The European Medicines Agency (EMA) recommended this Friday granting a conditional European license for Casgevy, an advanced therapy drug. It is indicated for the treatment of transfusion-dependent beta thalassemia and severe sickle cell anemia in patients 12 years of age and older for whom hematopoietic stem cell transplantation is appropriate and a suitable donor is not available.
This new therapy can free patients from the burden of frequent transfusions and painful vaso-occlusive crises that occur when sickled red blood cells block small blood vessels. It has the potential to significantly improve your quality of life.
Beta thalassemia and sickle cell disease (SCD) are two rare inherited diseases caused by genetic mutations that affect the production or function of hemoglobin, the protein found in red blood cells that carries oxygen throughout the body. Both diseases are debilitating and life-threatening.
'Casgevy' is a cell-based gene therapy drug that uses CRISPR/Cas9 technology to edit the patient's own blood stem cells. It is a unique and personalized treatment that consists of mobilizing bone marrow stem cells from the patient's blood. CRISPR gene editing finds a specific sequence of DNA within a cell. Using 'molecular scissors' to make precise cuts, it allows genetic material to be added, removed or altered at that specific location in the cells' genome.
With 'Casgevy', stem cells are edited in the erythroid-specific enhancer region of the BCL11A gene that normally prevents the production of fetal hemoglobin (HbF). These modified cells are then infused back into the patient and reduced transcription of the BCL11A gene leads to increased HbF production, thus providing functional hemoglobin.
EMA experts have issued a positive opinion on the benefits of the drug intended to counteract the effects of these two genetic disorders. It is recommended for a conditional marketing authorization, one of the EU regulatory mechanisms to facilitate early access to medicines that meet an unmet medical need.
If approved by the European Commission, Casgevy would be the first available treatment that uses CRISPR/Cas9, a type of novel genome editing technology.
Since 2018, the Spanish Agency for Medicines and Health Products (AEMPS), dependent on the Ministry of Health, has already authorized four clinical trials in Spain with cells subjected to these very promising genomic editing techniques, three of them with CRISPR/Cas (the technology used in 'Casgevy') and one with the TALEN (transcription activator-like effector nuclease) system.
