Dwight Koeberl, MD, PhD, professor of pediatrics, has been awarded CTSI transformative funding to pursue A Phase 1 Study of the Safety of AAV2/8-LSPhGAA in Late-onset Pompe Disease.
Pompe disease (glycogen storage disease type II) is a devastating myopathy resulting from a deficiency in an enzyme called acid a-glucosidase in striated and smooth muscle. Despite the availability of enzyme replacement therapy, many patients have poor outcomes, including mortality, due to lack of correction of GAA deficiency in muscle. This clinical decline is correlated to an immune response to the replacement therapy correlated. Dr. Koeberl has developed a gene therapy that provides both continuous production of the enzyme and reduces the immune response to the enzyme. It is hoped that this gene therapy will surpass the benefits achieved with traditional enzyme replacement therapy in Pompe disease.
The CTSI Transformative Agreement will provide critical funding for activities to ensure the first clinical study can begin in 2018. The CTSI Transformative Funding Agreement provides funding up to $500,000 to address the T1 valley of death: the gulf between novel clinically motivated research and products that show safety and efficacy in humans (Coller BS and Califf RM, 2009).
This program seeks to provide funding for development of mature research that if successful will attract significant interest for external partnering. The goal of this program is to enable and accelerate translation of research out of the academic environment (i.e. new company formation, license, or partnership).
The application deadline for 2018 CTSI Transformative Funding is November 6, 2017.