CompletedPhase 3

Study to Evaluate Patients With Cerebrotendinous Xanthomatosis (RESTORE)

United States, Brazil19 participantsStarted 2020-01-31

Plain-language summary

The study is made up of two cohorts: a randomized double-blind crossover (placebo withdrawal with rescue) study among patients ≥ 16 years of age (adult cohort) and an open-label dose titration study among pediatric patients ≥1 month and \<16 years of age (pediatric cohort)

Who can participate

Age range

1 Month

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion criteria

. Male or female at least 1 month or older at screening.
. Clinical diagnosis of CTX with biochemical confirmation.
. Women of childbearing potential must agree to the use of one highly reliable method of contraception during the study, plus one additional barrier method during sexual activity.
. Males must be surgically sterile, or males and their sexual partners must together agree to use medically accepted methods of contraception that are considered highly reliable during the course of the study.

Exclusion criteria

. Genetic testing does not confirm CTX.
. Malabsorption disorder or confounding inflammatory gastrointestinal condition (for example, irritable bowel syndrome).
. Documented history of heart failure.
. Treated with medications which impact bile acid absorption such as bile acid sequestering agents (eg, cholestyramine, colestipol, aluminum-based antacids.
. Treated with cholic acid medication.
. Female patient who is pregnant, plans to become pregnant during the course of the study, or is breastfeeding.

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Change From Baseline in Urine 23S-Pentol During the Two Double-Blind Periods

Timeframe: Two double-blind periods: Week 0 to Week 4, Week 12 to Week 16

Trial details

NCT IDNCT04270682

SponsorMirum Pharmaceuticals, Inc.

Sponsor typeINDUSTRY

Study typeINTERVENTIONAL

Primary completion2023-07-13

Results submitted2024-07-12

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