Progressive familial intrahepatic cholestasis type 3 (PFIC3) is a genetic liver disorder caused by mutations in the ABCB4 gene encoding multidrug resistance protein 3 (MCP3) in humans, a biliary phospholipid transporter. Rectify Pharmaceuticals Inc. has developed the novel compound RTY-694, a dual-acting MDR3/BSEP positive modulator that increased the protein function of both MDR3 and BSEP.

Sharp Therapeutics Corp. has reported new preclinical data supporting its novel therapeutic approach for Niemann-Pick disease type C (NPC).

X-linked Alport syndrome is an inherited kidney disease caused by pathogenic mutations in the COL4A5 gene. Patients develop hematuria, proteinuria and kidney function decline leading to end-stage renal disease. Nionyx Bio Inc. has developed ONYX-101, a novel kidney-targeting therapeutic designed to ensure durable COL4A5 restoration through dual-vector AAV delivery using NYX capsids that were optimized for kidney targeting.