A new collaboration between Apertura and the National Institutes of Health (NIH) aims to advance a potential gene therapy for Niemann-Pick Disease Type C1 (NPC1), a rare and often fatal neurodegenerative disorder.

Under a newly signed Cooperative Research and Development Agreement (CRADA), NIH and Apertura researchers will evaluate the company's transferrin receptor 1 (TfR1) CapX adeno-associated virus (AAV) delivery platform in preclinical studies for NPC1. The research is supported by the Ara Parseghian Medical Research Fund.

The program will investigate whether TfR1 CapX can safely deliver a therapeutic NPC1 gene through a standard intravenous infusion. Designed to cross the blood-brain barrier and distribute broadly throughout the central nervous system, the platform could offer a less invasive approach to treating neurological diseases.

NPC1 is caused by mutations in the NPC1 gene, leading to progressive loss of motor and cognitive function and significantly shortened life expectancy. Effective treatment has been limited in part by the challenge of delivering therapies to the brain.

The collaboration initially focuses on generating preclinical data, with the potential to advance into manufacturing and regulatory development if results are positive.

For Apertura, the agreement expands efforts to apply its TfR1 CapX technology across central nervous system disorders and highlights growing interest in delivery platforms capable of reaching the brain through systemic administration.

Inventors from both the NIH Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) and the National Human Genome Research Institute (NHGRI) are involved in this CRADA. You can learn more about CRADAs with the NIH here. You can find collaboration opportunities with NICHD here and collaboration opportunities with NHGRI here.