Clinical Trials & Patient Registry

Clinical Research

The investigational therapies explored in clinical trials are key to improved therapies among the whole CTX community. All studies, both privately and government funded, are listed on clinicaltrials.gov.

 

For more information about clinical trials being conducted by the National Institute of Health (NIH) Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: prpl@cc.nih.gov

 

For information about clinical trials conducted in Europe, contact:
https://www.clinicaltrialsregister.eu/

Privately Funded Clinical Trials

Study to Evaluate Patients with Cerebroteninous Xanthomatosis – Travere Therapeutics

In the RESTORE study, doctors will look at markers of CTX in the urine, to see if they are lowered when CDCA is used to treat CTX. Doctors will also look at the safety and potential side effects of CDCA treatment.

The study has 2 groups: Adult (16 years of age and older) and Pediatric (under 16 years of age). In the Adult group, patients will switch from taking CDCA to taking a placebo for a short period. Temporarily taking a placebo will allow the doctors to better understand what effects CDCA has in these patients. In the Pediatric group, no placebo will be given. All patients will receive an appropriate dose of CDCA, based on their weight and how well they tolerate the drug.

In both groups, doctors will look at different markers of the disease, such as laboratory tests, weight, and disease severity.

The REPLACE Registry for Cholbam®/Kolbam® (Cholic Acid) – Travere Therapeutics

This is a prospective, observational, non-interventional patient registry designed to document long term safety and clinical outcomes for 10 years in patients treated with Cholbam/Kolbam, including those who have been using Cholbam/Kolbam and those who start Cholbam/Kolbam treatment at enrollment.

Patient Registry

The Sterol and Isoprenoid Diseases Consortium (STAIR) is a team of doctors, nurses, research coordinators, and research labs throughout the U.S., working together to improve the lives of people with this condition through research. The Steroid and Isoprenoid Research Consortium (STAIR) has a registry for patients who wish to be contacted about clinical research opportunities.