Clinical trial • Phase IV • Rare Disease|Cardiology|Gastroenterology

Maralixibat for Progressive familial intrahepatic cholestasis|Alagille syndrome

Phase IV trial of Maralixibat for Progressive familial intrahepatic cholestasis|Alagille syndrome. open-label, none/not specified-controlled.

Overview

Trial Therapeutic Area
Rare Disease|Cardiology|Gastroenterology
Trial Disease
Progressive familial intrahepatic cholestasis|Alagille syndrome
Trial Stage
Phase IV
Drug Modality
Small molecule
Paediatric Trial
Yes
Orphan Drug
Yes

Key dates

Initial CTIS Submission Date
20-12-2024
First CTIS Authorization Date
21-04-2025

Trial design

open-label, none/not specified-controlled Phase IV trial across 14 sites in France, Italy, Spain and others.

Open Label
Yes
Comparator
None/Not specified
Single Multiple Or Escalation Dose Combined
Yes
Target Sample Size
223
Trial Duration For Participant
3652

Eligibility

Recruits 223 paediatric patients.

Vulnerable Population
Vulnerable populations are included (isVulnerablePopulationSelected = true). The study includes children (from ≥2 months for ALGS and ≥3 months for PFIC). Consent approach requires informed consent and assent as applicable (principal inclusion criterion: "Understand and execute an Informed consent and assent (as applicable)"). Age-specific consent/assent documents are provided (parent/guardian ICF and assent forms for age groups such as 3-5, 6-11, 12-17, and parent/guardian forms), with materials available in multiple languages as per submitted ICF documents.

Inclusion criteria

  • {"criterion_text":"- Understand and execute an Informed consent and assent (as applicable)\n- A clinically and/or genetically confirmed ALGS diagnosis with pruritus secondary to chronic cholestasis (Saleh et al. 2016) or a clinically and/or genetically confirmed PFIC diagnosis (Hassan and Hertel 2022)\n- For the ALGS primary cohort: Initiation of Livmarli at the time of study entry\n- For the ALGS supplemental cohort: Actively using Livmarli prior to study entry\n- For participants with ALGS, ≥2 months of age at Day 1\n- For participants with PFIC, ≥3 months of age at Day 1\n- For participants with PFIC: Prescribed Livmarli at the time of study entry or prior to study entry"}

Exclusion criteria

  • {"criterion_text":"- History of LT\n- Any Livmarli contraindications (as per SmPC)\n- Any condition or abnormality that, in the opinion of the investigator, may interfere with the participation in or completion of the study\n- Received an investigational drug within 30 days before the first dose of Livmarli (Participation in previous maralixibat studies or expanded access programs is acceptable)\n- Baseline data before start of treatment of Livmarli are unavailable for key safety (LFTs, FSV laboratory results) and key efficacy (sBA, pruritus) parameters\n- Received another IBAT inhibitor within 7 days before the first dose of Livmarli"}

Endpoints

Primary endpoints

  • {"endpoint_text":"- Safety • AEs • The number and proportion of participants who experience an AE • Change in liver function tests from Baseline • Change in FSV levels and INR (as an estimate of vitamin K) from Baseline • For participants with PFIC PG toxicity will be monitored","definition_or_measurement_approach":"Safety endpoints include number and proportion of participants with adverse events (AEs); change from Baseline in liver function tests; change from Baseline in fat-soluble vitamin (FSV) levels and INR as an estimate of vitamin K. For PFIC participants, propylene glycol (PG) toxicity will be monitored."}
  • {"endpoint_text":"- Efficacy • Change in pruritus severity from Baseline as measured by Clinician Scratch Scale (CSS) score • Change in serum bile acids (sBA) levels from Baseline • Frequency in the use of concomitant medications for the treatment of underlying liver disease, treatment of pruritus, or treatment of cholestasis • Frequency and timing of long-term clinical outcomes","definition_or_measurement_approach":"Pruritus severity measured by Clinician Scratch Scale (CSS) score (change from Baseline); change from Baseline in serum bile acids (sBA); frequency of concomitant medication use for liver disease/pruritus/cholestasis; frequency and timing of long-term clinical outcomes (e.g., SBD, LT, portal hypertension, complications)."}
  • {"endpoint_text":"- Tolerability: Tolerability of starting dose and dose escalation will be assessed by summarizing AEs and/or any other safety information (as available) on starting dose and during dose escalation phase. The cases of dose reduction, treatment interruption, and treatment discontinuation due to AEs/poor tolerability will be also summarized over the whole treatment period.","definition_or_measurement_approach":"Tolerability assessed by summaries of AEs and other safety information at starting dose and during dose escalation; summaries of cases with dose reduction, treatment interruption, and treatment discontinuation due to AEs/poor tolerability over the treatment period."}
  • {"endpoint_text":"- Growth: Growth, including height/length and weight, will be assessed as an endpoint. The endpoint will be assessed as change from Baseline in height/length and weight (absolute values and z-scores).","definition_or_measurement_approach":"Growth assessed by change from Baseline in height/length and weight (absolute values and z-scores)."}
  • {"endpoint_text":"- Overdose, Dosing Errors, Misuse, and Abuse Frequencies of overdose and dosing errors/medication errors will be calculated.","definition_or_measurement_approach":"Frequencies of overdose, dosing errors, medication errors, misuse, and abuse will be calculated and summarized."}

