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Safety and Efficacy Study of LUM001 (Maralixibat) With a Drug Withdrawal Period in Participants With Alagille Syndrome (ALGS)

Phase 2
Completed
Conditions
Alagille Syndrome
Interventions
Drug: LUM001 (Maralixibat)
Drug: Placebo
Registration Number
NCT02160782
Lead Sponsor
Mirum Pharmaceuticals, Inc.
Brief Summary

This is a long-term, open-label study with a double-blind, placebo-controlled, randomized drug withdrawal period in children with Alagille Syndrome (ALGS) designed to evaluate the safety and efficacy of LUM001 (Also known as maralixibat or MRX).

Detailed Description

The study is divided into 6 parts: a 6-week open-label, dose escalation period, a 12-week open-label stable dosing period, a 4-week randomized, double-blind, placebo-controlled drug withdrawal period, a 26-week long-term stable dosing period, and an a 52-week optional follow-up treatment period, and a long-term optional follow-up treatment period for eligible participants who choose to stay on treatment with LUM001.

Recruitment & Eligibility

Status
COMPLETED
Sex
All
Target Recruitment
31
Inclusion Criteria
  • Male or female between the ages of 12 months and 18 years inclusive.

  • Diagnosis of ALGS.

  • Evidence of cholestasis (one or more of the following):

    1. Total serum bile acid > 3x ULN for age.
    2. Conjugated bilirubin > 1 mg/dL.
    3. Fat soluble vitamin deficiency otherwise unexplainable.
    4. GGT > 3x ULN for age.
    5. Intractable pruritus explainable only by liver disease.
  • Females of childbearing potential must have a negative serum pregnancy test during Screening.

  • Males and females of child-bearing potential who are sexually active, or are not currently sexually active during the study, but become sexually active during the period of the study and 30 days following the last dose of study drug, must agree and use acceptable contraception during the trial.

  • Participant is expected to have a consistent caregiver(s) for the duration of the study.

  • Informed consent and assent (per IRB/IEC) as appropriate.

  • Access to phone for scheduled calls from study site.

  • Caregivers (and age-appropriate participants) must be willing and able to use an eDiary device during the study.

  • Caregivers (and age-appropriate participants) must digitally accept the licensing agreement in the eDiary software.

  • Caregivers (and age-appropriate participants) must complete at least 10 eDiary reports (morning or evening) during each of two consecutive weeks of the screening period (maximum possible reports = 14 per week).

  • Average daily score >2 on the Itch Reported Outcome (ItchRO™) questionnaire (maximum possible daily score of 4) for two consecutive weeks in the screening period, prior to dosing. A daily score is the higher of the scores for the morning and evening ItchRO. The average daily score is the sum of all daily scores divided by the number of days the ItchRO was completed.

Inclusion Criteria for participants to be eligible for the 52-week optional follow-up treatment period:

  • Completed the protocol through the Week 48 visit with no safety concerns. Participants who were discontinued due to safety reasons can be rechallenged if blood tests are back to relatively normal values for this patient population and participant does not meet any of the protocol's stopping rules. The decision will be made by the investigator in consultation with the sponsor medical monitor.
  • Participants who have undergone a surgical disruption of the enterohepatic circulation will not be eligible to enter into the follow up treatment period.
  • Participants who were discontinued for other reasons will be considered for the 52-week optional follow-up treatment period on an individual basis. The decision will be made by the investigator in consultation with the sponsor medical monitor.

