According to a story from MedCity News, a patient with the rare blood disorder beta thalassemia will be the first patient dosed in a Phase I/II clinical trial involving a gene therapy developed with CRISPR/Cas9-based technology. The trial is sponsored by Vertex Pharmaceuticals and CRISPR Therapeutics and the experimental therapy is called CTX001.
About Beta Thalassemia
Beta thalassemia is a group of genetic disorders which affect the blood. These disorders are characterized by the abnormal production of hemoglobin, the substance in red blood cells which allows them to transport oxygen. The severity of the disorder can vary widely from person to person and depends on the present mutation. These mutations affect the HBB gene which is found on chromosome 11. These mutations can be easily passed down within families. Symptoms of beta thalassemia major, the most severe form, include spleen problems, skeletal abnormalities, poor growth, anemia, liver problems, diabetes, osteoporosis, and heart failure. Treatment for beta thalassemia may include blood transfusions, surgery, and bone marrow transplant, which can be curative for some children. There is a need for improved treatments for patients with severe cases. To learn more about beta thalassemia, click here.
About The Trial
The clinical trial of CTX001 is ultimately expected to include a total of 45 patients with transfusion-dependent beta thalassemia. The treatment is to be administered following a conditioning process with the chemotherapy agent busulfan. Another trial of 45 patients will be testing the same therapy for sickle cell anemia.
The Potential of CRISPR
CRISPR has consistently made headlines due to a number of controversies as well as excitement surrounding its potential for treating and potentially curing genetic diseases as well as its utility in CAR-T cell therapies, which are used to treat cancer. The treating of this first patient marks a significant milestone in the continued development of the technology and will be a critical test of its capabilities.
CRISPR recently caused international uproar when Chinese scientist He Jiankui claimed he had altered the DNA of twin girls using the technology to make them immune to the HIV virus. More recently, reports have emerged that the modifications he made may have enhanced the girls’ memory and learning ability.