First oral pill for anaemia in thalassaemia patients approved by US FDA: Why is this a milestone therapy?

The US FDA (Food and Drug Administration) has just approved mitapivat (to be sold under the brand name of Aqvesme) as a new oral medicine for treating anaemia in adults with thalassaemia, an inherited blood disorder that affects the body’s ability to produce hemoglobin and healthy red blood cells. The twice a day pill can be taken by those who need regular blood transfusions and even those who don’t.

Doctors are calling this a significant milestone in the management of this lifelong genetic blood disorder. “For the first time, a drug has been developed that directly addresses the disease at its cellular core rather than only managing its consequences. This can significantly transform the quality of life for thalassaemia patients across the world — and especially in India, where the disease burden remains high,” says Dr Rahul Bhargava, director and head of haematology, haemato-oncology, Fortis Institute of Blood Disorders, Gurugram. Children with thalassaemia experience disease-related complications early in life, including growth impairment, endocrine dysfunction and reduced quality of life. “An oral therapy that improves haemoglobin levels or reduces transfusion burden could significantly alter long-term outcomes,” says Dr Anupam Sachdeva, director of paediatric haematology and oncology at Sir Ganga Ram Hospital, New Delhi.

Mitapivat is not currently available in India as it has not received approval from the Drugs Controller General of India (DCGI) for general use as a prescribed medicine.

Why does the drug seem promising?

It is the first-in-class medication designed to improve the energy balance within red blood cells and address the disease at a cellular level rather than just focussing on management. “In patients with thalassaemia, red blood cells are fragile and break down prematurely, leading to chronic anaemia and an ongoing dependence on blood transfusions. By activating an enzyme, the drug enhances the energy of red blood cells, allowing them to survive longer, function more effectively and transport oxygen throughout the body. As a result, haemoglobin levels improve and the need for frequent blood transfusions begins to decline,” says Dr Bhargava.

Compared to blood transfusion and iron chelation therapy — which removes iron overload in the body as a result of transfusion — this is a more targeted treatment. “While bone marrow transplant is another option that can be curative, it is not suitable or accessible for all patients due to donor availability, cost, infrastructure limitations and medical risks,” explains Dr Bhargava. “Importantly, this mechanism is independent of gene editing or correction, making it applicable across different thalassemia genotypes,” says Dr Sachdeva.

Why is thalassemia an acute challenge in India?

Despite significant progress by the Government of India in expanding access to bone marrow transplantation through public healthcare institutions, the majority of patients still depend on lifelong transfusions. “Each year, approximately 8,000 babies are born with thalassaemia major, many of whom will require regular blood transfusions from infancy. Blood availability, transfusion-related complications and iron overload remain persistent concerns,” says Dr Bhargava.

The new oral therapy offers hope not only for transfusion-dependent thalassaemia (TDT) patients but also for those with non-transfusion-dependent thalassemia (NTDT)—a group that has historically had limited treatment options. “By improving red blood cell survival and reducing anaemia, the drug may help delay or even prevent the progression to transfusion dependence in some patients,” says Dr Bhargava.

Clinical trials, including the ENERGIZE and ENERGIZE-T studies, have shown promising results, demonstrating meaningful increases in haemoglobin levels and reduced transfusion requirements. “Before this, another important advancement came in the form of luspatercept, a drug that improves red blood cell production and is currently available in India. The oral therapy, when it becomes available in the country, would offer patients and clinicians additional options tailored to individual disease profiles,” says Dr Bhargava.

What about efficacy in children?

While paediatric thalassemia data are still evolving, important insights have come from the ACTIVATE-Kids clinical programme, which evaluated mitapivat in children. “These studies have established the safety, dosing feasibility and efficacy of mitapivat in the paediatric age group, providing a strong foundation for future paediatric thalassemia trials,” says Dr Sachdeva.

What about access and affordability?

Looking ahead, the availability and affordability of this therapy will be critical. “Once introduced in India, the drug could be supported through government programmes, making it accessible to a wider population. If implemented effectively, it could significantly reduce the economic, physical and emotional burden of thalassemia on patients, families, and the healthcare system,” adds Dr Bhargava.

As far as Anubha Taneja Mukherjee, a patient and secretary of the Thalassemia Patients Advocacy Group, is concerned, the drug is a “ray of hope if expeditious access can be ensured. We also need to find out the efficacy and suitability for various categories of patients.”