Bile Acid Synthesis DisordersNCT03115086
The REPLACE Registry for Cholbam® (Cholic Acid)
An observational study of Bile Acid Synthesis Disorders, run by Mirum Pharmaceuticals, Inc. at 24 sites in United States.
Trial summary
This is a prospective, observational, non-interventional patient registry study designed to document product safety and effectiveness outcomes for 10 years in patients treated with Cholbam, including those who have been using Cholbam for at least 30 days (existing users) and those who are first-time initiators of… Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Bile Acid Synthesis Disorders
- What is being tested?
- Cholbam
- How many people
- 55 participants
- Where
- 24 sitesUnited States
- Study dates
- 10 Jul 2017to Jul 2039
- How long will I take part?
- 10 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: All patients with a diagnosis for which Cholbam is indicated are eligible for inclusion in the Registry.
Who may be able to join
- Male and female patients, of any age.
- The patient and/or the patient's parent/legal guardian is willing and able to provide signed informed consent, and the patient, if less than 18 years of age, is willing to provide assent as appropriate and in accordance with local regulatory, IRB, and EC requirements.
- The patient has a diagnosis for which Cholbam is indicated.
- The patient is or will be treated with Cholbam at the time of signing the informed consent form (ICF) (enrollment).
Who cannot join
- 1. Patients who, by judgement of the Investigator, will not be able to comply with the requirements of the protocol will be excluded
Trial locations and contacts
24 sites in 1 country.
24 sites in 1 country
United States24 sites
Children's Healthcare of Atlanta
Atlanta, Georgia, 30329
Children's Center For Digestive Health
Atlanta, Georgia, 30342
University of Alabama Birmingham
Birmingham, Alabama, 35233
UNC Chapel Hill
Chapel Hill, North Carolina, 27599
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio, 45229
Office of Dr. Esperanza Font-Montgomery MD
Columbia, Missouri, 65201
Kidz Pediatric Multispecialty Group
Hollywood, Florida, 33021
Nemours duPont Pediatrics Specialty Clinic
Jacksonville, Florida, 32207
Nicklaus Children's Hospital
Miami, Florida, 33155
University of Minnesota
Minneapolis, Minnesota, 55454
Monroe-Carell Jr. Children's Hospital at Vanderbilt
Nashville, Tennessee, 37232
Ochsner Hospital for Children
New Orleans, Louisiana, 70121
NYU Langone - NYU Grossman School of Medicine
New York, New York, 10016
Icahn School Of Medicine at Mount Sinai
New York, New York, 10029
Montefiore Medical Center
New York, New York, 10032
University of Oklahoma
Oklahoma City, Oklahoma, 73104
Stanford School of Medicine
Palo Alto, California, 94305
The Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, 19104
Mayo Clinic
Rochester, Minnesota, 55902
Golisano Children's Hospital, URMC
Rochester, New York, 14642
Primary Children's Hospital
Salt Lake City, Utah, 84113
UC San Francisco
San Francisco, California, 94158
Washington University at St Louis
St Louis, Missouri, 63110
The Community Health Clinic
Topeka, Indiana, 46571
About this study
Official title: A Prospective, Observational, Non-Interventional, Post-Marketing, Patient Registry to Collect Data on Routine Clinical Care in Patients Treated With Cholbam® (Cholic Acid)
This is a prospective, observational, non-interventional patient registry study designed to document product safety and effectiveness outcomes for 10 years in patients treated with Cholbam, including those who have been using Cholbam for at least 30 days (existing users) and those who are first-time initiators of Cholbam.
Read the detailed description
No experimental intervention is involved. Patients in the Registry undergo clinical assessments and receive care as determined by the patient's treating physician.
- Conditions
- Bile Acid Synthesis Disorders
- Being tested
- Cholbam
- Keywords
- Bile Acid Synthesis Disorder, Zellweger Spectrum Disorder, Peroxisomal Disorder, Cholic Acid, Cholbam, The REPLACE Registry
- Medical subject headings
- Zellweger Syndrome, Peroxisomal Disorders
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
CholbamDrug
Cholbam prescribed according to the approved label.
| Study group | Role | What they receive |
|---|---|---|
| Existing User | Patients who have been using Cholbam for at least 30 days Receives: Drug: Cholbam | |
| New User | First-time initiators of Cholbam Receives: Drug: Cholbam |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of participants with worsening cholestasis
Worsening cholestasis will be identified by measuring direct total bilirubin concentration in blood and will be defined as a 25% increase from previous measurement if the total bilirubin is >1mg/dL.
Measured: 10 Years
Number of participants with new-onset cholestasis
Patients with new-onset cholestasis will be identified by detecting abnormal direct bilirubin concentration >1mg/dL or direct bilirubin greater than 20% of the total bilirubin if total bilirubin is >5mg/dL.
Measured: 10 Years
Number of participants with steatorrhea leading to poor growth
Steatorrhea leading to poor growth in children, which will be defined as a decrease in growth percentiles from the original percentile at enrollment to the registry study.
Measured: 10 Years
Changes in serum levels of fat-soluble vitamins
Fat-soluble vitamin (A, D, E, K) deficiencies will be identified by comparing results from serum assays (Vitamin A: Retinol, Vitamin D: 250HD2 + 250HD3, Vitamin K: Serum Vitamin K, Vitamin E: Serum Vitamin E) for each vitamin with standard ranges.
