A struggle with thalassaemia

Thalassaemia is the most common genetic blood disorder that is prevalent in India. We must not forget that while there is a high incidence of inherited diseases in South Asia, India has the highest number of thalassaemia majors and carriers (or those who are asymptomatic). It is estimated that there are more than 100,000 thalassaemia majors in the country or an average prevalence rate of 3-4% carriers in the general population. Each year, there are 10,000 children born with thalassaemia major.

As the disorder ‘reduces the production of functional haemoglobin, causing a shortage of red blood cells and low levels of oxygen in the bloodstream’, patients require lifelong blood transfusion, iron chelation therapies and other treatment. There is still no cure other than a bone marrow transplant. As this has to be done in early childhood, it is not a workable cure as yet for adults. Thalassaemia causes a significant economic burden on the country due to rising health care and drug expenses. Given the genetic nature of the disease, it is in India’s best interests to focus on prevention and a cure. We must keep in mind the demographic status of thalassaemia which reflects a rising percentage of adults. Their only curative option is gene therapy.

Gene therapy research and clinical trials have been going on for the past 25 years or so in an effort to correct the mutated ‘globin’ gene that is responsible for normal haemoglobin production. A biotechnology company in the U.S., Bluebird Bio, has been conducting clinical studies to investigate the potential for LentiGlobin gene therapy as a final cure for transfusion-dependent ß-thalassaemia (TDT). In April 2018, the company announced positive results in clinical studies that used this gene therapy. Here, the 22 study patients did not need blood transfusions. What is even more encouraging is the company’s move to file for technology approval in the European Union in order to complete the trials and bring the treatment to patients as soon as possible.

Cost is a barrier

While the development has raised the hopes of patients and families, the biggest obstacle is its cost. Therapies such as Luxturna from Spark Therapeutics, to cure hereditary blindness, cost a whopping $850,000 (approximately ₹5 crore) for one-time treatment. The prohibitive cost of such therapies has led to companies withdrawing from them, as in the case of Glybera., which was developed by the company Uniqure to treat the rare disorder,lipoprotein lipase deficiency (LPLD). Most patients in India cannot pay for such expensive treatments in the absence of any government support and the complete lack of medical insurance for genetic disorders.

India has no dearth of talented and ethical medical researchers and doctors who can engage in gene therapy research. Sadly, other than what is done by one or two doctors (one of them is at the Christian Medical College, Vellore), there are no clinical studies in this direction. Many a patient who asks about gene therapy with his or her haematologist has often come away depressed and sorely disappointed. Clearly, this needs to change. When the world has woken up to the prospects of gene therapy for thalassemia, India needs to show push and initiative in this direction. The government, medical research institutes and hospitals need to start developing low-cost gene therapies for thalassaemia. The Department of Biotechnology (DBT) has constituted a task force (“Stem Cell Research and Regenerative Medicine”) to encourage translational research. On the regulatory front, there are clear guidelines for “Stem Cell Research and Therapy” that have been formulated jointly by the DBT and the Indian Council of Medical Research. The new Drugs and Clinical trials Rules, 2018 encourage and motivate clinical research for orphan diseases. Some of the benefits here include no charges for clinical research/trials of orphan drugs; defining orphan drugs for diseases affecting less than 2 lakh people in India; and provision to expedite the trial process for rare diseases.

The time is ripe for medical researchers, doctors, research institutes and early-stage clinical companies to enter the arena and work on a feasible gene therapy solution for thalassaemia. If successful, it can pave the way for therapeutics for other rare, genetic disorders in India.

Dr. Namitha A. Kumar is Research Director, Centre for Health Ecologies and Technology, Bengaluru

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Printable version | Aug 14, 2022 8:41:51 pm |