As this Sunday, February 28, marks International Rare Disease Day, scientists are unveiling a promising therapy for patients with Fabry disease. This rare pathology particularly affects men and can attack several organs, such as the kidneys and the heart.
- It is linked to the mutation of a gene on the X chromosome responsible for the absence of the enzyme alpha-galactosidase A, essential for the body to eliminate certain fat cells that are toxic to the body.
- The principle of this therapeutic method consists of transplanting stem cells from the patient’s blood, then correcting the gene in the laboratory.
- The cells carrying the mutated gene are at the same time destroyed by chemotherapy administered to patients.
- Once the “way is clear”, the doctors reinject the modified stem cells.
It’s a new form of therapy that could give Fabry disease patients a lot of hope. Progressive and hereditary, Fabry disease most often manifests in childhood. It is linked to the mutation of a gene on the X chromosome responsible for the absence of the enzyme alpha-galactosidase Aessential for the body to eliminate certain fat cells that are toxic to the body.
The symptoms of Fabry’s disease are chronic and can be multiple: visual impairment, abdominal pain, kidney damage, heart failure… Currently, the most common treatment to mitigate the effects of this chronic pathology are bi-monthly injections. However, this treatment is very invasive for the patient. Not to mention that these injections help to better support the symptoms, but not to stop the evolution of the disease.
Based on gene therapy, the new treatment track described in the review NatureCommunications and developed by a team of Canadian doctors could guarantee Fabry patients a much higher comfort of life. After successful trials in mice, researchers administered the treatment in 2017 to a first 52-year-old patient, named Darren Bidulka.
Three patients were able to stop their treatment
The principle of this therapeutic method consists of transplanting stem cells from the patient’s blood, then correcting the gene in the laboratory. The cells carrying the mutated gene are at the same time destroyed by chemotherapy administered to patients. Once the “way is clear”, the doctors reinject the modified stem cells.
Since then, the treatment has been prescribed to four other patients. “To date, we can say that gene therapy has partially or fully restored enzyme levels to such an extent that they are no longer considered deficient“, explains in a press release Dr. Aneal Khan of the University of Calgary (Canada), who led the research.
According to the study, three of the five patients chose to stop their injection treatment, three years after receiving their gene therapy. However, doctors remain cautious and will follow their patients until 2024, to ensure that the effectiveness of the treatment is prolonged over time.