- Posted October 12, 2012 by
Gene Therapy: Cure for the Future?
Beta thalassemia major (or Cooley's anemia), is a single gene disorder that causes the excessive destruction or degradation of red blood cells due to formation of abnormal hemoglobin molecules. There are an estimated 60-80 million people in the world carrying the beta thalassemia trait alone. Its origins are in the Middle East, Mediterranean and surrounding areas, mainly due to the fact that being a carrier was deemed beneficial to warding off malaria. Patients who receive two copies of this DNA from both parents, however, are left to struggle with the disorder once they are born.
Current treatments for patients with the disorder are limited to lifelong blood transfusions and chelation therapy to rid the body of excess accumulation of iron from these transfusions. Several complications can arise from these treatments, however, as the iron overload then leads to other problems (such as stunted growth and delayed puberty) and can become toxic, and eventually fatal, if not managed properly. Although bone marrow transplantation is considered to be curative, most patients do not have a sibling donor and the chance of graft versus host disease is still a possibility even in such cases where a sibling donor is available.
A study being conducted at Memorial Sloan Kettering Cancer Center in New York offers new hope, however, as it has begun to recruit participants for clinical trials in the hopes of curing the disorder through gene therapy (please see http://www.mskcc.org/blog/launch-stem-cell-therapy-trial-offers-hope-patients-inherited-blood-disorder). The study is the first of its kind (phase 1) and is being conducted by principal investigator Farid Boulad, MD (http://clinicaltrials.gov/ct2/show/NCT01639690?term=lentiviral+thalassemia&rank=1).
With some luck, the trials will help thousands of patients in the US and around the world that suffer from the disorder be able to manage their lives without having to undergo burdensome treatments their whole life....something that many patients have been looking forward to their whole lives, including me :)