Progressive Familial Intrahepatic CholestasisPhase 2RISENCT04729751
A Study to Evaluate the Safety and Tolerability of Maralixibat in Infant Participants With Cholestatic Liver Diseases Including Progressive Familial Intrahepatic Cholestasis (PFIC) and Alagille Syndrome (ALGS).
A Phase 2 study testing Maralixibat in people with Progressive Familial Intrahepatic Cholestasis and Alagille Syndrome, run by Mirum Pharmaceuticals, Inc. at 14 sites in 7 countries.
Trial summary
This study is designed to assess whether the investigational drug maralixibat, is safe and well tolerated in children <12 months of age with Alagille Syndrome [ALGS] or Progressive Familial Intrahepatic Cholestasis [PFIC]. Read more about this study
- Who is it for?
- Ages 0 to 364 days
- Conditions the study is for
- Progressive Familial Intrahepatic Cholestasis, Alagille Syndrome, Cholestatic Liver Disease
- What is being tested?
- Maralixibat
- Type of treatment
- Pill or oral medicine
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 27 participants
- Where
- 14 sitesin 7 countries
- Study dates
- 9 Sep 2021to 17 Dec 2024
- Phase
- Phase 2
- Are there results?
- Yes, posted in the registrySummary in the doctors' view
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 0 to 364 days
- All sexes
- No healthy volunteers
- Child
Who may be able to join
- Body weight of ≥2.5 kg
- <12 months of age at the baseline visit (ROW). >31 days and <12 months of age at the baseline visit (US).
- Gestational age ≥36 weeks at birth. For children born with gestational age between 32 and 36 weeks, a postmenstrual age of ≥36 weeks is required.
- Diagnosis of PFIC or ALGS
Who cannot join
- Predicted complete absence of bile salt excretion pump (BSEP) function
- History of surgical disruption of the enterohepatic circulation
- History of liver transplant or imminent need for liver transplant
- Decompensated cirrhosis
- 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 (e.g., inflammatory bowel disease), per investigator discretion
- Presence of other significant liver disease or any other conditions or abnormalities which, in the opinion of the investigator or medical monitor, may compromise the safety of the participant or interfere with the participant's participation in or completion of the study
Trial locations and contacts
14 sites in 7 countries.
14 sites in 7 countries
United States7 sites
Texas Children's Hospital
Houston, Texas, 77030
Children Hospital LA
Los Angeles, California, 90027
Ochsner Hospital for Children
New Orleans, Louisiana, 70121
Children's Hospital of Pittsburgh
Pittsburgh, Pennsylvania, 15224
University of California - San Francisco
San Francisco, California, 94158
Seattle Children's Hospital
Seattle, Washington, 98105
Medstar Georgetown University Hospital
Washington D.C., District of Columbia, 20007
Brazil1 site
Sociedade Beneficente de Senhoras - Hospital Sírio-Libanês
São Paulo, 01308-000
About this study
Official title: Open-Label, Phase 2 Study to Evaluate the Safety and Tolerability of Maralixibat in the Treatment of Infants With Cholestatic Liver Diseases Including Progressive Familial Intrahepatic Cholestasis and Alagille Syndrome
This study is designed to assess whether the investigational drug maralixibat, is safe and well tolerated in children <12 months of age with Alagille Syndrome [ALGS] or Progressive Familial Intrahepatic Cholestasis [PFIC].
Read the detailed description
This is an open label study where all participants will receive maralixibat treatment.
- Conditions
- Progressive Familial Intrahepatic Cholestasis, Alagille Syndrome, Cholestatic Liver Disease
- Being tested
- Maralixibat
- Keywords
- PFIC, ALGS, Maralixibat, Bile Duct Diseases, Liver Diseases, Biliary Tract Diseases, Pediatric
- Medical subject headings
- Cholestasis, progressive familial intrahepatic 1, Alagille Syndrome, Bile Duct Diseases, Liver Diseases, Biliary Tract Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
MaralixibatDrug
Also called Formerly LUM001 and SHP625
Maralixibat chloride provided in the form of an oral solution (i.e., 5, 10, 15, and 20 mg/mL)
- 400 μg/kg maralixibat chloride is equivalent to 380 µg/kg maralixibat free base
- 600 μg/kg maralixibat chloride is equivalent to 570 µg/kg maralixibat free base
| Study group | Role | What they receive |
|---|---|---|
| Maralixibat | Experimental | Participants will receive up to 600 μg/kg twice daily (PFIC) or up to 400 μg/kg once daily (ALGS) over 13 weeks in the core study and for the duration of the Long Term Extension (LTE) where applicable. Receives: Drug: Maralixibat |
What is being measured
The primary outcome is the main question the study is designed to answer.
