Familial lecithin: cholesterol acyltransferase deficiency: First-in-human treatment with enzyme replacement
RD Shamburek, R Bakker-Arkema, BJ Auerbach… - Journal of clinical …, 2016 - Elsevier
Background Humans with familial lecithin: cholesterol acyltransferase (LCAT) deficiency
(FLD) have extremely low or undetectable high-density lipoprotein cholesterol (HDL-C)
levels and by early adulthood develop many manifestations of the disorder, including
corneal opacities, anemia, and renal disease. Objective To determine if infusions of
recombinant human LCAT (rhLCAT) could reverse the anemia, halt progression of renal
disease, and normalize HDL in FLD. Methods rhLCAT (ACP-501) was infused intravenously …
(FLD) have extremely low or undetectable high-density lipoprotein cholesterol (HDL-C)
levels and by early adulthood develop many manifestations of the disorder, including
corneal opacities, anemia, and renal disease. Objective To determine if infusions of
recombinant human LCAT (rhLCAT) could reverse the anemia, halt progression of renal
disease, and normalize HDL in FLD. Methods rhLCAT (ACP-501) was infused intravenously …