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Britain has approved the first gene therapy for sickle cell disease, making it the first country in the world to do so.

The UK has given the green light to the initial gene therapy for sickle cell disease, making it the pioneering nation to do so.
Europe Science & Health

Britain has approved the first gene therapy for sickle cell disease, making it the first country in the world to do so. The UK has given the green light to the initial gene therapy for sickle cell disease, making it the pioneering nation to do so.

The United Kingdom’s regulatory agency for medicines has approved a gene therapy as the first of its kind to treat sickle cell disease, potentially providing relief to numerous individuals affected by the debilitating condition in the country.

On Thursday, the Medicines and Healthcare Regulatory Agency announced the approval of Casgevy, the first medication to be licensed using the CRISPR gene editing technology. The developers of CRISPR were awarded the Nobel Prize in 2020.

The treatment for sickle cell disease and thalassemia has been approved by the agency for patients aged 12 and above. The company responsible for producing Casgevy is Vertex Pharmaceuticals (Europe) Ltd. in collaboration with CRISPR Therapeutics. Bone marrow transplants have been the only long-term solution thus far, but they are difficult and often come with adverse effects.

According to Dr. Helen O’Neill from University College London, the potential for transformative medical treatments lies in CRISPR gene-editing technology.

“The term ‘cure’ has been deemed incompatible when discussing sickle cell disease or thalassemia,” she stated, noting that the MHRA’s endorsement of gene therapy is a significant milestone in history.

Sickle cell disease and thalassemia both result from errors in the genes responsible for producing hemoglobin, the protein found in red blood cells that transports oxygen.

FILE - US first lady Melania Trump makes candygrams with 13-year-old sickle cell disease sufferer Amani during a Valentine’s Day visit with young patients at the National Institutes of Health (NIH) in Bethesda, Maryland, Feb. 14, 2019.

Melania Trump, the first lady of the United States, created candygrams with Amani, a 13-year-old who suffers from sickle cell disease, during a Valentine’s Day visit to the National Institutes of Health (NIH) in Bethesda, Maryland on February 14, 2019.

In individuals of African or Caribbean descent, a genetic mutation leads to sickle cell, a condition where red blood cells become crescent-shaped. This can result in blocked blood flow and severe pain, as well as damage to organs, stroke, and other complications.

Thalassemia is a condition where the genetic mutation leads to intense anemia in individuals. These patients typically need regular blood transfusions, as well as lifelong injections and medications. This condition mainly affects those with South Asian, Southeast Asian, and Middle Eastern ancestry.

The recently developed drug, Casgevy, functions by specifically targeting the troublesome gene found in a patient’s bone marrow stem cells. This allows the body to produce functional hemoglobin.

Initially, patients are given chemotherapy, followed by the extraction of stem cells from their bone marrow. These cells are then subjected to genetic modification in a lab to correct any faulty genes. Finally, the altered cells are re-introduced into the patient’s body for a lasting cure. The patient is required to be admitted to the hospital on two occasions – first for the harvesting of stem cells and then for the infusion of the modified cells.

Dr. James LaBelle, the director of the pediatric stem cell and cellular therapy program at the University of Chicago, expressed his excitement about the potential for new treatments for patients with sickle cell disease. He also stated that the recent approval in Britain indicates that authorization in the U.S. is likely to happen soon.

The U.S. Food and Drug Administration is currently evaluating Casgevy, with a decision expected to be made early next month. This will be followed by consideration of another gene therapy for sickle cell disease.

According to LaBelle, the University of Chicago is actively working on establishing both the clinical and reimbursement infrastructure in order to provide this treatment to patients.

The regulatory agency in Britain has approved a gene therapy for sickle cell disease after evaluating a study involving 29 participants. Among them, 28 reported experiencing no significant pain issues for a minimum of one year following treatment. In the thalassemia study, 39 out of 42 patients who received the therapy did not require a red blood cell transfusion for at least one year.

The cost of gene therapy treatments can be in the millions of dollars, and experts worry that they may not be accessible to those who would benefit the most.

Britain granted approval for a gene therapy aimed at treating a deadly genetic condition with a listed cost of £2.8 million ($3.5 million) last year. The National Health Service of England successfully negotiated a sizable undisclosed reduction to provide access to qualifying patients.

Vertex Pharmaceuticals has not determined a cost for the medication in the United Kingdom and is collaborating with healthcare officials to obtain reimbursement and allow eligible patients to access the treatment as soon as possible.

In the U.S., Vertex has not released a potential price for the therapy, but a report by the nonprofit Institute for Clinical and Economic Review said prices up to around $2 million would be cost-effective. By comparison, research earlier this year showed medical expenses for current sickle cell treatments, from birth to age 65, add up to about $1.6 million for women and $1.7 million for men.

The British government requires a regulatory agency to approve medicines and treatments before they can be provided to patients under the national healthcare system.

The number of individuals affected by sickle cell disease is in the millions globally, with approximately 100,000 cases in the United States. This condition is more prevalent in regions where malaria is or was prevalent, such as Africa and India, and is also more frequently seen in specific ethnicities including those of African, Middle Eastern, and Indian origin. Researchers suggest that carrying the sickle cell trait may offer some protection against severe malaria.