The therapy costs 40 thousand zlotys per week. "The amount to buy the medicine is unattainable"

Rett Syndrome affects about 500 girls in Poland. The only drug that can stop the progression of the disease and help survive until gene therapy is an oral solution of trofinetide, available only in the U.S. The amount needed to buy this drug in the United States for one person is PLN 40,000 per week.
The therapy is not yet registered in Europe - this will happen at the earliest in the first quarter of 2026. Until then, there is no possibility of financing it from public funds. The drug can be imported from the US, but at your own expense.
In drug programs, we currently have PLN 14 billion in the financial plan of the National Health Fund. If we calculate the average total cost of therapy with a drug containing trofinetide, which amounts to about PLN 11 million for one person, for 500 children, it will come to about PLN 5 billion. These values do not match at all - says Artur Fałek
Our system is not prepared to finance modern, very expensive therapies. Meanwhile, the scale of needs is enormous - he adds

Experts: Rare neurological diseases are a test of our system's efficiency

- We thought our child was healthy because she was developing properly. Then we received a devastating diagnosis - Rett Syndrome. For a year, our daughter has not spoken, walked, crawled, sat up, and cannot eat on her own. She requires 24-hour care - said Marcin Wolniewicz , father of 3-year-old Laura, at a meeting of the Parliamentary Team for Rare Diseases.

- The only drug that can stop the progression of the disease and help survive until gene therapy, which is already at an advanced stage, is an oral solution of trofinetide, Daybue, available only in the United States. The amount needed to buy this drug is unattainable - it is PLN 40,000 per week . You have to add to this the cost of travel to the USA, because the drug can only be bought there. As for gene therapy, it will also be available only in the USA. And of course it will be very expensive - he explained.

- We started a fundraiser because this is the only solution we can count on. We have not received any other offer - he added.

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Prof. Magdalena Chrościńska-Krawczyk , Lublin provincial consultant in the field of pediatric neurology, reminded that Rett Syndrome is a very rare disease. It occurs with a frequency of 1 in 10 thousand , mainly in girls. In Poland, about 500 children suffer from it.

As the expert pointed out, the disease is caused by a mutation in the MECP2 gene located on the X chromosome. It encodes the MECP2 protein that affects the differentiation and formation of nerve cells and interneuronal connections. Diagnosing Rett Syndrome is difficult because up to a certain point the child develops normally. In the 6-18th month of life, there is a regression . Epilepsy may appear, often drug-resistant. In subsequent stages, the disease worsens. Patients require multi-specialist care because in addition to neurological disorders, orthopedic, cardiological, and gastrological problems appear. Continuous rehabilitation is also necessary.

- The only therapeutic option for this condition is the aforementioned drug containing trofinetide, which is effective in inhibiting the progression of the disease. In fact, it has a symptomatic effect, not a causal one. In March 2023, the drug was approved by the FDA for use in the United States. Currently, several girls from Poland who travel to the US with their parents are using the treatment. The drug must be used daily, so you can easily imagine the costs - said Prof. Chrościńska-Krawczyk.

She noted that currently two large pharmaceutical companies are conducting gene therapy studies for Rett Syndrome in two groups: children aged 4-10 and people over 12. The studies are being conducted in the United States and are already well advanced.

- I asked for patients from Poland to be included in the study, but to no avail - only girls from the USA are being recruited. A certain solution would be to bring the clinical trials to Europe , which would make the situation much easier. We will talk about it - added the provincial consultant.

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"The scale of needs is enormous"

Artur Fałek , former director of the Department of Drug Policy and Pharmacy at the Ministry of Health, pointed out that in Europe, therapies are usually registered 2-3 years later than in the US. The registration process for the drug with trofinetide began in the EU a year ago and is expected to end in the first quarter of 2026. Until then, there is no possibility of financing this therapy from public funds . Only drugs approved for marketing in Poland can be financed under the RDTL.

- You can import the drug from the US, but at your own expense. It is of course possible to apply to the Minister of Health for reimbursement, but it should be expected, especially in the case of therapy that costs millions of zlotys, that the case will be referred to AOTMiT for assessment - he noted.

As he emphasized, our system is not prepared to finance modern, very expensive therapies. Meanwhile, the scale of needs is enormous.

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"We need a big budget for rare diseases"

- In drug programs, we currently have PLN 14 billion in the financial plan of the National Health Fund. If we calculate the average total cost of therapy with a drug containing trofinetide, which is approximately PLN 11 million for one person, for 500 girls, we will get approximately PLN 5 billion. These values do not match at all. If we do not increase the financing of drugs, we will not provide patients with access to new therapies - said Artur Fałek.

- We can place our hopes in multi-criteria analysis, a new evaluation system for therapy in rare diseases. Multi-criteria analysis is in fact in the draft amendment to the Reimbursement Act, which is currently in consultation. Perhaps we should also think about funds from the Medical Fund, which could be used to finance such bridging therapies as the one in Rett Syndrome - he suggested.

Prof. Alicja Chybicka , chairwoman of the Parliamentary Team for Rare Diseases, emphasized that a large budget for rare diseases is needed , marked and reserved for patients like Laura.

- It must also be a budget that can be launched quickly, and not when the child is already in a wheelchair. Importantly, the MECP2 gene should be tested immediately after the child is born. Gene therapy can then be administered immediately, but it is important that it is started in one of the Polish centers. This will greatly reduce the costs. They will certainly not amount to several million zlotys - said Prof. Chybicka.