Inclusion Criteria for participants with LUM001dosing interruption <7 days, or >=7 days:

  • The Participant has either: completed the protocol through the Week 48 visit with no major safety concerns OR discontinued due to safety reasons judged unrelated to the study drug, and laboratory results have returned to levels acceptable for this patient population or individual and participant does not meet any of the protocol's stopping rules at the time of entry into the follow-up period. The decision will be made by the investigator in consultation with the sponsor medical monitor. [Participants who were discontinued for other reasons will be considered on an individual basis.]
  • Females of childbearing potential must have a negative urine or serum pregnancy test (beta- human chorionic gonadotropin [β-hCG]) at the time of entry into the long-term optional follow-up treatment period.
  • Males and females of child-bearing potential who are sexually active, or are not currently sexually active during the study, but become sexually active during the period of the study and 30 days following the last dose of study drug, must agree and use acceptable contraception during the trial.
  • Informed consent and assent (per IRB/EC) as appropriate.
  • Access to phone for scheduled calls from study site.
  • Caregivers (and age-appropriate participants) must be willing and able to use an eDiary device during the study.
Exclusion Criteria
  • Chronic diarrhea requiring ongoing intravenous fluid or nutritional intervention.
  • Surgical interruption of the enterohepatic circulation.
  • Previous liver transplant
  • Decompensated cirrhosis (ALT >15 x ULN, INR >1.5 [unresponsive to vitamin K therapy], albumin <3.0 g/dL, history or presence of clinically significant ascites, variceal hemorrhage, and/or encephalopathy).
  • History or presence of other concomitant liver disease.
  • History or presence of any other disease or condition known to interfere with the absorption, distribution, metabolism or excretion of drugs, including bile salt metabolism in the intestine (eg, inflammatory bowel disease).
  • History or presence of gallstones or kidney stones.
  • Known diagnosis of human immunodeficiency virus (HIV) infection.
  • Cancers, except for in situ carcinoma, or cancers treated at least 5 years prior to Screening with no evidence of recurrence.
  • Recent medical history or current status that suggests that the participant may be unable to complete the study.
  • Any female who is pregnant or lactating or who is planning to become pregnant during the study period.
  • Known history of alcohol or substance abuse.
  • Administration of bile acid or lipid binding resins within 28 days prior to screening and throughout the trial.
  • Known hypersensitivity to LUM001 or any of its components.
  • Receipt of investigational drug, biologic, or medical device within 28 days prior to screening, or 5 half-lives of the study agent, whichever is longer.
  • History of non-adherence to medical regimens, unreliability, mental instability or incompetence that could compromise the validity of informed consent or lead to nonadherence with the study protocol based upon investigator judgment.
  • Any other conditions or abnormalities which, in the opinion of the investigator or sponsor medical monitor, may compromise the safety of the participant, or interfere with the participant participating in or completing the study.
  • Participants weighing over 50 kg at screening.

Exclusion Criteria for participants with LUM001 dosing interruption >=7 days:

  • All exclusion criteria mentioned above apply upon entry into the long-term optional follow-up period, with the exception of participants weighing over 50 kg at screening.

Study & Design

Study Type
INTERVENTIONAL
Study Design
PARALLEL
Arm && Interventions
GroupInterventionDescription
LUM001 (Maralixibat)LUM001 (Maralixibat)LUM001, also known as Maralixibat (MRX) will be administered orally once a day (QD) up to 400 microgram per kilogram per day (mcg/kg/day) up to Week 52, followed by an increase in dose orally twice a day (BID) during long-term follow-up based on efficacy (serum bile acid \[sBA\] level and ItchRO\[Obs\] score) and safety assessment. Note: 400 mcg/kg maralixibat chloride is equivalent to 380 mcg/kg free maralixibat.
PlaceboPlaceboPlacebo will be administered orally once a day during randomized withdrawal period (Week 19 to Week 22)
Primary Outcome Measures
NameTimeMethod
Change From Week 18 to Week 22 in Fasting sBA Levels in Participants Who Had a Reduction in sBA ≥50% From Baseline to Week 12 or Week 18Week 18 to Week 22

The primary efficacy endpoint of this study was the mean change from Week 18 to Week 22 (the RWD period) of fasting sBA levels in participants who had a reduction in sBA ≥50% from baseline to Week 12 or Week 18 (Modified Intent-to-Treat \[MITT\] Population). Five participants in the MRX group and 10 participants in the placebo group met the prespecified sBA reduction criteria.

