According to a story from globenewswire.com, the drug developer Agios Pharmaceuticals, Inc. has recently released a preliminary analysis of phase 2 trial findings that have served to establish proof-of-concept for the company’s experimental treatment AG-348 (also known as mitapivat) in patients with thalassemia that are not transfusion-dependent. Agios is focused on the development of treatments that utilize cellular metabolism in order to treat rare genetic diseases and cancer.
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 thalassemia major, the most severe form, include spleen problems, skeletal abnormalities, poor growth, anemia, liver problems, diabetes, osteoporosis, and heart failure. Treatment for 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 thalassemia, click here.
About The Trial
The phase 2 trial has so far enrolled 12 patients out of a planned 17, and includes patients with both beta and alpha thalassemia. Patients that were treated with mitapivat were initially dosed at 50 mg two times a day. This dose level was maintained for six weeks and was subsequently increased to 100 mg, with this level of treatment still ongoing. Of the eight patients evaluated so far, seven of them saw increases in hemoglobin by at least 1.0 g/dL, with the mean increase being 1.76 g/dL.
Mitapivat is a first in class therapy with a unique mechanism of action. The drug is considered a small molecule allosteric activator of both various mutated and wild-type forms of pyruvate kinase-R (PKR) enzymes. The findings from the study so far suggest that activation of PKR has the potential to be useful for thalassemia patients and suggests that the scope of development for the drug could be widened in the future to include other disorders of the blood.