They approve the first CRISPR genetic therapy in the UK, Casgevy, marking a transforming chapter in medicine: the ability to modify the hematopoietic stem cells of the patient outside the body (ex-live) and its subsequent reinsertion to treat devastating blood diseases is an unprecedented milestone.
Casgevy, known as exagamglogene autotemcel or Exa-cel, represents a renewed hope for patients with sickle cell anemia and beta thalasemia, two hereditary conditions triggered by mutations in the HBB gene, in charge of the production of hemoglobin, the key protein in the red blood cells to transport oxygen.
Before you follow, if you do not know what it is cyforme, results from mutation of the β-globin gene (HBB), causes red blood cells to acquire a distorted form, triggering anemia, obstructions in blood vessels and problems in blood distribution to organs. On the other hand, beta thalassemia, also caused by changes in the HBB gene, leads to reduced production of hemoglobin, generating anemia and higher risk of blood clots.
What is Casgevy
This genetic therapy involves a meticulous process: hematopoietic stem cells are extraendas, those responsible for creating different types of blood cells, and are modified in laboratory using advanced tools like CRISPR to preserve the production of beta- globine fetal.The interesting thing is that this technique takes advantage of something key in both diseases: the genetic mutations that affect the HBB gene, responsible for beta-globin adult. Here is the trick: there is another guy who silences himself shortly after birth and stops expressing himself: the beta- globine fetal, and scientists
how to maintain your activity in patients who do not produce enough beta-globin adult.
The genetic edition with CRISPR focuses on eliminating a specific region that increases the activity of the BLC11A gene, a "switch" that represses protein production beta- globine fetal. By eliminating this region, BLC11A protein follows present for its normal functions in the blood system, but at lower levels, which allows the production of beta- globine fetal stop being inhibited and reactive. It is an innovative way to recover your key function to mitigate the symptoms of these diseases.
To which patients are destined
Casgevy It is used to treat sickle cell anemia in 12-year-olds who suffer recurrent painful crises caused by blockages in blood vessels and have at least one copy of the genetic variant responsible for the disease (βS/βS/βS/βS/βS/βS/βS/β0). This treatment is recommended for those for whom a stem cell transplant from the bone marrow is suitable, but a compatible donor of stem cells has not been available in terms of a specific antigen (called human leukocyte antigen).It is also intended for the treatment of beta thalassemia dependent on transfusion in patients over 12 years of age who are in a similar situation in relation to stem cell transplantation of the bone marrow: it is an appropriate treatment option, but do not have a compatible parent donor.
The behind the scene
Clinical trials CLIMB-111 and CLIMB-121, which supported the approval of this genetic therapy, demonstrated encouraging results: in patients with sickle anaemia, most remained free from occlusive vase crises for more than 12 months after treatment. For those with betatalasemia, the need for transfusions decreased significantly, some paces being
You can give up these for a year or more.However, Casgevy's long-term effectiveness and safety are areas of continuous monitoring. Although therapy has proven to be safe so far, with typical side effects of cell therapies and stem cell transplants, surveillance remains critical.
How much would it cost?
A critical issue is the cost associated with this innovative therapy. Institutions such as the Institute for Clinical and Economic Review suggest a price range between $1.35 and $2 million for cost-effectiveness. It is necessary to take into account the high health care costs throughout life for patients with these conditions. For example, medical spending attributable to each patient with sickle cell anaemia amounts to 1.7 million dollars in the insured. It would be necessary to find out if the final price of therapy will be accessible to those who benefit from it.Casgevy's approval does not only represent an achievement for medicine, but also an open door to future gene therapies. The pharmaceutical companies Vertex Pharmaceuticals and CRISPR Therapeutics, pioneers in this development, continue to explore similar therapies for a wide range of diseases, from diabetes to cardiovascular diseases, thus boosting an exciting era of personalized and accurate medicine.
What are the next ones to be approved?
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