A rare disease gets a breakthrough: Ctexli approved for cerebrotendinous xanthomatosis

Mohammud W. Ahmud; Muhammad Mustafa; Wajiha Asim

doi:10.18203/2319-2003.ijbcp20251852

Authors

Mohammud W. Ahmud Dow International Medical College, Dow University of Health Sciences, Karachi, Sindh, Pakistan https://orcid.org/0009-0005-7991-8889
Muhammad Mustafa Dow International Medical College, Dow University of Health Sciences, Karachi, Sindh, Pakistan https://orcid.org/0009-0008-3534-4141
Wajiha Asim Dow International Medical College, Dow University of Health Sciences, Karachi, Sindh, Pakistan https://orcid.org/0009-0005-6715-6805

DOI:

https://doi.org/10.18203/2319-2003.ijbcp20251852

Keywords:

Ctexli, Cerebrotendinous xanthomatosis , Chenodeoxycholic acid

Abstract

Cerebrotendinous xanthomatosis (CTX) is a rare, autosomal recessive lipid storage disorder caused by mutations in the CYP27A1 gene, leading to sterol 27-hydroxylase deficiency and cholestanol accumulation. Ctexli’s features range from infantile diarrhea to adult-onset neurodegeneration. Early diagnosis and treatment with chenodeoxycholic acid (CDCA) can significantly improve outcomes. Recently, the FDA approved Ctexli (chenodiol), a synthetic form of CDCA, as the first standardized treatment for CTX. Clinical trials demonstrated its efficacy in reducing plasma cholestanol and urinary bile alcohols. Ctexli’s approval represents a significant advancement, enabling more consistent therapy and highlighting the importance of early intervention in managing CTX.

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References

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