Screening for SMA in the newborn screening programme

stopy noworodek stokrotka koc

Ten post jest także dostępny w języku: polski

On 18 February 2021, the Minister of Health signed a decision to introduce an updated newborn screening programme for 2019-2022 in Poland, which will include testing for spinal muscular atrophy (SMA).

50 lives a year wins normality

The Transparency Council gave a positive opinion on the changes to the “Programme of newborn screening tests in the Poland for the years 2019-2022”, provided that the diagnosed patients are provided with appropriate therapy, while controlling the increase in expenditure of the public payer, informed in a letter from AOTMiT of 8 February 2021. The result of this decision is a change in the newborn screening programme. Accordingly, newborn screening will include testing for SMA.

The programme describes the methodology for screening for SMA. It indicates the specifications of the tests to be used. The first screening test for SMA is to be an RT-PCR test followed by confirmation of the result with the MLPA test. After screening (RT-PCR and MLPA) and a positive result in both tests, patients will be referred to an SMA treatment centre where the results of previous tests will be verified again.

Currently, SMA treatment in Poland is provided with the drug nusinersen (Spinraza), a drug reimbursed from January 2019. The SMA Foundation in Poland reports that starting treatment with nusinersen before the onset of SMA symptoms can prevent them in most cases.

Hope in treating SMA

It is worth noting that as of May 2020, another drug, ZolgenSMA, is conditionally approved in the European Union for the treatment of people with clinical symptoms of the first form of SMA and for people with no more than three copies of the SMN2 gene regardless of the form of SMA. ZolgenSMA is the world’s most expensive drug at around $2.1m per dose, we wrote more about this here.

The SMA Foundation states that: “to the best of our available knowledge, outside the United States, the drug Zolgensma is reimbursed by the public healthcare system in the following countries: Austria (with annual limit and restrictions), Brazil (as per registration indication), Czech Republic (with restrictions), France (with restrictions), Israel (as per registration indication), Japan, Qatar (as per registration indication but only for Qatari citizens), Germany (with restrictions), Slovakia (with restrictions), Switzerland (with restrictions, on an early access basis), Italy (with restrictions).”

As of 1 January 2020, there were more than 720 people on the Polish SMA Register. Annually, the number of SMA cases diagnosed in Poland is estimated at 40-45, of which approximately 80% of cases are detected in infancy.

Source: SMA Foundation/AOTMiT

Similar Posts

One Comment

  1. What a great joy in my heart to share this to the entire public on how Dr Osato cure me from herpes1&2 with his herbs, I never believe it will work because the doctors keep saying there is no cure but I was desperate and needed to get this thing out of my body. I saw a comment online testifying how Dr Osato cure her from herpes and hpv and i contact Dr Osato and explain my problem to him and he prepare the cure and send it to me through UPS,which i use it just the way He instructed me and thank God today am a beneficiary to these cure. I went to my doctor for a checkup after 14days of taking the herbs and I did a blood test which i tested Herpes1&2 Negative and my doctor booked me for another appointment after 4 weeks to confirm my result and i retested again after 4 weeks and my result was still Negative and my doctor assured me that the virus is completely gone from my system. So I will tell you all who are looking for a cure to his/her HIV/AIDS and HERPES that Dr Osato took research before he could finally get the solution to it and a lot of people are benefiting from him right now. He also cured my Uncle and his wife from HPV. Dr Osato heals with natural herbs. Please i urge you to contact him now through his email address: or WhatsApp him on +2347051705853. His website is and he is capable of curing HIV/AIDS, HERPES, HPV, HSV1&2, COLD SORE, CANCER of all kinds,DIABETES and so many other infections.

Leave a Reply

Your email address will not be published. Required fields are marked *