The results of a phase 2 clinical trial using gene therapy as a treatment for hemophilia are promising. Explanations.
- The majority of cases of haemophilia in France concern men.
- Hemophilia B affects one in 25,000 births according to Inserm.
It is a rare and hereditary disease, which affects more than 7000 people in France: haemophilia. This is characterized by very poor blood clotting, which means that in the event of bleeding, the flow cannot stop or is very difficult. Thus, if a person with hemophilia is injured, he is at risk of bleeding, which can be very serious.
Hemophilia A and B
Hemophilia A is the most common while hemophilia B is five times rarer. The difference between the two is the missing clotting factor. The first is characterized by a deficiency of coagulation factor VIII, while hemophilia B is linked to a deficiency of coagulation factor IX. In both cases, it is this lack that makes the person sick.
No curative treatment
Currently, there is no cure for hemophilia. The only solutions offered to patients can reduce symptoms, prevent bleeding and improve their quality of life. These are regular injections, intravenously, of the missing coagulation factor… A burdensome and restrictive treatment for the patients.
Genetical therapy
But according to a study published in the journal New England journal of medicine, this care could soon be replaced by gene therapy, a technique that can replace or repair a defective gene, here the one responsible for homophilia. Thus, once the normal version of the gene is introduced into the patient’s body, the patient can again produce the protein that was missing.
Less bleeding
“Removing the need for hemophilia patients to regularly inject the missing protein is an important step in improving their quality of life“, says Professor Pratima Chowdary, lead author of this study.
To reach this conclusion, the researchers gave ten patients a dose of gene therapy called FLT180, in a phase 2 clinical trial. Results: The bodies of nine people with severe or moderately severe hemophilia B started producing the clotting protein they lacked. At the same time, the patients also had an improvement in their symptoms, in particular less bleeding. The researchers note that participants in the clinical trial tolerated the treatment well but had to take immunosuppressants to prevent their immune systems from rejecting the gene therapy.
In the future, these ten patients will be followed over a period of fifteen years to verify that gene therapy is effective in the long term and that it does not involve any risk.
