ReGeneX BioSciences, LLC., is leading the effort to translate promising gene delivery applications into a pipeline of next generation personalized therapies for a range of severe diseases with serious unmet needs, has received orphan drug product designation from the US Food and Drug Administration (FDA) for its programme for the treatment homozygous familial hypercholesterolemia (HoFH) using NAV rAAV8 vectors.

Homozygous familial hypercholesterolemia is an ultra-rare, genetic disorder characterized by a defect in the gene coding for the receptor for low-density lipoprotein (LDLR), the major cholesterol-transport lipoprotein, resulting in elevated plasma concentration of LDL and deposition of LDL-derived cholesterol (LDL-C) in tendons and skin and in arteries. For most HoFH patients, current LDL-C lowering treatments are ineffective and life expectancy is greatly reduced due to the inevitable development of life threatening coronary artery disease. If untreated, HoFH patients usually die before the age of 30.

The ReGeneX programme consists of a NAV rAAV8 vector expressing a normal copy of the human low-density lipoprotein receptor (hLDLR) gene. Research from ReGeneX academic collaborators at the University of Pennsylvania, Drs. James M. Wilson and Daniel J. Rader, has shown in a mouse model of HoFH that delivery of functional hLDLR to the liver via NAV rAAV8-mediated gene delivery results in dramatic decreases in circulating LDL-C. In collaboration with its academic collaborators, ReGeneX is developing a clinical program intended to support the licensure of a product for the treatment of HoFH.

“Receiving orphan drug designation from the FDA is a significant milestone for the HoFH program,” said Ken Mills, president and chief executive officer of ReGeneX. “This designation underscores our interests in developing novel therapies for rare, genetic diseases with serious unmet medical need.”