Evinacumab as an adjunct to lipid-lowering therapy resulted in sustained low-density lipoprotein cholesterol (LDL-C) lowering and improved cardiovascular event-free survival in patients with homozygous familial hypercholesterolemia (HoFH). The real-world OLE ELIPSE HoFH study...

A real-world study assessed the use of maralixibat in children with Alagille syndrome who would not have been eligible for this treatment under clinical trial parameters and found that it effectively reduced pruritus...

The National Organization for Rare Disorders (NORD) launched Project Rare Disease Advisory Council (RDAC) in 2020. Recently, Mississippi became the twenty-eighth state to establish an RDAC, with the governor signing a new bill...

While genetic testing is on the rise – and showing promise for patient selection – innovative treatment options are lagging. But some breakthroughs could soon emerge Inherited retinal diseases (IRDs) are a group...

Combined liver-kidney transplantation (CLKT) and kidney after liver transplantation (KALT) show promise in treating oxalate bone disease in pediatric patients with primary hyperoxaluria type 1 (PH1), according to a study. The study highlights...