Landmark Breakthrough: UK Approves Gene Therapy for Sickle Cell Disease and Thalassaemia

    The UK drug regulator recently approved a groundbreaking gene therapy for the cure of sickle cell disease and thalassaemia, marking a significant milestone in medical advancement. 

    This therapy, named Casgevy, is the world's first licensed treatment based on the revolutionary gene editing technology Crispr-Cas9, which earned its innovators a Nobel Prize in 2020.

The Crispr-Cas9 Innovation

• The Crispr-Cas9 technology, often referred to as "genetic scissors," became available in 2012 and has since revolutionised the field of biotechnology. 

• Casgevy utilises this technology to edit the faulty gene responsible for blood disorders, offering a potential lifelong cure.

Understanding the Therapy

• Casgevy targets the gene BCL11A, crucial for the transition from foetal to adult haemoglobin. 

• By editing the patient's own blood stem cells, the therapy stimulates the production of foetal haemoglobin, mitigating the symptoms of sickle cell disease and thalassaemia. 

• This approach differs from the conventional treatment, which involves a bone marrow transplant requiring a closely matched donor.

Overview of Sickle Cell Disease and Thalassaemia

Sickle Cell Disease

• Sickle cell disease causes red blood cells to assume a crescent shape, hindering their movement through vessels and leading to blocked blood flow. 

• This results in severe pain, infections, anaemia, and the risk of a stroke. 

• In India, an estimated 30,000-40,000 children are born with this disorder annually.

Thalassaemia

• Thalassaemia, like sickle cell disease, involves errors in the haemoglobin gene. 

• It leads to low haemoglobin levels, causing fatigue, shortness of breath, and irregular heartbeats. Individuals with thalassaemia often require lifelong blood transfusions, leading to iron accumulation in the body.

Trials and Results

• Casgevy underwent trials for both sickle cell disease and thalassaemia. 

• Results showed promising outcomes, with a significant reduction in pain crises for sickle cell disease patients and a substantial decrease in the need for transfusions in thalassaemia patients.

Treatment Process

• Casgevy is administered as a one-time treatment. 

• The patient's blood stem cells are collected, edited, and tested over a six-month period. 

• The edited cells are then transplanted back into the patient's bone marrow. 

• This process requires a month-long hospital stay, during which the edited cells integrate and begin producing red blood cells with normal haemoglobin.

Challenges and Considerations

• While the therapy represents a significant advancement, challenges such as high treatment costs pose potential limitations. 

• Estimates suggest a considerable expense, possibly around $2 million per patient. 

• This raises concerns about accessibility, particularly in countries with limited resources. 

• Efforts to develop local manufacturing facilities and ongoing research aim to address these challenges.

Future Prospects

• Despite the current challenges, experts anticipate that prices may decrease over time as more research is conducted. 

• Developing local manufacturing facilities could enhance accessibility and affordability for a broader population. 
  
  

Source : The New Indian Express