Aurora magazine

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.

Source: nemours.org

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

Tay-Sachs's disease is a hereditary genetic disease that affects the central nervous system. It is progressive and falls into lysosomal accumulation. This means that the symptoms are caused by the lack of active enzymes in the lysosomes, vesicles that eliminate cellular waste. Long the waste accumulates and damages the neurons.

There are three forms of Tay-Sachs disease:
• Childish or classical form. It manifests itself around 3-6 months of life. The first symptoms are weakness and tendency to start. Children suffering from it stop developing new skills and lose those acquired. They often suffer from convulsion, they move less and less, lose sight. They usually die within 5 years of age.
• Youthful form. It occurs between 2 and 10 years of age. Children who suffer from it begin to have difficulty walking and convulsive crises. They gradually lose their mental functions, view and muscle strength. This form is also fatal.
• Chronic or adult form. Those who suffer from it have difficulty walking, do not control the movement, and it is difficult to talk. In some cases, psychiatric disorders are manifested.

The disease is transmitted by a mutation of the gene encoding the enzyme esosaminidase A. The deficiency causes the accumulation of GM2 ganglioside in neurons and death. The mutation is recessive, so a couple of carriers have 25% chance of having sick children and 50% transmitting the recessive gene.

For diagnosis, clinical manifestations are analyzed and the activity of the enzyme exosaminidase A is measured. In case of healthy carriers, prenatal diagnosis is also available.

Periodic paralysis is a group of heterogeneous muscular pathologies. They are characterized by episodes of weakness and muscle paralysis, affecting mostly the limbs. The episodes have a variable life, but often last very little and occur at irregular intervals. This helps to make the diagnosis difficult.

In most cases, periodic paralysis is hereditary conditions. They are dominant autosomal transmissible diseases: just one parent has the mutated gene, to have 50% probability of transmission. Who inherits the mutated gene has muscles vulnerable to changes in potassium levels in the blood. Depending on whether the potassium is too much or too little, it is referred to hypocalemic or hypercaliemic paralysis.

The first symptoms of periodic paralysis appear during childhood or adolescence. They occur mainly when awakened, or after resting. Alternatively, they are manifested by intense physical efforts or the consumption of carbohydrate-rich foods. They are also related to the consumption of alcohol and excess salt.

Symptoms may vary considerably, depending on the condition of the patient. Generally, these include weakness or paralysis of the muscles of the hips, shoulders, legs, arms. Episodes can last between 3 and 23 hours, too little time to ensure a safe diagnosis. Genetic tests are essential to give a clear answer. In case of recurrent family episodes, prenatal diagnosis may also be considered.