A pioneering gene therapy for inherited blood disorders has been given to a patient in the UAE for the first time.
Known as Casgevy, the potentially life-changing treatment involves deactivating a particular gene so patients can produce healthy forms of haemoglobin, the oxygen-carrying blood protein.
This alleviates symptoms of sickle cell disease, a genetic blood disorder that limits blood flow, and another condition called transfusion-dependent beta thalassaemia. People with beta thalassaemia can develop severe anaemia, and often require a blood transfusion every three to five weeks, lifelong injections and medication.
Both conditions are more common in the Middle East than in many other regions.
Advancing health care
The treatment, which involves complex genetic changes being made to a patient's cells, has been reported to cost $2 million.
In a first for the UAE, the Yas Clinic in Khalifa City, working with the Abu Dhabi Stem Cells Centre and Vertex Pharmaceuticals, the American company behind the therapy, has administered Casgevy to a patient. The use of the therapy was overseen by the Department of Health in Abu Dhabi.
“In Abu Dhabi, we continue to build one of the world’s most advanced, intelligent and efficient healthcare systems by adopting cutting-edge technologies and the latest gene-based therapies,” said Dr Noura Al Ghaithi, Undersecretary of the Department of Health. “These innovations open new doors for recovery and give patients renewed hope for a better quality of life.”
Addressing root cause
Casgevy, which is given to patients aged 12 years and above, involves a complex gene-editing technology called Crispr-Cas9, which uses “molecular scissors” to cut and modify genes.
With Casgevy, the target gene is called BCL11A. After birth, that gene causes the body to make less of the foetal form of haemoglobin, with adult haemoglobin gradually taking over.
In people with sickle cell disease, the adult form of haemoglobin does not work properly because a defective form of a gene that codes for a haemoglobin component has been inherited from both parents.
This causes the red blood cells to be sickle-shaped, restricting blood flow. Patients may feel tired, be anaemic, suffer joint pain and be more at risk of infections. When they are older they are at greater risk of having a stroke.
Sickle cell disease worsens during childhood as the body progressively produces less foetal haemoglobin, which functions normally, and more adult haemoglobin, which does not work as it should for those with the condition.
Similarly, in children with beta thalassaemia, symptoms gradually intensify because the body does not produce enough of a key component of adult haemoglobin, causing anaemia and other complications.
Casgevy involves removing stem cells from the patient’s bone marrow, changing them genetically using Crispr-Cas9 to deactivate BCL11A, and returning them to the patient after they have received a type of chemotherapy.
With BCL11A out of action, the patient’s body continues to produce foetal haemoglobin into adulthood, creating what doctors call a functional cure.
In comments reported by state news agency Wam, Dr Maysoon Al Karam, chief medical officer at Yas Clinic, said the development meant that potentially life-changing solutions could be given to patients. It reinforced Abu Dhabi’s significance as a centre for advanced therapies and the life sciences, she added.
Hisham Hagar, executive country manager at Vertex GCC, said patients who for many years had limited treatment options now have the prospect of a functional cure.
Stepping up support
The announcement that Casgevy has been administered in the UAE comes less than a year after Bahrain became only the second country in the world after the US to use the treatment, as reported in The National.
The UK approved Casgevy for use in November 2023, while Bahrain and the US followed early the next month. Saudi Arabia gave the green light in January 2024, with the UAE giving approval in December that year.
Last year, Casgevy was administered to an Emirati man, Khalifa Dawood, by Cleveland Clinic doctors in Ohio.
Crispr-Cas9 technology has proved to be useful in biotechnology as well as medicine, where it has many applications, including in cancer therapies. The two scientists who played the greatest role in discovering and developing the technology, Emmanuelle Charpentier and Jennifer Doudna, won the 2020 Nobel Prize in Chemistry.
Vertex Pharmaceuticals is behind treatments for other conditions including diabetes. The news about Casgevy comes just days after the first use in the UAE of another form of gene therapy, the spinal muscular atrophy treatment Itvisma.
