Aurora magazine

The Italian Medicines Agency (AIFA) has approved nusinersen, the new medication for the treatment of spinal muscular atrophy (SMA). Until now nusinersen was only available in the United States, Japan and a few European states. It had been distributed in Italy only as a compassionate treatment for 130 children with Type 1 SMA.

Clinical trials have shown an increase in the survival rate of children undergoing treatment. Physicians also recorded an improvement in motor functions. The improvements were so obvious that pushing scholars to interrupt the tests before the time. This way it was possible to supply the drug to the control group's children.

AIFA has resorted to an accelerated approval path for nusinersen. The route applies to medicines needed for serious or fatal illnesses, as well as for those that are completely devoid of care. Thanks to this, the medication will be available to all patients with SMA in a very short time. They open doors to a new standard for future therapeutic pathways.

The introduction of nusinersen in the Italian market will make it necessary to invest in the training of new industry players. It will be particularly important to manage presynaptic patients, where the drug may reduce the appearance of the symptoms drastically.

Source: ansa.it

The genome analysis of 2,064 people revealed a number of autologous genetic abnormalities. The study suggests that the sequencing of the entire genome could one day contribute to the diagnosis.

It is now certain that autism has genetic bases. The current tests, however, are not always able to identify the anomalies that are the cause. The study identified new genetic patterns that could help in the absence of other genetic markers. If they were confirmed, they could become a guide to early diagnosis of the disorder.

The complete sequencing of the human genome is becoming easier and cheaper. So much so that, according to the author of the study Evan Eichler, within 10 years it could become the best diagnostic tool for autism.

Current genetic tests focus only on genome areas already linked to autism. Other tests are looking for anomalies in well-defined genes. However, based on family histories, inheritance plays a decisive role only in 50% of cases. Consequently, the approach covers only 10-30% of cases.

The researchers sequenced the genome of 516 autistic children. Children did not have family history autism stories and none of the abnormalities normally detected by the tests. Scientists also sequenced the genome of parents and children's brothers, for a total of 2,064 people.

The team identified abnormalities that have destroyed some genetic functions and altered protein production. They also found modifications in areas of the genome without genes but responsible for the activation of some important genes.

Comparing the number of genetic variations in autistic children and brothers, it was found that the former had often three or more types of anomalies. This suggests that the combination of several sporadic variations could contribute to autism. However, further studies will be needed.

Source: hhmi.org

An experimental treatment helped a child with adrenoleucodistrophy, a rare genetic disorder affecting the nervous system. The disease was also at the center of a famous movie, "Lorenzo's Oil", based on a true story.

Unfortunately, Lorenzo's oil is not a real cure for the disease. The only treatment currently available is a brother's stem cell transplant, only possible for 1 out of 5. The new treatment, on the other hand, allows the patient's own cells to be used. Doctors take a marrow sample and modify stem cells by replacing the diseased gene with a healthy one. Then they implant the cells again.

The study led by Dr. David A. Williams involved 17 children between the ages of 4 and 13. Patients were affected by the worst form of adrenoleucodistrophy, which also affects the brain. Two years after treatment, 15 of them were neurologically stable and lacking major disabilities. Two others were dead, one for worsening of the disease, the other for complications following a transplant.

According to the results, treatment could be as effective as stem cell transplantation. With the difference that the latter is not available for all patients. However, it is unknown how long the benefits are and what the costs might be. However, in order for the treatment to be approved by the Food and Drug Administration, 15 years of monitoring will be required. Only after all will it be possible to tell if we are facing a cure.

Source: phillytrib.com

Sleeping on the back in the last stages of pregnancy could harm the fetus. It is revealed by a research at Auckland University. According to the researchers, the sleeping position influences the risks associated with childbirth.

The study involved 30 women between the 34th and 38th week of gestation, all in good health. In addition, cases of difficult pregnancies were examined, or where the fetus moved little. Fetal activity is in fact one of the indicators of the child's health. Previous studies have associated the lack of movement at a higher rate of dead fetuses.

Researchers monitored baby responses to mother's position changes during sleep. They used an infrared camera to record women during sleep. In the meantime, they monitored the heartbeat of mother and son. When the mother slept on her back, the fetus was less active than when she slept on her side. In the event of a change of position from the back to the back, the fetus stopped.

Peter Stone, one of the leading authors of the study, said the discovery could help especially in case of difficult pregnancy. If the doctor doubts the child's health, he or she may advise the mother to sleep on her side.

Source: physoc.org