that the best effects of this treatment are obtained by administering the therapy presymptomatic. What do clinical trials say about this?
We currently have the results of a study on the effectiveness of nusinersen called Nurture. This study included 25 children with genetically confirmed disease but no symptoms at the time of study screening. These were patients who had two or three copies of the SMN2 gene, which is at enormous risk of developing a very severe and early form of spinal muscular atrophy. Indeed, the drug administered in this way is the most effective. But the concept of treating very early does not only apply to nusinersen, because the other therapies currently approved for spinal muscular atrophy are also expected to be most effective in presymptomatic administration.
And what therapies, apart from nusinersen, are registered in Europe?
We currently have three therapies to change the natural history of spinal muscular atrophy. Two drugs increase the production of the SMN protein by the SMN2 gene, ie nusinersen and risdiplam, and one therapy that delivers the correct copy of the SMN1 gene with a viral vector, ie onasemnogene abeparvovec. These drugs are already registered and more are in clinical trials. And it is not only drugs that alter the natural course of the disease by affecting the SMN protein itself, but also in clinical trials there are drugs that affect the muscles themselves, which is the most visible part of the affected body. These are drugs that increase the force of muscle contraction, which were supposed to complement therapies affecting the motor neurons.
- There will be screening of Polish newborns for SMA. «This is news of the year!»
Can we talk about the effectiveness of treatment over time in the case of nusinersen?
Yes, but that requires a two-pronged view. First, we see the most effects and the fastest effects when the drug is given early. The second issue is what we can expect in a long period of time. When it comes to symptomatic patients (because it concerns them), you can actually wait for the effects of treatment. There are patients whose first obvious symptoms, which we can document with appropriate tests, are after two years of treatment, or even longer. This is more difficult to apply to presymptomatic patients. If they are developing according to the development calendar, it is difficult to improve as much as possible. But maintaining this effect is also very important. And we also have evidence that this effect persists over time.
What is the current SMA screening process in Poland?
This is the most rewarding part of the changes that we are participating in – introducing genetic, molecular testing for SMA into the screening program in Poland. At the moment, the program is being implemented and the plan is to cover all newborns born in Poland by the end of next year. At the moment, we are including voivodship by voivodship in the program (we have already covered 5 voivodeships). This year, we want to test a total of over 140. newborns.
- What is the treatment for spinal muscular atrophy?
How will screening change the outlook for SMA treatment?
This is the biggest change. We know from clinical trials (including our own observations, because we have children in Poland who started treatment before the onset of the disease symptoms, these were children from families with the disease, where one child was already sick and therefore prenatal tests were performed for the other child) that it is a very effective treatment. Not only that, it is a treatment that can ensure a completely normal development of a child. A patient who is in front of symptoms will be asymptomatic at the time of treatment. And this is what we wish for the group of symptomatic patients to be as small as possible.
SMA, or spinal muscular atrophy, is a genetically determined neuromuscular disease. Early diagnosis is very important.
At Medonet Market you will find the genetic screening of newborns and children for SMA.
Read also:
- The five most dangerous diseases in children. It is because of them that they most often die
- Rare diseases – a review of selected disease entities
- Wolf-Hirschhorn syndrome – causes, symptoms, diagnosis, treatment
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