Secondary Outcome Measures
NameTimeMethod
Change From Week 18 to Week 22 in Alkaline PhosphataseWeek 18 to Week 22

This secondary efficacy endpoint is the mean change from Week 18 to Week 22 in ALP

Change From Baseline to Week 18 in Pruritus as Measured by ItchRO (Obs)Baseline to Week 18

This secondary efficacy endpoint is the change from baseline to Week 18 in pruritus as measured by ItchRO(Obs) weekly average morning score. ItchRO scores range from 0 to 4; the higher score indicates increasing itch severity (0 = none; 4 = very severe).

Change From Week 18 to Week 22 in Pruritus as Measured by ItchRO(Obs)Week 18 to Week 22

This secondary efficacy endpoint is the change from Week 18 to Week 22 in pruritus as measured by ItchRO(Obs) weekly average morning score. ItchRO scores range from 0 to 4; the higher score indicates increasing itch severity (0 = none; 4 = very severe).

Change From Baseline to Week 18 in Fasting sBA LevelsBaseline to Week 18

This secondary efficacy endpoint is the mean change from baseline to Week 18 in fasting sBA levels

Change From Baseline to Week 18 in Total BilirubinBaseline to Week 18

This secondary efficacy endpoint is the mean change from baseline to Week 18 in total bilirubin

Change From Baseline to Week 18 in Alkaline PhosphataseBaseline to Week 18

This secondary efficacy endpoint is the mean change from baseline to Week 18 in ALP

Change From Baseline to Week 18 in Alanine AminotransferaseBaseline to Week 18

This secondary efficacy endpoint is the mean change from baseline to Week 18 in ALT

Change From Week 18 to Week 22 in Alanine AminotransferaseWeek 18 to Week 22

This secondary efficacy endpoint is the mean change from Week 18 to Week 22 in alanine aminotransferase (ALT)

Change From Baseline to Week 18 in Pruritus as Measured by ItchRO (Pt)Baseline to Week 18

This secondary efficacy endpoint is the change from baseline to Week 18 in pruritus as measured by ItchRO(Pt) weekly average morning score

Change From Week 18 to Week 22 in Pruritus as Measured by ItchRO(Pt)Week 18 to Week 22

This secondary efficacy endpoint is the change from Week 18 to Week 22 in pruritus as measured by ItchRO(Pt) weekly average morning score. ItchRO scores range from 0 to 4; the higher score indicates increasing itch severity (0 = none; 4 = very severe).

Change From Week 18 to Week 22 in Total BilirubinWeek 18 to Week 22

This secondary efficacy endpoint is the mean change from Week 18 to Week 22 in total bilirubin

Change From Baseline to Week 18 in Direct BilirubinBaseline to Week 18

This secondary efficacy endpoint is the mean change from baseline to Week 18 in direct bilirubin

Change From Week 18 to Week 22 in Direct BilirubinWeek 18 to Week 22

This secondary efficacy endpoint is the mean change from Week 18 to Week 22 in direct bilirubin

Trial Locations

Locations (9)

Hopital Necker-Enfants Malades

🇫🇷

Paris, France

Paediatric Liver Center, Kings College Hospital

🇬🇧

London, United Kingdom

Children's Hospital Westmead

🇦🇺

Westmead, New South Wales, Australia

Cliniques Universitaires Saint-Luc

🇧🇪

Brussels, Belgium

The Royal Children's Hospital Melbourne

🇦🇺

Parkville, Victoria, Australia

The Children's Memorial Health Institute

🇵🇱

Warsaw, Poland

Hopital Femme Mere Enfant De Lyon

🇫🇷

Bron, France

Hopital Kremlin Bicetre

🇫🇷

Paris, France

Hospital Universitario La Paz- Hospital Materno Infantil

🇪🇸

Madrid, Spain

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