Aurora magazine

The US Food and Drug Administration (FDA) has approved the sale of the Galafold drug. It is the first drug taken orally against Fabry disease. Galafold is specifically indicated for adults with a specific genetic abnormality. The drug replaces the missing enzyme, but acts differently from normal replacement therapies.

Until now, treatments for Fabry's Disease included the replacement of the enzyme alpha-galactosidase A. The new drug, on the other hand, binds to the unstable forms of the enzyme and stabilizes them. The process ensures that the recovered enzyme can be transported where it is needed. The tests confirmed the effectiveness of this approach.

The researchers performed a total of 4 clinical trials, analyzing the responses to Galafold of 139 patients. The last clinical trial was used to test the efficacy of the drug and involved 45 adults with Fabry disease. Half of the patients received the drug for 6 months, the others received a placebo.

The first group showed a clear reduction of globotriaosylceramide in the blood vessels of the kidneys. The most significant side effects were headache, nausea, urinary tract infections and above-average body temperature. However, being much less incisive than the benefits, the drug has been approved for human use.
For Galafold, the rapid approval procedure was used, which was used for the most serious diseases. Nevertheless, further studies will be needed to identify any long-term side effects.

Source: raredr.com

Fabry disease is an inherited genetic disease that affects the glycosphingolipid metabolism. The classical form is characterized by the absence of the enzyme alpha-galactosidase A and mainly affects males. It is in fact linked to an anomaly of the GLA gene, present in the X chromosome. It is estimated that the disease affects about 1-5 people per 100,000. Nevertheless, there is reason to believe that the real prevalence is much higher.

The first symptoms appear between 4 and 10 years and are acute pain accompanied by burning and tingling. Going forward, neurological, cutaneous, renal, cardiovascular and cerebrovascular symptoms are added. Fabry sufferers suffer from transient stroke and ischemic attacks. Furthermore, it is common for renal functions to deteriorate and so are cardiac functions. This happens due to the accumulation of sphingolipid sugars, caused by the deficiency of the enzyme alpha-galactosidase A.

Diagnosis of Fabry disease occurs through clinical observation and measurement of enzyme levels. Often the method is not conclusive and genetic analysis is necessary. In the event that one of the two parents is a healthy carrier, prenatal diagnosis is available for male fetuses. A dosage of the enzymatic activity is carried out and, if necessary, it is passed to genetic counseling.

Traditional treatments involve the use of analgesics to control pain and anti-arrhythmic drugs. In severe cases, it is necessary to intervene with renal transplantation and dialysis. Although there is no resolution therapy, the treatments available today are essential to ensure patient survival. Without them, the subjects incur a deterioration in the quality of life and have less chance of survival.

Source: orpha.net

A study by the University of Wisconsin-Madison has unveiled new details on how women's fertility works. Researchers have identified two genes working together to establish cellular communications in the ovaries. In guinea pigs, the system helps keep the oocytes healthy and guarantee their survival. The discovery could explain some cases of unexplained infertility and early menopause.

In the early menopause the ovaries stop producing estrogen, causing premature loss of the oocytes. This condition affects about 3% of women, in many cases without obvious symptoms. Previous studies by Dr. Jorgensen had revealed a possible cause. In guinea pigs without the IRX3 and IRX5 genes, follicles worked less well. This resulted in a smaller number of children, which made one think of fertility problems.

Going forward, the studies have revealed that the two genes are expressed in two different areas of the ovaries. Nevertheless, they are both essential for synchronizing oocytes and granular cells. The two types of cells expand the membranes by creating the junctions between them. In this way they communicate and regulate themselves in view of fertilization. Without the two genes, the process stops and the follicles remain destabilized.

Despite the findings made on guinea pigs, researchers are still not sure whether they are applicable to humans. The next step will be to check this point, but further studies will be needed.

Source: wisc.edu

According to a study by Dr. Amy Sturm, the genetic test for familial hypercholesterolemia should become a standard. The test should include the analysis of genes encoding LDL receptors, apolipoprotein B and PCSK9. If performed on those most at risk, the tests would reduce the risk of complications related to the disease and would facilitate prevention.

The team of researchers believes that the genetic test should be proposed to those with a family history of hypercholesterolemia. The analysis should be done both to adults and children, in which the first signs of the disease can be identified. This would allow early intervention against coronary pathologies and avoid complications in adulthood. For the same reason, tests should be performed for all children without a known family history.

Doctors recommend proposing genetic testing not only for children but for all first-degree relatives of people with hypercholesterolemia. They should also perform the test: children with signs of high cholesterol; people with a history of coronary, personal or family history.

Knowing whether hypercholesterolemia is caused by genetic variants helps to choose the best treatments. In these cases, in fact, acting only on the lifestyle may not be enough. The first studies in this regard showed clear improvements in subjects who received ad hoc treatments following the genetic test.

Source: medpagetoday.com