One of the joys of immunology is the opportunity to work with rare diseases and to introduce new and improved treatments. This article explores the extraordinary innovation of in vivo CRISPR-Cas9 gene editing.
Summary
- HAE-C1INH is a rare, disabling condition caused by insufficient regulation of the contact pathway.
- Kallikrein inhibitors are effective in the prophylaxis of HAE attacks.
- NTLA-2002, a CRISPR-Cas 9 targeted at the liver prekallikrein gene, can be delivered in a single, well-tolerated intravenous infusion.
- NTLA-2002 results in ongoing suppression of plasma kallikrein and freedom from HAE-related angioedema.
- Similar CRISPR-Cas9 products could be developed to target other genes and/or organs, providing a new class of drug.
Hereditary angioedema (HAE) is a rare inherited disorder with an estimated prevalence of 1:50,000. It causes episodic angioedema, which can affect the airways (and can result in mortality), gastrointestinal tract (mimicking an acute abdomen and sometimes resulting in inappropriate surgery) and limbs (which can result in disability and inhibited daily functioning).