July 09, 2026 —
Apertura Gene Therapy announced that it has entered into a Cooperative Research and Development Agreement, or CRADA, with the Eunice Kennedy Shriver National Institute of Child Health and Human Development and the National Human Genome Research Institute to evaluate systemic delivery of an investigational gene therapy for Niemann-Pick Disease Type C1, or NPC1.
The multi-year agreement will use Apertura’s proprietary TfR1 CapX™ capsid, an engineered AAV capsid designed to bind transferrin receptor 1, or TfR1, cross the blood-brain barrier, and enable broad distribution to the central nervous system after intravenous administration.
The Ara Parseghian Medical Research Fund, a nonprofit organization dedicated to finding treatments or a cure for Niemann-Pick Type C disease, will provide financial support for the research.
NPC1 is a rare, lethal, autosomal recessive lysosomal storage disorder caused by mutations in the NPC1 gene. The disease leads to accumulation of unesterified cholesterol and other lipids in the endo-lysosomal system, affecting both the central nervous system and peripheral tissues such as the liver.
Clinically, NPC1 can cause early-childhood neurodegeneration, progressive cerebellar ataxia, cognitive decline, dementia, and often death during adolescence. Current therapeutic approaches that aim to reduce cholesterol accumulation have shown limited benefit, highlighting the need for disease-modifying strategies that can reach the brain efficiently.
The central goal of the CRADA is to advance preclinical development of intravenous administration of TfR1 CapX in combination with a therapeutic NPC1 construct. If results support further development, the collaborators may expand testing toward pre-IND activities, regulatory review, manufacturing, and eventual clinical evaluation.
Systemic AAV delivery offers potential advantages over more invasive routes because it can reduce procedural complexity and risk. However, achieving efficient and selective CNS delivery remains a major challenge in gene therapy. Apertura’s TfR1 CapX capsid is designed to address this challenge by leveraging receptor-mediated transport across the blood-brain barrier.
The collaboration reflects growing interest in next-generation AAV capsids capable of broad CNS delivery after intravenous dosing. For lysosomal storage disorders such as NPC1, where both brain and peripheral tissues are affected, a BBB-crossing systemic gene therapy approach could be particularly valuable.
While the program remains preclinical, the CRADA brings together Apertura’s capsid engineering platform, NIH scientific expertise, and nonprofit disease-focused support to evaluate whether TfR1 CapX can enable effective gene delivery for NPC1. If successful, the work could help advance a new treatment strategy for a devastating pediatric neurodegenerative disease with high unmet need.
