The rare disease known as LCAT or Lecithin-Cholesterol-Acyl-Transferase (LCAT) deficiency is a disease characterized by a rare disorder of lipoprotein metabolism within the human body. Clinically, the main symptoms are corneal opacity, renal failure and hemolytic anemia. Biochemically, it results in a very low HDL-cholesterol level.
Prevalence
There are about 30 families and the prevalence is thought to be less than 1/1,000,000 2 worldwide, but it is reported to be highly underdiagnosed.
Cause
Lecithin-cholesterol acyltransferase deficiency is linked to a mutation of the gene on chromosome 16 that codes for the LCAT enzyme. The role of the enzyme is to catalyze the formation of cholesterol esters in lipoproteins, and its mutation results in a deficiency in enzyme activity that leads to the accumulation of lipid deposits in body tissues such as the cornea, red blood cells and kidneys.
The complete form of LCAT deficiency is called "familial LCAT deficiency (FLD)", while the partial form is called "fish eye disease (FED)".
To date, more than 85 mutations in the LCAT gene have been identified, with LCAT deficiency following an autosomal recessive inheritance.
Treatment
CER-001 can avoid the need for dialysis with the disappearance of visual blur. This clear improvement in visual function is still observed after 1 year of follow-up.
Scientific publications involving CER-001
Faguer et al. Administration of the High-Density Lipoprotein Mimetic CER-001 for Inherited Lecithin-Cholesterol Acyltransferase Deficiency.
(https://www.acpjournals.org/doi/10.7326/L20-1300)