It's been a year since the expanded SMA drug program went into effect. The experience gained during the past year confirms that the current program is one of the leading in Europe. One of its components is neonatal screening. A similar solution, which in practice would boil down to a so-called dry blood drop test, could also increase the detection of lysosomal diseases, such as Fabry disease and Pompe disease, among others. For the time being, such tests are performed in rather narrow groups of patients, and access to them is possible thanks to the involvement of pharmaceutical companies.
- We detect all cases of children who have inherited the genes that cause SMA. We can implement treatment in them right away. We also already have better organized centers, but most importantly - a whole portfolio of therapies. In addition to nusinersen, we also have gene therapy with Zolgensma, which, in its assumptions, causes a permanent cure. However, the use of this gene therapy is limited by the weight of the child, so it's an option for children with neonatal screening. We have another therapeutic option. This is an oral drug that can be administered when nusinersen therapy cannot be used," summarizes the operation of the SMA drug program by Professor Marcin Czech, a health care expert at the Mother and Child Institute.
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