Innovations in gene therapy solutions are being made every day, improving treatments and creating cures for many previously untreatable genetic diseases. In fact, According to a recent report on global trends in gene therapy, the number of gene therapy products in development doubled between 2012 and 2015. The exciting news is that, based on a recent study within the scientific community, sickle cell disease may soon be treatable with gene therapy.
It is estimated that 50 million people worldwide carry the genetic mutation for sickle cell disease. This debilitating disease is characterized by the production of nonstandard hemoglobin and deformed erythrocytes, resulting from a mutation affecting that β-globin. The disease only occurs when a person inherits two copies of the abnormal gene, and as a result their red blood cells become crescent shape rather than disc shaped, creating many problems ranging from pain and fatigue to life-threatening damage of internal organs.
A study was published last week in the New England Journal of Medicine reporting early success using gene therapy techniques to treat sickle cell anemia. Participating scientists and physicians are hopeful that the method will not only treat symptoms, but also cure patients of all markers of the disease. This incredibly promising study comes from a team of physicians in the Necker Children’s Hospital biotherapy department. Their goal from the outset was to genetically alter the patient’s own blood stem cells so that they no longer produced the abnormal hemoglobin cells that cause sickle cell disease in the first place.
The recently developed treatment began with extracting a stem cell supply from the patient’s bone marrow, and then used chemotherapy to wipe out the patient’s remaining stem cells. Physicians then used a modified virus to introduce and “anti-sickling” version of the β-globin gene into the stem cell supply they removed prior to the chemotherapy treatment. The altered cells were then administered to the patient intravenously. Fifteen months after the initial treatment, the first patient, a 15 year old from France, is doing extremely well and has returned to normal activities.
Even with the encouraging results of this case, it is important to remember that this is only one patient and that 15 months is a relatively short time to determine the long-term effectiveness of a treatment. However, this small victory is opening possibilities for larger studies on gene therapy treatments for sickle cell disease to take place in order to answer the remaining questions of effectiveness and safety. This is just another example of how gene therapy can make a significant impact on the treatment of diseases in patients who previously had no possibility of a cure or even receiving an impactful treatment.
Interested in how BioAgilytix can help support your gene therapy projects? Speak to one of our scientists today or visit our Gene Therapy Solutions page to learn more about our approach and expertise in this area.