Recruitment

Digital Remote Recruitment
Yes
Planned Sample Size
223
Recruitment Window Months
120
Consent Approach
Informed consent is required from participants or their parent/legal guardian as applicable; assent is required for minors where applicable (inclusion criterion: 'Understand and execute an Informed consent and assent (as applicable)'). Age-specific consent/assent documents are provided (parent/guardian ICF and assent forms for age groups such as 3-5, 6-11, 12-17, and versions for infants/toddlers). Consent and patient-facing materials are available in multiple languages (English, French, German, Italian, Dutch, Spanish) as indicated by the multiple country-specific ICF and patient-facing documents.

Methods

  • Site-based recruitment through participating hospitals/clinics listed in each country (hospital sites are specified in the Part II submissions: e.g., pediatric hepatology/gastroenterology departments in Spain, France, Italy, Belgium, Germany, Netherlands).
  • Digital recruitment/materials via Scout Clinical platform and materials: 'Scout Brochure', 'Reloadable ScoutPass Mailer', 'Reloadable ScoutPass FAQs' (documents present in submission indicate use of Scout-related digital materials and mailer).
  • Email communication to potential participants (documents titled 'L2_SC_Email communication' and similar country-specific email communication files).
  • Participant information materials and study brochures in multiple languages (documents titled 'Scout Brochure' and multiple PedsQL patient-facing questionnaires and ICFs in EN/FR/DE/IT/NL/ES).
  • Participant expense reimbursement management (documents and third-party role: Scout Clinical - 'Expense reimbursment management for study participants').

Geography

Total Number Of Sites
14
Total Number Of Participants
223

France

Earliest CTIS Part Ii Submission Date
21-03-2025
Latest Decision Or Authorization Date
22-04-2025
Processing Time Days
32
Number Of Sites
3
Number Of Participants
55

Sites

Site Name
Assistance Publique Hopitaux De Paris
Department Name
Pediatric Hepatology
Principal Investigator Name
Emmanuel Gonzales
Principal Investigator Email
Emmanuel.gonzales@aphp.fr
Contact Person Name
Emmanuel Gonzales
Contact Person Email
Emmanuel.gonzales@aphp.fr
Site Name
Hospices Civils De Lyon
Department Name
Pediatric Gastroenterology, Hepatology and Nutrition
Principal Investigator Name
Mathias Ruiz
Principal Investigator Email
mathias.ruiz@chu-lyon.fr
Contact Person Name
Mathias Ruiz
Contact Person Email
mathias.ruiz@chu-lyon.fr
Site Name
Hopital Des Enfants
Department Name
Gastro-entérologie, hépatologie, nutrition et maladies héréditaires du métabolisme
Principal Investigator Name
Nolwen Laborde
Principal Investigator Email
laborde.n@chu-toulouse.fr
Contact Person Name
Nolwen Laborde
Contact Person Email
laborde.n@chu-toulouse.fr

Italy

Earliest CTIS Part Ii Submission Date
17-01-2025
Latest Decision Or Authorization Date
22-04-2025
Processing Time Days
95
Number Of Sites
2
Number Of Participants
44

Sites

Site Name
ISMETT (Istituto Mediterraneo per i Trapianti e Terapie ad Alta Specializzazione)
Department Name
Pediatrics Unit of Hepatology and Transplantation
Principal Investigator Name
Giusy Ranucci
Principal Investigator Email
granucci@ismett.edu
Contact Person Name
Giusy Ranucci
Contact Person Email
granucci@ismett.edu
Site Name
ASST Ospedale Papa Giovanni XXIII
Department Name
Pediatria
Principal Investigator Name
Lorenzo D' Antiga
Principal Investigator Email
ldantiga@asst-pg23.it
Contact Person Name
Lorenzo D' Antiga
Contact Person Email
ldantiga@asst-pg23.it

Spain

Earliest CTIS Part Ii Submission Date
21-03-2025
Latest Decision Or Authorization Date
21-04-2025
Processing Time Days
31
Number Of Sites
2
Number Of Participants
38

Sites

Site Name
Hospital Universitario La Paz
Department Name
Hepatology
Principal Investigator Name
Esteban Frauca
Principal Investigator Email
esteban.frauca@salud.madrid.org
Contact Person Name
Esteban Frauca
Site Name
Hospital Universitari Vall D Hebron
Department Name
Hepatology
Principal Investigator Name
Jesus Quintero
Principal Investigator Email
jesus.quintero@vallhebron.cat
Contact Person Name
Jesus Quintero
Contact Person Email
jesus.quintero@vallhebron.cat

