Apertura Gene Therapy is joining forces with two leading US research institutes to advance a potential new treatment approach for Niemann-Pick Disease Type C1 (NPC1), a rare and fatal genetic disorder that causes progressive neurological decline.
The biotechnology company announced today that it has entered into a multi-year Cooperative Research and Development Agreement (CRADA) with the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) and the National Human Genome Research Institute (NHGRI) to evaluate systemic delivery of an investigational gene therapy for NPC1.
The collaboration will test Apertura’s proprietary TfR1 CapX AAV capsid, a next-generation delivery technology designed to bind transferrin receptor 1 (TfR1), cross the blood-brain barrier, and enable broad distribution of genetic medicines throughout the central nervous system.
The Ara Parseghian Medical Research Fund, a nonprofit organization dedicated to finding treatments and a cure for NPC1, will provide financial support for the research.
NPC1 is a devastating autosomal recessive lysosomal storage disorder caused by mutations in the NPC1 gene. The disease leads to the buildup of cholesterol and lipids in cells, triggering severe neurological damage that can begin in early childhood. Patients often experience progressive cerebellar ataxia, dementia, and, in many cases, death during adolescence.
"Systemic delivery of AAV gene therapies by intravenous administration has significant advantages over other methods of administration due to lower complexity and risks," said Forbes D. Porter, Senior Investigator of the Section on Molecular Dysmorphology at NICHD and a Principal Investigator of the CRADA.
"Our goal is to identify a therapy which significantly slows neurodegeneration in individuals with NPC1, and this collaboration will allow us to explore the potential therapeutic efficacy of systemic administration of this novel AAV capsid."
The research program will focus on preclinical studies designed to support future regulatory review, manufacturing efforts, and potential advancement toward human clinical trials.
Andrew Steinsapir, Acting Chief Technology Officer of Apertura Gene Therapy and Gene Therapy Program Lead at Deerfield Management, said: "Apertura is excited to collaborate with NICHD and NHGRI and explore how an investigational gene therapy that uses TfR1 CapX can be delivered intravenously with the goal of treating Niemann-Pick Disease Type C1."
"We are thrilled about this partnership. With multiple therapies now approved for NPC disease, our focus is on advancing the next generation of treatments, and we believe gene therapy holds tremendous promise," said Sean Kassen, Director of the Ara Parseghian Medical Research Fund.
