Three men with a rare disease, Fabry disease, were able to do without their treatment administered intravenously every two weeks following gene therapy, announces a Canadian team. A real revolution for these patients, to be celebrated on the occasion of Rare Disease Day on February 29 – or, in non-leap years, February 28. “This study is truly revolutionary, as current therapies do not cure the disease“, enthuses in a statement Dr. Michael West, nephrologist and co-investigator of the study, published in Nature Communications.
Rare Fabry disease shortens life expectancy
“Being one of the first people in the world to receive this treatment and seeing how much better I felt afterwards definitely gives me hope that it can help many other Fabry disease patients and potentially those who do. suffer from other diseases with single gene mutations“, testifies in a press release Ryan Deveau, one of the five patients to have received a new gene therapy. This treatment was specially designed to relieve Fabry disease, which is estimated to affect one birth in 40,000, or theoretically 1,500 people in France, of which only 500 are diagnosed.
The disease results from a mutated gene called GLA, which is responsible for the production of an essential enzyme, alpha-galactosidase A. It is used to break down certain fats in the body’s cells. Without this enzyme, waste accumulates and symptoms pile up from childhood. Visual impairment, abdominal pain and pain in the extremities (fingers, toes) can with age become failures of the heart, kidney or brain. Since the gene is linked to the X chromosome, of which only women have a second copy, men are more severely affected by the disease. So much so that without treatment, their life expectancy is only 58 years, against 75 years for women.
A fortnightly intravenous injection replaced by gene therapy
For these patients, the standard treatment is an injection of the missing enzyme intravenously, lasting about 40 minutes every two weeks. A very important logistical constraint for the patients, in addition to a significant cost and a transient effectiveness which relieved the symptoms, but did not stop the progression of the disease. This is where gene therapy comes in. Thanks to it, the defective GLA gene could be replaced by a healthy copy in a sufficient quantity of cells for the patient to produce his own enzymes. As the mouse trials were successful, doctors switched to the first patient in January 2017, a man named Darren Bidulka, 52.
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