Editorial Comment to Regulatory News

Abstract

Access to affordable chenodeoxycholic acid (CDCA) is essential for patients with cerebrotendinous xanthomatosis (CTX), a rare, inherited metabolic disorder that is likely to require lifelong treatment. CDCA was discovered in the 1970s as a treatment to prevent neurological decline and improve the quality of life of CTX patients. It is therefore essential that it is available at a reasonable price.

In 2021, the Dutch Authority for Consumers and Markets (ACM) fined Leadiant Biosciences nearly €20 million for abusing its dominant market position. After acquiring the rights to CDCA in 2008, Leadiant increased the price from €46 to over €14 000 per 100 capsules by 2017—despite the drug having been available and used off label for decades. The ACM concluded that these price hikes were not justified by innovation or new research and amounted to unfair exploitation of market exclusivity. Leadiant appealed the ruling, but in February 2025, the District Court concluded that ACM's decision was right [1]. Additional fines by other EU member states were imposed on Leadiant. Because the pricing jeopardized access in the Netherlands, a magistral (compound) preparation of CDCA was used by patients instead.

Following the registration of CDCA for treatment of CTX in the EU, it is important that CDCA (chenodiol, brand name Ctexli) is now also approved in the United States, marketed by Mirum Pharmaceuticals [2]. This offers hope for wider access to this crucial treatment. Of interest is that CDCA was historically used to treat gallstones but has already been used for decades to treat CTX, with many reports showing its well-established use. In the EU, retrospective data were sufficient to approve the product. However, in the US, a double-blind study was requested in a small group of patients, which showed that the treatment, not surprisingly, was effective in reducing the characteristic bile acid accumulations in plasma and urine [2]. Long-term clinical outcomes were considered unachievable, as the treatment is, indeed, standard of care. While it is important to support approval with high-quality data, it is interesting to investigate whether the investment in this small-scale study will support the argument for the price of the drug in the US. A recent publication mentions a list price of US$60487 per 100 tablets [3]. This equates to an annual cost for an adult patient of over US$660000. That's even four times higher than in the EU. For the marketing of this type of drug, whose value has in fact long been established, a cost-based price would be more socially justifiable. As healthcare professionals and patients, we want to emphasize that regulatory approval must be followed by ethical pricing to ensure that all patients—regardless of geographic location or socioeconomic status—receive the medicines they need.

This case underscores the crucial role of oversight and advocacy in protecting patients with rare diseases from excessive pharmaceutical prices, and the need for a healthcare system that values access as much as innovation.

The authors declare no conflicts of interest.