Belgium

Earliest CTIS Part Ii Submission Date
05-11-2025
Latest Decision Or Authorization Date
18-11-2025
Processing Time Days
13
Number Of Sites
2
Number Of Participants
34

Sites

Site Name
Cliniques Universitaires Saint-Luc
Department Name
Pediatric Department
Principal Investigator Name
Xavier Stephenne
Principal Investigator Email
xavier.stephenne@saintluc.uclouvain.be
Contact Person Name
Xavier Stephenne
Site Name
Universitair Ziekenhuis Gent
Department Name
Pediatric Gastroenterology Department
Principal Investigator Name
Ruth De Bruyne
Principal Investigator Email
ruth.debruyne@uzgent.be
Contact Person Name
Ruth De Bruyne
Contact Person Email
ruth.debruyne@uzgent.be

Germany

Earliest CTIS Part Ii Submission Date
07-11-2025
Latest Decision Or Authorization Date
15-12-2025
Processing Time Days
38
Number Of Sites
4
Number Of Participants
36

Sites

Site Name
Charite Universitaetsmedizin Berlin KöR
Department Name
Department of Pediatric Gastroenterology, Nephrology and Metabolic Diseases
Principal Investigator Name
Philip Bufler
Principal Investigator Email
philip.bufler@charite.de
Contact Person Name
Philip Bufler
Contact Person Email
philip.bufler@charite.de
Site Name
University Medical Center Hamburg-Eppendorf
Department Name
Klinik und Poliklinik für Kinder-und Jungenmedizin
Principal Investigator Name
Sebastian Schulz-Jürgensen
Principal Investigator Email
s.schulz-juergensen@uke.de
Contact Person Name
Sebastian Schulz-Jürgensen
Contact Person Email
s.schulz-juergensen@uke.de
Site Name
Universitaetsklinikum Regensburg AöR
Department Name
Klinik und Poliklinik fur Kinder- und Jugendmedizin
Principal Investigator Name
Thomas Kehler
Principal Investigator Email
thomas.kehler@klinik.uni-regensburg.de
Contact Person Name
Thomas Kehler
Site Name
Universitaetsklinikum Essen AöR
Department Name
Kinderklinik II Gastroenterologie
Principal Investigator Name
Elke Lainka
Principal Investigator Email
elke.lainka@uk-essen.de
Contact Person Name
Elke Lainka
Contact Person Email
elke.lainka@uk-essen.de

Netherlands

Earliest CTIS Part Ii Submission Date
07-11-2025
Latest Decision Or Authorization Date
15-12-2025
Processing Time Days
38
Number Of Sites
1
Number Of Participants
16

Sites

Site Name
Universitair Medisch Centrum Groningen
Department Name
Pediatrics
Principal Investigator Name
Hendrik Jan Verkade
Principal Investigator Email
h.j.verkade@umcg.nl
Contact Person Name
Hendrik Jan Verkade
Contact Person Email
h.j.verkade@umcg.nl

Sponsor

Primary sponsor

Full Name
Mirum Pharmaceuticals Inc.
Organisation Type
Pharmaceutical company
Country Of Registered Address
United States

Contract research organisations

Name
Ergomed Clinical Research Limited
Responsibilities
sponsorDuties codes: ["1","11","12","13","2","5"]
Name
Primevigilance USA Inc.
Responsibilities
sponsorDuties codes: ["8"] (pharmacovigilance)

Third parties

  • {"country":"United States","full_name":"Edetek Inc.","duties_or_roles":"sponsorDuties codes: [\"10\"]","organisation_type":"Pharmaceutical company"}
  • {"country":"United States","full_name":"Primevigilance USA Inc.","duties_or_roles":"sponsorDuties codes: [\"8\"]","organisation_type":"Pharmaceutical company"}
  • {"country":"United Kingdom","full_name":"Ergomed Clinical Research Limited","duties_or_roles":"sponsorDuties codes: [\"1\",\"11\",\"12\",\"13\",\"2\",\"5\"]","organisation_type":"Pharmaceutical company"}
  • {"country":"United States","full_name":"Sitero LLC","duties_or_roles":"sponsorDuties: [\"15\"] (Other - eCRF configuration, EDC hosting Data management E-data capture)","organisation_type":"Pharmaceutical company"}
  • {"country":"United States","full_name":"Scout Clinical","duties_or_roles":"sponsorDuties: [\"15\"] (Expense reimbursment management for study participants)","organisation_type":"Hospital/Clinic/Other health care facility"}

Investigational products

Investigational Product Name
Livmarli 9.5 mg/mL oral solution
Active Substance
Maralixibat
Modality
Small molecule
Routes Of Administration
Oral
Route
oral
Authorisation Status
Authorised (EU marketing authorisation EU/1/22/1704/001)
Orphan Designation
Yes
Maximum Dose
57 mg per day

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