To those within the rare disease community, it is no surprise that therapies and drugs can sometimes be exorbitantly expensive. However, Spain’s National Markets and Competition Committee (CNMC) is working to combat that for those with cerebrotendinous xanthomatosis (CTX). First reported by Reuters, research-based pharmaceutical company Leadiant Biosciences (“Leadiant”) received a fine of €10.3 million ($10.63M) for selling an orphan drug for CTX at an excessive price. 

Currently, there are fewer than 50 people within Spain who have been diagnosed with CTX. These patients may be treated with therapies including CDCA, a type of bile acid. In the past, Leadiant even sold CDCA-based therapies in Spain for a lower price. However, after being able to gain access to an exclusive supply of CDCA, Leadiant prevented other companies or competitors from creating CDCA-based products. 

After acquiring this exclusive CDCA, Leadiant also increased the price of the therapies for those with CTX. By how much, you might ask? Well, the cost of the new therapies was 14x higher than in the past. 

Now that Leadiant has been fined, the company must lift the exclusivity clause with the CDCA supply, as well as renegotiate (with Spain’s Health Ministry) a new price for the treatment.

What is Cerebrotendinous Xanthomatosis (CTX)? 

The National Organization for Rare Disorders (NORD) describes cerebrotendinous xanthomatosis as:

a rare autosomal recessive genetic disorder caused by an abnormality in the CYP27A1 gene, resulting in a deficiency of the mitochondrial enzyme sterol 27-hydroxylase. The lack of this enzyme prevents cholesterol from being converted into a bile acid called chenodeoxycholic acid.

As a result of the body’s inability to metabolize cholesterol, cholesterol (and cholestanol) begin building up in nerve cells and membranes. This can ultimately cause brain, spinal cord, arterial, eye lens, and tendon damage. Currently, only around 300 cases of CTX have been described in medical literature. The condition is highly variable. Symptoms can (but do not always) include:

• Chronic and treatment-resistant diarrhea
• Cholestatic jaundice in infancy
• Failure to thrive
• Changes in mood, behavior, and personality
• Agitation, aggression, depression, and/or suicidal tendencies
• Growth deficiency
• Enlarged spleen and/or liver
• Cataracts
• Ataxia
• Osteoporosis
• Hypothyroidism
• Xanthomas (benign fatty tumors) that grow on the tendons
• Seizures
• Coronary heart disease
• Cognitive impairment