2024-04-15 22:00:00
Publi-info
Hemophilia is a genetic abnormality of clotting. The disease manifests itself with frequent and uncontrollable bleeding in patients, which requires monitoring and treatment. The impact on patients’ quality of life is considerable.
Gene therapy, a promising medical treatment that targets genetic defects, is expected to change patients’ lives.
What is gene therapy?
Gene therapy is for people with a genetic disease, a condition caused by abnormalities in genes or chromosomes. In other words, an error in the DNA prevents cells from receiving the information needed to make a protein. Gene therapy corrects this error by transmitting the missing information to the cells concerned, so that they can actually produce the protein.
Hemophilia is a disease that is well suited to gene therapy because it is a monogenic disease. Therefore, the DNA abnormality is “only” found in one gene.
Patients with hemophilia have a deficiency of a specific clotting protein, which means their blood does not clot properly and they bleed for longer. In the case of hemophilia A, factor 8 is the deficient or missing protein (85% of patients). In the case of hemophilia B, this is factor 9. The objective of gene therapy in hemophilia is therefore to provide liver cells with the information necessary to produce factor 8 or factor 9, so that the blood clots in the event of hemorrhage.
“As part of gene therapy, we will place the missing information in a microscopic capsule. This capsule is actually a virus. They are not dangerous for humans, we have stripped them of their interior and we will only keep the envelope (the capsule) to introduce the genetic information,” explains hematologist Prof. Dr Catherine Lambert (Saint-Luc University Clinics, Brussels). With her team, she participated in a pioneering international clinical study to evaluate the effectiveness of gene therapy in the treatment of hemophilia. “In hemophilia patients, we mainly use the envelope of adenoviruses to transport genetic information, because they naturally travel to liver cells following injecting them into a vein. There, they deliver the missing information so that the liver can begin, in the days or weeks that follow, to produce the protein, namely the clotting factor.”
What are the concrete benefits of gene therapy for people with hemophilia B?
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Current treatments for hemophilia B require repeated injections of the missing protein, i.e. factor 9. This limits patients’ freedom of movement, not only mentally, but also logistically. . Gene therapy, on the other hand, can allow patients to lead normal lives without having to think regarding injections. Thanks to a unique gene therapy treatment, hemophilia patients can be protected from bleeding, allowing them to travel and participate in sports activities without constantly thinking regarding the disease. In other words, gene therapy gives them the freedom to thrive in society, without restrictions.
According to the latest data, gene therapy offers lasting results following 2 or 3 years, with factor 9 levels above 30% in the majority of patients who participated in the studies. Other analyzes are underway to obtain longer-term data. “In this case, we are talking regarding mild hemophilia and the treatment is one-off, for example in the event of an operation,” explains Professor Lambert. “Some of the patients participating in clinical trials even have normal factor 9 levels and do not need additional treatment. The only question that arises is how long the effect will last. We don’t know today. Gene therapy is still in its early stages in terms of clinical outcomes. We therefore do not yet have long-term data.”
Is gene therapy already relevant or is it still a therapy of the future?
Gene therapy treatment for hemophilia B has already been registered in Belgium since February 2022, but the reimbursement procedure for this drug is still in progress. Patients must also meet a number of conditions before treatment can take place. For example, it is essential to have a healthy liver, otherwise gene therapy cannot be administered. “And if you have antibodies once morest the AAV virus, the capsules of which are used, these antibodies will attack the virus and will prevent genetic information from reaching its destination,” adds Professor Lambert. “A large proportion of people have already been exposed to the AAV virus at one time or another. In these people, treatment may not provide the expected results.”For those who qualify, the prognosis is promising. The vast majority of patients who participated in the clinical study on the effect of gene therapy on hemophilia no longer need injections. Professor Lambert concludes with this: “One of my patients even spoke of a rebirth, of a new life.”
Unfortunately, gene therapy cannot cure hemophilia, which remains a genetic and hereditary disease. But can it change life? Absolutely.
Sources :
BEL-GEN-0050
Source: Communiqué CSL Behring
Last updated: April 2024
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