The US Food and Drug Administration has authorised Aqvesme (mitapivat) tablets for the treatment of anaemia in people with alpha- or beta- thalassaemia, a lifelong genetic blood condition. The decision is significant since it is the first oral treatment for beta thalassaemia and the first authorised therapy for alpha thalassaemia, both of which were previously treated primarily with blood transfusions and supportive care.

Thalassaemia affects how the body produces haemoglobin, the red ingredient in blood that transports oxygen. In layman's words, defective genes handed down from parents cause the body to create weak red blood cells that break down prematurely. This issue causes persistent anaemia, fatigue, shortness of breath, and, in many cases, the requirement for blood transfusions every two to five weeks. 

The FDA's decision is based on the findings of two large worldwide clinical studies that investigated whether Aqvesme may minimise this burden. 

The first research, named ENERGISE-T, included 258 people who required frequent transfusions. Of them, 171 received Aqvesme, and 87 were given a placebo. The researchers assessed whether patients may safely reduce their transfusions. A transfusion reduction response entailed decreasing transfused blood by more than half, resulting in at least two fewer units during a 12-week period. This process was accomplished by 30% of patients receiving Aqvesme, compared to 13% in the placebo group. 

The second experiment, called ENERGISE, focused on 194 individuals who did not require frequent transfusions. Doctors searched for an increase in haemoglobin levels, which indicates improvements in anaemia. A noteworthy response was defined as an increase of at least one gramme per decilitre. The result was observed in 42% of patients using Aqvesme, but just 2% of those taking placebo exhibited comparable improvement. 

Importantly, patients described how they felt. Using a conventional fatigue questionnaire, researchers discovered that individuals using Aqvesme had a higher reduction in weariness, with scores increasing by 4.9 points compared to 1.5 points in the placebo group. Higher ratings suggest reduced weariness and improved everyday functioning. 

Aqvesme is administered as a 100 mg tablet twice daily, with or without food, making it more convenient to use than hospital-based transfusions. Experts warn that the medicine is not a cure. It does not treat the underlying genetic cause of thalassaemia, but it can help the body's red blood cells function better, decreasing symptoms and, in some cases, reducing the need for transfusions. 

For people with thalassaemia, particularly those dealing with lifelong anaemia, the approval provides a new, realistic treatment choice and renewed hope for a better quality of life.