According to a story from pm360online.com, the biotechnology company Amicus Therapeutics recently announced that the first patient has received treatment in the company’s Phase 3 clinical trial testing the company’s experimental therapy AT-GAA as a treatment for adults with Pompe disease. Amicus is committed to the development of innovative therapies for rare, metabolic diseases.
About Pompe Disease
Pompe disease, which is also known as glycogen storage disease type II, is a genetic, metabolic disorder. This disease can cause damage to the nerves and muscles throughout the body, and is the result of the excessive buildup of glycogen in the cellular lysosome. This occurs because of the deficiency of the certain enzyme. The disease is the result of genetic mutations that appear on chromosome 17. Symptoms of Pompe disease vary depending on when it appears. They can include poor growth, trouble feeding, enlarged heart, poor muscle tone, muscle weakness, and breathing problems. There is also a late onset form that mostly differs by the absence of heart abnormalities. The primary treatment for Pompe disease is enzyme replacement. While this treatment can improve symptoms and survival, a high dosage is necessary and it primarily only halts disease progression. To learn more about Pompe disease, click here.
About The Clinical Trial
This trial will compare the effectiveness of AT-GAA to the current treatment standard enzyme replacement therapy. This Phase 3 trial is expected to further reinforce the encouraging data obtained during earlier Phase 1/2 clinical trials of the drug, which began in 2016. The study is expected to enroll about 100 patients, who will receive either AT-GAA or the enzyme replacement therapy. The treatment period of the study will last for a total of 52 weeks. All participants will be eligible to receive AT-GAA in an open label study after the initial treatment period.
The primary endpoint of this study will be the six minute walk test, which has become the common standard for testing treatments for disorders like Pompe disease. Other measures will include changes in lung and muscle function and muscle strength. Enrollment for the study should be fully completed by early next year. To learn more about this clinical trial, click here.
