This study is “revolutionary,” comments one of the authors of the Fabry disease study. Thanks to gene therapy, several patients with Fabry disease can now forgo their bi-weekly injections.
Fabry disease affects one in every 40,000 births.
Three men with a rare disease, Fabry disease, were able to forgo their twice-weekly intravenous treatment after receiving gene therapy, a Canadian team announced. It is a real revolution for these patients, to be celebrated on Rare Disease Day on February 29 – or February 28 in non-leap years. “This study is truly revolutionary, considering that current therapies cannot cure the disease,” said Dr. Michael West, nephrologist and co-author of the study, in a press release published in Nature Communications.
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 afterward definitely gives me hope that it can help many other patients with Fabry disease and possibly those suffering from other diseases with just one genetic mutation,” Ryan Deveau, one of the five patients to receive the new gene therapy, said in a statement. This treatment was developed specifically to alleviate Fabry disease, which is estimated to affect one in 40,000 births, theoretically 8750 people in the US.
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 products accumulate and symptoms build up from childhood. Vision problems, abdominal pain, and pain in the extremities (fingers, toes) can lead to heart, kidney, or brain failure as we age. Because the gene is linked to the X chromosome, of which only females have a second copy, males are more affected by the disease, so that their life expectancy without treatment is only 58 years, compared to 75 years for females.
Intravenous injections replaced by gene therapy
For these patients, the reference treatment is an intravenous injection of the missing enzyme over about 40 minutes every two weeks. These injections come with a very high financial cost and only provide temporary relief. This is where gene therapy comes in. It allowed the defective GLA gene to be replaced by a healthy copy in enough cells to allow the patient to produce their own enzymes. The mouse trials were successful, and in January 2017, doctors moved on to the first patient, a 52-year-old man named Darren Bidulka.
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