Study to Evaluate Patients With Cerebrotendinous Xanthomatosis (RESTORE)

Mirum Pharmaceuticals

Status and phase: Completed; Phase 3

Conditions: CTX

Treatments: Drug: CDCA Weight-Based Dose TID; Drug: Placebo; Drug: Rescue Medication CDCA 250 mg TID; Drug: Open-Label CDCA 250 mg TID; Drug: Blinded CDCA 250 mg TID

Study type: Interventional

Funder types: Industry

Identifiers

NCT04270682

Cheno-CTX-301

Details and patient eligibility

About

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)

Enrollment: 19 patients

Sex: All

Ages: 1+ month old

Volunteers: No Healthy Volunteers

Inclusion criteria

1. Male or female at least 1 month or older at screening.
2. Clinical diagnosis of CTX with biochemical confirmation.
3. 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.
4. 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

1. Genetic testing does not confirm CTX.
2. Malabsorption disorder or confounding inflammatory gastrointestinal condition (for example, irritable bowel syndrome).
3. Documented history of heart failure.
4. Treated with medications which impact bile acid absorption such as bile acid sequestering agents (eg, cholestyramine, colestipol, aluminum-based antacids.
5. Treated with cholic acid medication.
6. Female patient who is pregnant, plans to become pregnant during the course of the study, or is breastfeeding.
7. Positive at screening for the human immunodeficiency virus (HIV) or markers indicating acute or chronic hepatitis B infection or hepatitis C infection.

Trial design

Primary purpose: Treatment

Allocation: Randomized

Interventional model: Crossover Assignment

Masking: Quadruple Blind

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19 participants in 2 patient groups

Adult Cohort

Experimental group

Description:

Patients in the adult cohort will participate in a randomized, double-blind, placebo-controlled, 2 period × 2-treatment crossover study with rescue medication and open-label run-in to assess the efficacy and safety of CDCA.

Treatment:

Drug: Open-Label CDCA 250 mg TID

Drug: Blinded CDCA 250 mg TID

Drug: Rescue Medication CDCA 250 mg TID

Drug: Placebo

Pediatric Cohort

Experimental group

Description:

Pediatric cohort patients (≥1 month and \<16 years) will participate in a 24-week, open-label cohort with an 8-week titration period and a 16-week treatment period at the tolerated dose.

Treatment:

Drug: CDCA Weight-Based Dose TID