Introduction of gene therapy in the treatment of SMA patients in Hungary

Abstract

Spinal muscular atrophy is an inherited, rare disease, the most common cause of death in childhood genetic diseases. Of its many manifestations, SMA1 is the most severe, most common, and most fatal. For decades, before the age of two, it was unstoppably tragic, as we only had the opportunity to slow the deterioration and treat the complications. The vast majority of children lived to an average age of only 6.9 months, even with the best supportive care. The XXI. century brought great progress the introduction of innovative disease-modifying drugs that improve life expectancy and quality of life and reduce technological dependence. Among the three disease modifiers, the missing gene responsible for the disease is used in the gene therapy. It prevents the further destruction of motoneurons and improves the innervation and function of muscles by continuously maintaining the formation of surviving protein, which is essential for the functioning of motor neurons and the cells of organs. A gene therapy procedure is a special healthcare activity with great responsibility, which requires special preparations and conditions in terms of medicine, law, logistics, finance, distribution and licensing of medicines, and patient safety.