The little girl with SMA has started to receive a drug against the pathology in recent weeks in the uterus. He is now two and a half years old and is without symptoms.
A two and a half year old girl has become The first person to receive pharmacological care for spinal muscle atrophy (SMA)the genetic condition of which it is affected, directly in the uterus. The little girl, who continued to take drugs for even after birth, is now without evident signs of the disease. Although it is a single case, the one described on the New England Journal of Medicine opens the possibility to studies on the therapeutic potential to start treating serious genetic diseases even before birthso as to limit the damage by beating the pathologies on time.
What is SMA. Spinal muscle atrophy is a pathology that causes The death of motorholesthe nerve cells of the spinal cord that control the muscles and their movement. It affects a newborn every 10,000 and is the most common genetic cause of childhood death.
The girl followed in the study was affected by the most serious form, which affects about half of the patients: the one in which both copies of the SMN1 gene are missingwhich codes for an indispensable protein for the normal functioning and survival of motor noise and in which the “SMN2” reserve gene, which produces the same protein, is unable to produce in sufficient quantities.
The deficit protein is the SMN, or “survival of the motorway”. It takes on greater importance in the second and third quarter of pregnancy and in the first months of life. Children with the most serious forms have a slowdown in movements already during gestation and often do not survive the third year of life.
The idea of the parents: anticipate the times. One of the drugs approved in the last decade for the symptoms of the SMA is the Risdiplama molecule produced by the Swiss Biotechnology Roche company that modifies the expression of the SMN2 gene so as to make it produce greater quantities of the SMN protein. Does not take care of the disease but contains its evolutionand guarantees the greatest benefits if taken in an early stage.
So far, the pharmacological treatments for spinal muscle atrophy have been beginning from after birth, but babies with serious forms of SMA are already born with some symptoms. The idea of trying therapy in uterus It was proposed by the parents of the little onewho had already had a mourning experience caused by the disease.
Damage reduced to a minimum. Food and Drug Administration has approved the use of the drug in the uterus for this single case.
The mother took the medicine starting from the 32nd week of pregnancy for six weeks, and the little girl starting from the first week after birth. The tests on the amniotic liquid first and on the umbilical cord then showed that The drug had reached the fetusand after birth the girl had higher levels of SMN protein in the blood and lower levels of neural damage.
Today it shows no signs of muscle weakness and has a normal muscle and motor development, even if, probably, the drug for life will have to take.
