What is Spinal Muscular Atrophy (SMA)?
SMA is a serious, progressive muscle disease that results in, among other things, severely reduced mobility, curvature of the spine, loss of arm and hand functions and paralysis of the respiratory muscles. It is a rare condition: an average of about twenty children with SMA are born in the Netherlands every year.
In the most serious cases, babies die in their first year of life. In less severe cases, patients become wheelchair bound and eventually die of complications such as lung infections. The disease mechanism is the same in children and adults. The variation in the clinical picture is very large.
It is not easy to see SMA without symptoms. They can be detected by looking at whether SMA occurs in other children of the same parents or with a heel prick.
What does Z Accordingma do?
Only limited research results are available, but so far they are promising. In an American study, for example, 22 babies received the Z accordma gene therapy. Twenty of them were still alive at 14 months and did not require respiratory support. If they hadn’t been there for them, it would have been impossible for a quarter of them to live without a permanent respirator. Fourteen of the babies who had Zaansma were able to sit independently for half a minute by the time they were eighteen months old. Untreated SMA patients have never shown this.
Another study of 29 infants with no symptoms who developed Z accordma can breathe on their own and sometimes even sit, stand and walk independently.
It UMC Utrecht may soon start treating some babies with gene therapy. The UMC has made agreements with the manufacturer to treat babies within an Early Access Program who meet various criteria, particularly in terms of age, condition and weight.
Why is Z Accordingma so expensive?
Z Accordingma is a product of the Swiss pharmaceutical company Novartis. The drug has such a high price tag because it entails substantial development and innovation costs, according to the pharmaceutical company. But Novartis also says it is looking at how much a country can afford and how much healthcare costs can be avoided by using Z Accordingma. Novartis states that this is the standard practice in the pharmaceutical world. So it does not seem illogical that such a high price is being asked. But for many countries, including the Netherlands, this is a reason to postpone approval of the drug.
The National Health Care Institute advises Minister Tamara van Ark for Medical Care to negotiate a lot about the price with Novartis, before Zjacentma is included in the basic package. Only after a price reduction of 50 percent can the drug be reimbursed. Marcel Timmen, director of Muscle Diseases Netherlands, is optimistic: “I think the minister and manufacturer will both benefit from this. There is also a chance that it will not work. But to my knowledge that has not yet been achieved when it comes to very rare innovative resources. ” If the medicine is ultimately reimbursed at half the price, it is possible that the whole of the Netherlands will have to pay a higher health insurance premium for it.
Are there no alternatives?
The only other available treatment for SMA is Spinraza. This drug stimulates the body to make a variant of the missing protein. Babies with the most severe form of SMA do not deteriorate further after treatment, but often show near normal development. The results are also positive in older children. For adults, the drug means – depending on their state of health – that they do not end up in a wheelchair, do not need to be ventilated and do not become completely paralyzed.
If Z Accordingma is eventually included in the basic package, it must be determined for each patient which medicine is most suitable.
Heel prick screening
SMA is added to the heel prick screening that tests newborns for hereditary disease. Its introduction will take a while, much to the disappointment of Muscle Diseases in the Netherlands and UMC Utrecht, among others.
“We really argue for the sooner the better. Every year about twenty children with SMA are born in the Netherlands. There are now treatments with which the child must start as soon as possible after birth to prevent irreversible serious damage to the nerves ”, says Inge Cuppen of the Wilhelmina Children’s Hospital. Because admission to the heel prick screening is delayed, dozens more children will be born in the coming years who are symptomless and therefore do not immediately receive the treatment they need.
By: Nationale Zorggids
Sources: RTL Nieuws, NOS, Muscle Diseases Netherlands, National Health Care Institute, UMC Utrecht
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