HOPE ON THE HORIZON
Thai and French researchers recently announce the world’s first successful gene therapy to permanently fix thalassaemia. But to roll it out in Thailand, government support is essential
Life can be very complicated for patients falling victim to thalassaemia. First, the inherited blood disorder leads to anaemia so patients require very frequent blood transfusions for the rest of their lives — an expense of around 10 million baht through the age of 30.
Or they can choose to have a bone-marrow transplant, a permanent cure for the life-threatening disease. But with less than 50% chance to find a matching bone marrow donor coupled with the cost of up to 3 million baht for the procedure alone, many find it both financially and emotionally unbearable.
Now such stumbling blocks on patients’ pathway to recovery are almost over with the latest medical achievement recently announced by a team of physicians and researchers from Ramathibodi Hospital. Published last month in The New
England Journal Of Medicine, the technique involves gene therapy to provide a lifelong cure to thalassaemia. A collaborative research effort between Thai researchers and Prof Philippe Leboulch of the University of Paris and Harvard Medical School, the project was carried out under a Memorandum of Understanding (MoU) between Ramathibodi Hospital’s Faculty of Medicine under Mahidol University and the French Alternative Energies and Atomic Energy Commission (CEA).
According to Prof Suradej Hongeng, renowned paediatric haematologist at Ramathibodi Hospital and one of the project’s researchers, the latest gene therapeutic technology has significantly turned the lives of three Thai thalassaemia patients upside down.
“Their quality of life has improved tremendously. They no longer require blood transfusions. They can study and work like able-bodied people,” said Dr Suradej, assistant dean of Research Affairs and Chief of Paediatric Haematology Oncology and Bone Marrow Transplantation of the Department of Paediatrics, Ramathibodi Hospital’s Faculty of Medicine under Mahidol University.
Thalassaemia is the world’s most common genetic abnormality. In Thailand alone, there are almost 200,000 people suffering the blood disease, with up to 3,000 new cases diagnosed annually. Of this number, only around 50,000 to 60,000 patients are lucky enough to get blood transfusions. There are two forms of thalassaemia: alpha thalassaemia and beta thalassaemia. The alpha type has two subcategories: alpha thalassaemia with no or merely mild anaemia and alpha thalassaemia that causes mortality even before birth.
Beta thalassaemia is another form of the blood disorder — a consequence of a defective production of haemoglobin, the protein that enables red blood cells to carry oxygen and carbon dioxide. This leads to severe congenital anaemia.
“Around 80% of beta thalassaemia patients require blood transfusion for the rest of their lives,” Dr Suradej said. “Without blood transfusions, they would end up dead. Unfortunately, frequent blood transfusions are likely to pose a high risk of iron overload so they need also to take iron-chelating medication, which is expensive.”
Yet there is another standard curative option for thalassaemia — a bone-marrow transplant — which, unfortunately, comes with restrictions like a difficulty finding an appropriate sibling donor and the procedure’s steep price.
So the gene therapy, said Dr Suradej, is expected to be able to lift all the burdens facing patients as well as family members. “The trial was conducted in 22 patients, three of which were Thais. After the gene therapy, all of them were found to be completely cured from thalassaemia.”
The therapy works by inserting a functional human beta haemoglobin gene into a patient’s own stem cells. This step is conducted outside the body before transplanting the modified cells back into it. The trials were conducted in the United States, Australia, France and Thailand.
“Compared to a bone-marrow transplant, the gene therapy results in less counter-reactions because it is the patients’ own stem cells that are transplanted back into their own body, not others. With the donor’s bone marrow, patients need immunosuppressant drugs [to suppress the strength of the body’s immune system] for a year or two, during which they are easily susceptible to infections.”
At this stage, the gene therapy for thalassaemia is not yet available on the service scale. Prior to public access, the medical procedure needs to be approved by authorities. More importantly, added Dr Suradej, it requires state support especially in terms of financial investment for internationally-accredited laboratories and other necessary scientific facilities.
Of course, such a cutting-edge medical advancement like gene therapy sounds like a treatment that could never be accessed by an average Joe mainly due to its cost. And right now the technology has not yet been priced as it’s still in a trial phase. Here Dr Suradej says that if the government decides to invest in facilities to allow for gene therapy among Thai patients on a large scale, there is a high chance that the price could be lowered, which translates to more affordability and accessibility among ailing Thais.
“Not only will the technology benefit Thai patients but also those from around the world. Thailand could become a centre for thalassaemia treatments,” he said.
“The technology will also benefit other diseases that can be treated by gene therapy such as Gaucher’s disease [an inherited disorder where a type of fat cannot be degraded] as well as other rare illnesses. Of course, we — researchers — want ordinary people to be able to access the treatment, not just the rich. But that needs financial support from the government. Policy-level decisions need to be made by the government.”
Like other illnesses, a shield is ideal. Although it is a sensitive issue to discuss, prenuptial blood screening is one preventive measure for inherited disorders. Thalassaemia is no exception.
As a physician and researcher who has been working on the blood disorder for decades, Dr Suradej is of the opinion that all parties involved should brainstorm in order to come up with a well-rounded solution to the whole issue.
“Prevention is still vital when it comes to thalassaemia,” he concluded. “The goal is to reduce new cases and cure the existing patients. To achieve it, we need people to think through and come up with a model to curb thalassaemia. This model can then be applied to other healthcare issues and every other disease that wreaks havoc in the country.”