Frequency of Treatment-emergent Adverse Events [TEAEs]
TEAEs = Treatment-emergent Adverse Events
Measured: From Baseline through to Week 13
Secondary outcomes (9)
Change in Fasting Serum Bile Acid (sBA) Levels
sBA = serum bile acid
Measured: From Baseline through to Week 13
To Evaluate the Effect on Liver Enzymes (ALT)
ALT= alanine aminotransferase.
Measured: From Baseline through to Week 13
Change From Baseline to Week 13 in Lipid-Soluble Vitamins (LSVs) - Vitamin E
Change from baseline to Week 13 in vitamin E.
Measured: From Baseline through to Week 13
Maximum Level of Maralixibat Concentration in Plasma From Baseline to Week 13 for ALGS
BID=twice daily; QD=once daily.
Systemic concentrations of maralixibat in plasma were determined at the following visits:
- Approximately 2.5 hours after the morning dose at Week 0/Day 1 of dosing
- Before dosing and ~2.5 hours after the morning dose at Week 6, Week 10, and Week 13
Stable dosing occurred at 400 μg/kg QD for ALGS or at the highest tolerated dose.
Note: The values added in section Measured Values are for maralixibat dose of 400 µg/kg QD.
Measured: At Baseline, Week 6, Week 10, Week 13 or Early Termination Visit
To Evaluate the Effect on Liver Enzymes (AST)
AST= aspartate aminotransferase
Measured: From Baseline through to Week 13.
To Evaluate the Effect on Bilirubin
Bilirubin
Measured: From Baseline through to Week 13
Change From Baseline to Week 13 in Lipid-Soluble Vitamins (LSVs) - Vitamin A
Change from baseline to Week 13 in vitamin A
Measured: From Baseline through to Week 13
Change From Baseline to Week 13 in Lipid-Soluble Vitamins (LSVs) - Vitamins D and K
Change from baseline to Week 13 in vitamins D and K.
Measured: From Baseline through to Week 13
Maximum Level of Maralixibat Concentration in Plasma From Baseline to Week 13 for PFIC
BID=twice daily; QD=once daily.
Systemic concentrations of maralixibat in plasma were determined at the following visits:
- Approximately 2.5 hours after the morning dose at Week 0/Day 1 of dosing
- Before dosing and ~2.5 hours after the morning dose at Week 6, Week 10, and Week 13
Stable dosing occurred at 300 μg/kg QD, 300 μg/kg BID and 600 μg/kg BID for PFIC or at the highest tolerated dose.
Note: The values added in section Measured Values are for maralixibat dose of 600 µg/kg BID.
Measured: At Baseline, Week 6, Week 10, Week 13 or Early Termination Visit
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Jan 2021
- Study start9 Sep 2021
- Primary completion17 Dec 2024
- Study completion17 Dec 2024
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Posted resultsParticipant flow, outcome measures and adverse events reported by the sponsor.
- Other trials for Progressive Familial Intrahepatic CholestasisStudies of the same condition, open and under way.
- More trials run by Mirum Pharmaceuticals, Inc.The sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 2
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Model description
- Single group with 2 cohorts - ≥ 6 participants each from ALGS and PFIC.
- Masking
- None (open label)
- Enrolment
- 27 participants (actual)
Sponsor and investigators
- Lead sponsor
- Mirum Pharmaceuticals, Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04729751
- Sponsor's protocol ID
- MRX-801
- Other IDs
- 2020-004628-40
- Acronym
- RISE
- Status last verified
- Jun 2026
- First submitted
- 25 Jan 2021
- Last updated
- 2 Jun 2026
- Results posted
- Yes, on ClinicalTrials.gov
- Data monitoring committee
- Yes
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 2 Jun 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Open-Label, Phase 2 Study to Evaluate the Safety and Tolerability of Maralixibat in the Treatment of Infants With Cholestatic Liver Diseases Including Progressive Familial Intrahepatic Cholestasis and Alagille Syndrome
- ClinicalTrials.gov ID
- NCT04729751
- Acronym / sponsor ID
- RISE / MRX-801
- Conditions
- Progressive Familial Intrahepatic Cholestasis, Alagille Syndrome, Cholestatic Liver Disease
- Keywords
- PFIC, ALGS, Maralixibat, Bile Duct Diseases, Liver Diseases, Biliary Tract Diseases, Pediatric
- Phase
- Phase 2
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 27 participants (actual)
- Lead sponsor
- Mirum Pharmaceuticals, Inc.Industry (pharma, biotech, devices)
- Study start
- 9 Sep 2021 (actual)
- Primary completion
- 17 Dec 2024 (actual)
- Study completion
- 17 Dec 2024 (actual)
- First posted
- 28 Jan 2021 (actual)
- Results
- Posted 2 Jun 2026
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
This study is designed to assess whether the investigational drug maralixibat, is safe and well tolerated in children <12 months of age with Alagille Syndrome [ALGS] or Progressive Familial Intrahepatic Cholestasis [PFIC].
