Treatment for CTX patients ? Cerebrotendinous xanthomatosis (CTX) is a rare genetic disorder where cholesterol and cholestanol accumulate in various tissues throughout the body. CTX causes progressive neurological degeneration in affected individuals, however symptoms can improve or stabilize with chenodeoxycholic acid (CDCA) treatment.
This article outlines a clinical evidence review regarding the use of CDCA for treating CTX, conducted by the National Institute for Health and Care Excellence (NICE). NICE is an independent organization that provides guidance and recommendations to the UK National Health Service (NHS). Additionally, we will explore how CTX patients in the United Kingdom can benefit from CDCA therapy.
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Table of Contents
What is Cerebrotendinous Xanthomatosis (CTX)?
CTX is a rare genetic disorder characterized by the deficiency of sterol 27-hydroxylase – an important enzyme that synthesizes bile acids to help digest and absorb fats. Without sterol 27-hydroxylase, cholesterol and cholestanol (a cholesterol derivative) build up in various bodily tissues with detrimental effects on multiple organs and systems.
CTX is an autosomal recessive disorder where an individual must inherit two defective copies of the responsible gene (CYP27A1) from each parent to develop the disease. The disease mainly affects the central nervous system, leading to progressive neurological deterioration, which can persist throughout the patient’s life with various degrees of severity.
Diagnosis for CTX is typically conducted via clinical evaluation, biochemical testing, and genetic testing.
Symptoms of CTX
CTX is characterized by various symptoms that include:
- Cognitive impairment, including memory problems, executive dysfunction (difficulties with problem-solving, planning, and organizing), concentration and attention issues, communication challenges, and more
- Movement disorders such as a lack of coordination and balance, involuntary muscle contractions, increased stiffness, and tremors
- Tendon xanthomas (yellowish deposits in tendons that cause nodules, swelling, and thickening), leading to physical discomfort, pain, limited range of motion, or tearing
- Digestive issues such as chronic diarrhea
- Eye problems such as cataracts
- Atherosclerosis (narrowing and hardening of arteries)
Symptoms of CTX vary widely among individuals depending on the time since the onset of the disease, the patient’s age, and the severity of the condition.
CTX Diagnosis in the UK
CTX may be more prevalent in the UK than widely believed, according to a recent study in the Orphanet Journal of Rare Diseases. The paper outlines and expands on evidence that suggests CTX is underdiagnosed in the UK and recommends better detection strategies to diagnose the condition earlier to slow down or prevent disease progression.
Chenodeoxycholic Acid (CDCA) Treatment for CTX
Chenodeoxycholic acid (CDCA) treats CTX by addressing the underlying enzyme deficiency with effects that include:
Bile Acid Replacement
CDCA is a bile acid that replaces acids typically deficient in CTX patients. By restoring the production of bile acids to normal levels, CDCA can help decrease the accumulation of cholesterol and cholestanol in various tissues.
Improved Metabolic Function
Treatment with CDCA supports cholesterol metabolism by helping the body excrete extra cholesterol and cholestanol through the bile. This helps to reduce cholesterol and cholestanol deposits in various body parts, including nerve cells, membranes, and other tissues, to prevent or slow down neurological deterioration associated with CTX.
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Symptom Management
CDCA treatment reduces CTX symptoms, including digestive problems and neurological issues. CDCA therapy may also boost cognitive function and prevent further progression of the condition.
UK Clinical Evidence Review of CDCA Treatment for CTX
A recent study by the National Institute for Health and Care Excellent (NICE) examined the use of CDCA to treat CTX in UK patients.
The review outlined two small retrospective cohort studies, case series, and case reports with findings that suggest CDCA improves or stabilizes serum cholestanol levels and urinary bile alcohol to restore normal bile acid production. Further, neurological disability and dependence, as measured by the Rankin Scale and the Expanded Disability Status Scale, improved or remained stable for a significant percentage of study participants.
CDCA Safety Profile
According to the NICE review, the safety profile of CDCA appears favorable, with mostly transient adverse effects that range from mild to moderate. While the treatment was mostly well-tolerated, the most significant side effects were constipation and toxic hepatitis in some patients.
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CDCA FAQ
Chenodeoxycholic acid (CDCA) is a bile acid used to treat gallstones caused by Cerebrotendinous xanthomatosis (CTX) – a rare genetic disorder where cholesterol and cholestanol accumulate in various tissues throughout the body.
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