Home / Health / NIH and Apertura Collaborate on NPC1 Breakthrough
NIH and Apertura Collaborate on NPC1 Breakthrough
10 Jul
Summary
- A gene therapy collaboration aims to slow NPC1 neurodegeneration.
- A novel AAV capsid targets the blood-brain barrier for CNS delivery.
- The therapy will be administered systemically via intravenous injection.
A gene therapy initiative is underway between Apertura and several National Institutes of Health (NIH) institutes, including NICHD and NHGRI, to combat Niemann-Pick Disease Type C1 (NPC1). The research focuses on a novel adeno-associated virus (AAV) capsid, known as TfR1 CapX, engineered to breach the blood-brain barrier and distribute therapeutic agents throughout the central nervous system (CNS).
The primary objective is to advance preclinical studies evaluating the intravenous administration of this TfR1 CapX capsid in conjunction with a therapeutic agent for NPC1. This rare, fatal lysosomal storage disorder causes progressive neurodegeneration and cognitive decline, often proving fatal in adolescence. The Ara Parseghian Medical Research Fund is providing crucial financial backing for this multi-year research effort.
Forbes Porter of NICHD highlighted the advantages of systemic AAV gene therapy via intravenous administration due to its reduced complexity and risks. The collaborative goal is to identify a treatment that significantly mitigates neurodegeneration in NPC1 patients. This partnership aims to explore the therapeutic potential of delivering the novel AAV capsid systemically. The agreement encompasses preclinical development, with provisions for advancing through regulatory review and manufacturing if promising results emerge.
