According to a story from Endpoints News, the Chief Science Officer for Spark Therapeutics is close to finishing up his first year with the company. His name is Federico Mingozzi, and he came to the company with years of experience working on the development of a new AAV gene therapy that will hopefully treat Pompe disease one day.
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 a genetic mutation that appears 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.
SPK-3006
The drug in development by Spark is called SPK-3006, and it has recently completed some preclinical, late stage testing. The company is hoping to move towards the clinical stage of development soon and is hoping to produce some more proof of concept information with further research in human participants. If successful, gene therapies such as SPK-3006 could be an effective replacement for the costly enzyme replacement therapy that is the typical treatment standard for Pompe disease.
Intense Competition
However, the gene therapy field is about to become a crowded one. For example, Amicus recently announced that it will also be developing an AAV style gene therapy that it hopes will treat not only Pompe disease, but CDLK5 and Fabry disease as well. It is pretty clear that the gene therapy field is up and coming, and the FDA expects to receive around 150 applications for gene therapy drugs by the end of the year.
