Genetic and Congenital

Study suggests safe use of chenodeoxycholic acid treatment in pregnant women with CTX

Continued treatment with chenodeoxycholic acid (CDCA) during pregnancy appears to be safe and beneficial for women diagnosed with Cerebrotendinous Xanthomatosis (CTX), according to a study. CTX, caused by biallelic pathogenic variants in CYP27A1, impairs the synthesis of cholic acid (CA) and chenodeoxycholic acid (CDCA), leading to the accumulation of harmful...