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Genetic and Congenital

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

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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 metabolites like cholestanol and C27 bile alcohols. Treatment with CDCA has been shown to decrease the accumulation of these metabolites and slow disease progression. However, concerns about its safety during pregnancy have been raised due to previous animal studies indicating potential fetal harm.

The case series included 19 pregnancies in 9 women with CTX, some of whom continued CDCA treatment throughout pregnancy while others did not. The results revealed that in 11 pregnancies where mothers continued CDCA treatment, no complications were reported. Newborns from these pregnancies were born at or near full term, with normal birth weight and Apgar scores.

In contrast, in 8 pregnancies where mothers did not receive CDCA treatment, 2 newborns experienced elevated bilirubin soon after birth. Additionally, one woman who ceased treatment during her pregnancy witnessed a neurological deterioration.

These results highlight the importance of further research into the safety and efficacy of CDCA treatment in pregnant women with CTX. The study, while offering promising insights, calls for larger-scale investigations to validate these findings and to establish comprehensive guidelines for the management of CTX during pregnancy.

Reference
Zaccai TCF, Hassin-Baer S, Kfir NC, et al. Chenodeoxycholic acid (CDCA) treatment during pregnancy in women with cerebrotendinous xanthomatosis (CTX): Lessons learned from 19 pregnancies. Genet Med. 2024;26(5):101086. doi: 10.1016/j.gim.2024.101086. Epub ahead of print. PMID: 38288684.

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