Phase 3
N=18
Study to Evaluate Patients With Cerebrotendinous Xanthomatosis (RESTORE)
CTX
Bottom Line
View on ClinicalTrials.gov: NCT04270682 ↗Enrolled (actual)
18
Serious AEs
3.2%
Results posted
Oct 2024
Primary outcome: Primary: Change From Baseline in Urine 23S-Pentol During the Two Double-Blind Periods — 7.18; 6.96; 7.45; 10.34 natural log of ng/mL — p=<0.0001
Study Design & Population
- Study type
- Interventional
- Phase
- Phase 3
- Interventions
- Blinded CDCA 250 mg TID (Drug); Placebo (Drug); Open-Label CDCA 250 mg TID (Drug); Rescue Medication CDCA 250 mg TID (Drug); CDCA Weight-Based Dose TID (Drug)
- Age
- Pediatric, Adult, Older Adult · 0+ yrs
- Sex
- All
- Sponsor
- Mirum Pharmaceuticals, Inc.
- Primary completion
- Jul 2023
Outcome Measures
| Outcome | Result | p-value |
|---|---|---|
| PRIMARY Change From Baseline in Urine 23S-Pentol During the Two Double-Blind Periods |
7.18; 6.96; 7.45; 10.34; 0.20; 3.38 | <0.0001 sig |
| SECONDARY Change From Baseline Plasma Cholestanol During the Two Double-Blind Periods |
1.13; 1.14; 1.10; 1.88; -0.12; 0.75 | 0.0083 sig |
| SECONDARY Change From Baseline Plasma 7αC4 During the Two Double-Blind Periods |
4.02; 4.00; 3.97; 7.60; -0.08; 3.60 | <0.0001 sig |
| SECONDARY Proportion of Participants Who Received Rescue Treatment During Two Double-Blind Periods |
0; 2; 1; 6; 1; 8 | 0.0006 sig |
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)
Eligibility Criteria
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.
- Positive at screening for the human immunodeficiency virus (HIV) or markers indicating acute or chronic hepatitis B infection or hepatitis C infection.
Data sourced from ClinicalTrials.gov (NCT04270682). Outcome figures and adverse-event rates are extracted automatically from the registry's posted results and are provided for clinician reference, not as a substitute for the primary publication.