The U.S. Food and Drug Administration (FDA) has approved a new oral medication, Ctexli, for the treatment of cerebrotendinous xanthomatosis (CTX), a rare genetic lipid storage disorder. CTX affects the body’s ability to properly metabolize cholesterol, leading to severe complications over time. With this approval, Ctexli becomes the first FDA-approved drug specifically designed to manage CTX, offering hope to patients who previously had limited treatment options.
Cholesterol is a waxy, fat-like substance that plays a crucial role in the body’s normal functioning. It is mainly produced in the liver and is essential for the formation of cell membranes, hormones, and vitamin D. However, when cholesterol metabolism is disrupted, it can lead to serious health conditions.
In individuals with CTX, a mutation in the CYP27A1 gene results in the lack of a key enzyme responsible for breaking down cholesterol properly. As a result, bile acid production is reduced, leading to an accumulation of harmful cholesterol byproducts in different parts of the body, including the brain, liver, skin, and tendons. Over time, these deposits called xanthomas can cause severe neurological damage, movement disorders, jaundice, and increase the risk of heart and lung diseases.
Ctexli contains chenodiol (chenodeoxycholic acid), a natural bile acid that helps replace the missing bile acids in people with CTX. By restoring this critical component, the drug can help:
Reduce the buildup of harmful cholesterol byproducts
Protect vital organs from damage
Improve bile acid production and cholesterol metabolism
The FDA has recommended a dosage of 250 mg, taken three times a day.
The approval of Ctexli was based on a 24-week clinical trial that evaluated its effectiveness in patients aged 16 to 55. Participants were randomly assigned to receive either 250 mg of Ctexli three times daily or a placebo. The study found that Ctexli significantly lowered the levels of harmful cholesterol breakdown products in patients with CTX compared to those receiving the placebo.
While the drug has been proven effective in adults and older adolescents, its safety and efficacy in children remain uncertain. More research is needed before it can be recommended for younger patients.
As with any medication, Ctexli comes with potential side effects. The most commonly reported ones include:
Headaches
Stomach pain
Diarrhea or constipation
High blood pressure
Muscle weakness
Upper respiratory infections
Additionally, the drug carries a liver warning. Patients with existing liver disease or bile duct issues should be monitored closely while taking Ctexli. Signs of potential liver problems include:
Persistent stomach pain
Nausea and fatigue
Dark urine
Unexplained bruising
Yellowing of the skin or eyes (jaundice)
Patients are advised to consult their healthcare provider if they experience these symptoms.
Before starting Ctexli, patients should inform their doctors about all other medications and supplements they are taking, including:
Antacids
Blood thinners
Over-the-counter medications
Vitamins and herbal supplements
This is important to prevent potential drug interactions that could affect Ctexli’s effectiveness or increase the risk of side effects.
With the approval of Ctexli, patients with CTX now have access to the first FDA-approved treatment designed specifically for their condition. This marks a significant milestone in managing this rare and debilitating disease, offering improved quality of life and better long-term health outcomes.
As research continues, experts hope to expand treatment options and explore additional therapies to help individuals affected by CTX, particularly younger patients who may benefit from early intervention.