Detailed description
This is an open label study where all participants will receive maralixibat treatment.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
- Model description
- Single group with 2 cohorts - ≥ 6 participants each from ALGS and PFIC.
| Arm | Type | Receives |
|---|---|---|
| Maralixibat | Experimental | Drug: MaralixibatParticipants will receive up to 600 μg/kg twice daily (PFIC) or up to 400 μg/kg once daily (ALGS) over 13 weeks in the core study and for the duration of the Long Term Extension (LTE) where applicable. |
Who may qualify
- Ages
- 0 to 364 days
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
Key inclusion criteria (4 listed)
- Body weight of ≥2.5 kg
- <12 months of age at the baseline visit (ROW). >31 days and <12 months of age at the baseline visit (US).
- Gestational age ≥36 weeks at birth. For children born with gestational age between 32 and 36 weeks, a postmenstrual age of ≥36 weeks is required.
- Diagnosis of PFIC or ALGS
Key exclusion criteria (6 listed)
- Predicted complete absence of bile salt excretion pump (BSEP) function
- History of surgical disruption of the enterohepatic circulation
- History of liver transplant or imminent need for liver transplant
- Decompensated cirrhosis
- 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 (e.g., inflammatory bowel disease), per investigator discretion
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| MaralixibatAlso: Formerly LUM001 and SHP625Maralixibat chloride provided in the form of an oral solution (i.e., 5, 10, 15, and 20 mg/mL) * 400 μg/kg maralixibat chloride is equivalent to 380 µg/kg maralixibat free base * 600 μg/kg maralixibat chloride is equivalent to 570 µg/kg maralixibat free base | Drug | Maralixibat |
Primary outcome
Frequency of Treatment-emergent Adverse Events [TEAEs]
Time frame: From Baseline through to Week 13
TEAEs = Treatment-emergent Adverse Events
9 secondary outcomes
Change in Fasting Serum Bile Acid (sBA) Levels
Time frame: From Baseline through to Week 13
To Evaluate the Effect on Liver Enzymes (ALT)
Time frame: From Baseline through to Week 13
Change From Baseline to Week 13 in Lipid-Soluble Vitamins (LSVs) - Vitamin E
Time frame: From Baseline through to Week 13
Maximum Level of Maralixibat Concentration in Plasma From Baseline to Week 13 for ALGS
Time frame: At Baseline, Week 6, Week 10, Week 13 or Early Termination Visit
To Evaluate the Effect on Liver Enzymes (AST)
Time frame: From Baseline through to Week 13.
To Evaluate the Effect on Bilirubin
Time frame: From Baseline through to Week 13
Change From Baseline to Week 13 in Lipid-Soluble Vitamins (LSVs) - Vitamin A
Time frame: From Baseline through to Week 13
Change From Baseline to Week 13 in Lipid-Soluble Vitamins (LSVs) - Vitamins D and K
Time frame: From Baseline through to Week 13
Maximum Level of Maralixibat Concentration in Plasma From Baseline to Week 13 for PFIC
Time frame: At Baseline, Week 6, Week 10, Week 13 or Early Termination Visit
Results and safety
Loading the posted results from ClinicalTrials.gov…
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 2 Jun 2026.
- Posted resultsParticipant flow, baseline, all outcome measures and adverse events.
- Genetics Home Reference - PFICLink provided by the sponsor.
- Mirum Pharmaceuticals homepageLink provided by the sponsor.
- Genetics Home Reference - ALGSLink provided by the sponsor.
- US FDA ResourcesLink provided by the sponsor.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
14 sites in 7 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 2 study testing Maralixibat in people with Progressive Familial Intrahepatic Cholestasis and Alagille Syndrome, run by Mirum Pharmaceuticals, Inc. at 14 sites in 7 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 6 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 2 Jun 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 14 sites in United States, France, Belgium, Brazil, Mexico and 2 more countries. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this phase mean?
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
Yes. Results are posted in the registry (first posted 2 Jun 2026). A summary is in the For doctors view, and the full results are on ClinicalTrials.gov.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Frequency of Treatment-emergent Adverse Events [TEAEs] (time frame: From Baseline through to Week 13). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 2 Jun 2026.