The nusinersen drug could prolong the life of children with the most severe forms of spinal muscular atrophy (SMA). Treatment improves motor functions and increases the chance of survival without artificial ventilation support by 47%. This is what emerges from a study led by Dr. Richard S. Finkel of Nemours Children's Hospital.
The nusinersen has recently been approved in the United States, Japan and Italy. A decisive news for children with SMA type 1. Those who suffer from this form of the disease, in fact, have very limited motor functions and tend to live very little. However, the study studies the efficacy of the drug on these subjects as well.
Treatment with nusinersen modifies the SMN2 gene by means of an antisense oligonucleotide, a fragment of synthetic DNA. Doctors inject it directly into the spinal cord. Nerve cells absorb DNA and increase the production of absent protein in SMA patients. The process stimulates the development of motoneurons and improves motor functions.
The study involved 121 newborn babies with type 1 SMA. Half of them received the drug, the others did as a control group with a placebo. After 13 months, 41% of those who received the nusinersen showed improvements in motor functions. Many of them started to kick, move their heads, sit and stand. Improvements absent in control group children.
All participants in the first phase were involved in a second phase. The purpose of the new study will be to analyze drug effects over the long run.