Gene therapy, the future of medicine: A cure for beta-thalassemia?

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Gan Pou Wee
M.Pharm, MBBS, BCPS, R.Ph

Beta-thalassemia is a genetic disease of the red blood cells. Patients with this disease are unable to produce fully functioning red blood cells and hence have severe anemia that require regular blood transfusions. Beta-thalassemia is endemic (common in a certain area) in Malaysia and is the most common inherited blood disorder. It is estimated that 120-350 babies are born with thalassemia major every year and the total number of patients with this disorder is increasing with time.

 

Complications of beta-thalassemia

Apart from the burden of having to visit the hospital regularly for day-long blood transfusions, these patients also suffer from the complications of regular blood transfusions. Patients may have iron overload as a consequence of regular blood transfusions which in-turn requires constant injections to remove the excess iron built-up in the patients’ body. Furthermore, the malfunctioning red blood cells produced by the patient ends up being “culled” by the liver and spleen which increases their workload. This causes the liver and spleen to be enlarged and the red blood cells that were “culled” causing jaundice (which can be seen as yellowing of the skin and eyes).

 

Gene therapy: A new hope

In 2014, the then 19 year-old Wandasun Sihanath recalled that there was not a time where she did not require blood transfusions to treat her beta-thalassemia. She was the first person to participate in NORTHSTAR, an international clinical trial which uses gene therapy to replenish her faulty red blood cells. That was the beginning of a life without blood transfusions for Ms Sihanath.

The director of the Thalassemia Program at Ann & Robert H. Lurie Children’s Hospital of Chicago, and the lead investigator of the NORTHSTAR study, Alexis Thompson, said that they were greatly encouraged by the results.

With the current therapy for beta-thalassemia being limited by inconvenience and significant side effects, this one-off therapy with minimal side-effects may indeed transform patient’s life and provide new hope for them.

 

Gene therapy

Gene therapy uses functioning genes as medication for people who have malfunctioning gene(s). This is done by altering the patient’s defective gene, thus making it functioning again, and transplanting the cells with the corrected gene back into the patient’s body.

 

NORTHSTAR-2 Phase 3 trial

The NORTHSTAR-2 clinical study is currently in Phase 3 trial. This means that the researchers are studying the potential therapy in patients to monitor its efficacy and side-effects. This trial is currently recruiting patients. If you have this disease or know anyone with this disease, you may click here (http://northstarclinicalstudies.com/northstar-2-study/) to apply. The nearest centre to join the trial is in Thailand.

 

References

  1. Patient with B-Thalassemia major treated with new drug is transfusion-free | Lurie Children’s [Internet]. Luriechildrens.org. 2014 [cited 25 August 2017]. Available from: https://www.luriechildrens.org/en-us/news-events/Pages/patient_with_bthalassemia_major_treated_with_new_drugs_transfusion_free_180.aspx
  2. Northstar | » Northstar Study [Internet]. Northstarclinicalstudies.com. 2017 [cited 25 August 2017]. Available from: http://northstarclinicalstudies.com/northstar-study/

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