Apertura has entered a cooperative research and development agreement (CRADA) with various NIH institutes for a gene therapy to treat Niemann-Pick Disease Type C1 (NPC1).
The company signed the agreement to test the investigational therapy with Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) and the National Human Genome Research Institute (NHGRI).
Non-profit organisation Ara Parseghian Medical Research Fund will provide financial backing for the multi-year research effort.
Under the agreement, researchers plan to use Apertura’s transferrin receptor 1 (TfR1) CapX adeno-associated virus (AAV) capsid, which is designed to bind to TfR1, cross the blood-brain barrier and widely distribute gene therapies to the central nervous system (CNS).
The principal aim is to advance preclinical work on intravenous administration and delivery of TfR1 CapX in combination with a therapeutic construct for NPC1.
NPC1 is a rare and fatal lysosomal storage disorder caused by mutations in the NPC1 gene. The condition leads to neurodegeneration, progressive motor and cognitive decline, and is often fatal during adolescence.
NICHD Section on Molecular Dysmorphology senior investigator and CRADA principal investigator Forbes Porter said: “Systemic delivery of AAV gene therapies by intravenous administration has significant advantages over other methods of administration due to lower complexity and risks.
“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 agreement covers preclinical development with plans to progress through regulatory review and manufacturing if results warrant expansion.
Apertura acting chief technology officer Andrew Steinsapir 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 NPC1.”
In August 2025, Apertura entered several licensing agreements to advance CNS treatments using its TfR1 CapX technology.
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