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Aurora magazine

New medicine against SMA type 1 is safe

An article published in the journal The Lancet reports the results of the Phase 2 clinical trial of Nusinersen. It is an experimental drug intended for the SMA or spinal muscular atrophy. Tests have shown that it is safe and well tolerated by the body. Furthermore, the data show good clinical efficacy on infants with SMA Type 1, the most acute form of the disease.

The trial involved 20 children aged between 3 weeks and 7 months, all with an anomaly in the SMN1 gene. This anomaly is one of the causes SMA. Nusinersen consists of a piece of DNA drawn up as to stimulate the production of the missing SMN protein, directly into the spinal fluid of children. This phase of the research was to assess the safety of the drug against spinal muscular atrophy, as well as its effectiveness. In this respect, the very positive results would appear: Nusinersen is safe enough and it seems to slow down the progression of the disease.

According to the researchers, Nusinersen would even managed to transfer patients from a disease of type 1 to a type 2. In both cases, the children would even started walking, which would make them switch to a SMA type 3. This it means that the drug would be able to lengthen the life of children expectations, while not curing them in a definitive manner. Younger patients treated with Nusinersen seem to be able to live longer and better, which would be a big step forward.

Before the drug is marketed will require further trials. Meanwhile, researchers are trying to expand the program, so as to allow more children to access it. The next step will be to test the safety and efficacy in children from 6 weeks up.


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Focus on Fanconi anemia

Fanconi anemia is a genetic disease that causes a shortage of red and white blood cells. The cells of those affected also show a large chromosomal instability, with obvious signs of breakage and damage. This leads to growth retardation, malformations and increased susceptibility to tumors.

Who gets it tends to develop leukemia, brain tumors and genital apparatus. Usually it occurs at school age and gets worse with each passing year.

Researchers have identified to date 15 genes involved in the development of Fanconi anemia. Of these one is present on the X chromosome, causing a variation that occurs in males and females remains dormant, which become healthy carriers. Other changes will instead transmit an autosomal recessive trait: if both parents pass the affected gene to the child, they get sick.

Malformations and abnormalities in blood tests are the first warning bell. The actual diagnosis provides a cytogenetic examination, which serves to measure how the chromosomes are unstable in the presence of certain chemical compounds. In the event of cases in family, it is also recommended that you hire any prenatal test, which checks for the presence of the genes responsible.

At the moment, the only available treatment is the transplantation of stem cells, prelevale from the umbilical cord or bone marrow.

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