What causes SA?

Spinal muscular atrophy is the result of a mutation in the SN1 gene . The disease is diagnosed in infancy. The incidence of the disease is not precisely known. It is estimated that approximately 55 children are born each year affected by this mutation.

Gene therapy - hope for better health

Gene therapy with Zolgensma is currently the most advanced treatment method. It allows the body's protein formation process to be influenced by specially prepared DNA fragments, which are introduced into the body with the help of a prepared adenovirus serotype 9 AAV9. The adenoviruses 'carry' special DNA sequences that start producing the missing SN protein in the body. Importantly, gene therapy does not alter the genetic code in any way! The advantage of gene therapy is that it works quickly - a significant increase in protein levels is observed as soon as the treatment cycle begins. This makes the drug highly effective in infants and young children, who are most at risk of rapid progression of the disease. This type of therapy is administered once.

Availability

As of May 2020, the drug has been approved for use within the European Union in patients who have clinical signs of form I of SA or no more than three copies of the SN2 gene regardless of the form of SA. Outside the EU, the agent has been given the green light in Brazil, Israel, Japan, Qatar and the US. Unfortunately, a limitation to accessing the drug is the price.

The world's most expensive drug

The retail price of the drug reaches USD 2.125 million. In Poland, the drug Zolgensma is not reimbursed by the National Health Fund and SA treatment is based on the use of the drug Spinraza. Attempts are underway to obtain reimbursement approval for gene therapy for the treatment of SA in Poland as well. Countries that have introduced even partial reimbursement include Austria, Brazil, the Czech Republic, France, Japan, Qatar, Israel, Germany, Slovakia, Switzerland and Italy.