Measured: 10 Years
Neuropathic signs or symptoms related to fat-soluble vitamin deficiencies
Neuropathic signs or symptoms related to fat-soluble vitamin deficiencies (peripheral neuropathy, cerebellar ataxia) will be assessed by the Investigator.
Measured: 10 Years
Number of participants with growth failure
Growth failure that the physician judges to be attributable to malabsorption.
Measured: 10 Years
Death
AEs and SAEs leading to death will be recorded. The relatedness of death to Cholbam or disease progression will be recorded.
Measured: 10 Years
Adverse effects on pregnancy, pregnancy outcomes, and infant status
Adverse effects on pregnancy, pregnancy outcomes, and infant status will be recorded.
Measured: 10 Years
All Adverse Events (AEs) and Serious AEs (SAEs)
All other AEs and SAEs will be collected.
Measured: 10 years
Secondary outcomes (16)
Changes in Cholbam dosing regimens and reasons for any dose modifications or treatment discontinuations
Measured: 10 years
Changes from baseline in weight
For patients aged 18 years of or less, these data will be converted into Z-scores based on the WHO growth standards for infants aged 0-2 years and the Centers for Disease Control and Prevention growth standards for children 2-20 years. Growth failure will be defined as a decrease in percentiles from the original percentile at entry point into the registry study.
Measured: 10 years
Changes from baseline in length/height
For patients aged 18 years of or less, these data will be converted into Z-scores based on the WHO growth standards for infants aged 0-2 years and the Centers for Disease Control and Prevention growth standards for children 2-20 years. Some patients will be adult or will have achieved final height. Growth failure will be defined as a decrease in percentiles from the original percentile at entry point into the registry study.
Measured: 10 years
Changes from baseline in head circumference in infants
For patients aged 18 years of or less, these data will be converted into Z-scores based on the WHO growth standards for infants aged 0-2 years and the Centers for Disease Control and Prevention growth standards for children 2-20 years. Growth failure will be defined as a decrease in percentiles from the original percentile at entry point into the registry study.
Measured: 10 years
Age-appropriate developmental milestones in infants
Measured by WHO Motor Development Milestones
Measured: 10 years
Changes in prothrombin time (PT)
Measured: 10 years
Changes in international normalized ratio (INR)
Measured: 10 years
Changes in albumin
Measured: 10 years
Changes in bilirubin
Measured: 10 years
Changes in direct bilirubin
Measured: 10 years
Changes in alanine aminotransferase (ALT)
Measured: 10 years
Changes in aspartate aminotransferase (AST)
Measured: 10 years
Changes in gamma-glutamyl transferase (GGT)
Measured: 10 years
Changes in alkaline phosphatase
Measured: 10 years
Presence or absence of urinary bile acids and levels of bile acid intermediaries and urinary bile alcohol
Measured: 10 years
All indications for which Cholbam has been prescribed
Description of all indications for which Cholbam has been prescribed
Measured: 10 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted14 Apr 2017
- Study start10 Jul 2017
- Primary completionJul 2038 (estimated)
- Study completionJul 2039 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Bile Acid Synthesis DisordersStudies of the same condition, open and under way.
- 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
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 55 participants (estimated)
- Target duration
- 10 Years
Sponsor and investigators
- Lead sponsor
- Mirum Pharmaceuticals, Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Sagar A Vaidya, MD, PhD, Study director, Vice President, Clinical Development
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03115086
- Sponsor's protocol ID
- 031CHO15001
- Status last verified
- Jul 2026
- First submitted
- 10 Jan 2017
- Last updated
- 31 Jul 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 31 Jul 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Prospective, Observational, Non-Interventional, Post-Marketing, Patient Registry to Collect Data on Routine Clinical Care in Patients Treated With Cholbam® (Cholic Acid)
- ClinicalTrials.gov ID
- NCT03115086
- Acronym / sponsor ID
- 031CHO15001
- Conditions
- Bile Acid Synthesis Disorders
- Keywords
- Bile Acid Synthesis Disorder, Zellweger Spectrum Disorder, Peroxisomal Disorder, Cholic Acid, Cholbam, The REPLACE Registry
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 55 participants (estimated)
- Lead sponsor
- Mirum Pharmaceuticals, Inc.Industry (pharma, biotech, devices)
- Study start
- 10 Jul 2017 (actual)
- Primary completion
- Jul 2038 (estimated)
- Study completion
- Jul 2039 (estimated)
- First posted
- 14 Apr 2017 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
This is a prospective, observational, non-interventional patient registry study designed to document product safety and effectiveness outcomes for 10 years in patients treated with Cholbam, including those who have been using Cholbam for at least 30 days (existing users) and those who are first-time initiators of Cholbam.
Detailed description
No experimental intervention is involved. Patients in the Registry undergo clinical assessments and receive care as determined by the patient's treating physician.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 10 Years
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Existing User | – | Drug: CholbamPatients who have been using Cholbam for at least 30 days |
| New User | – | Drug: CholbamFirst-time initiators of Cholbam |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- All patients with a diagnosis for which Cholbam is indicated are eligible for inclusion in the Registry.
Key inclusion criteria (4 listed)
- Male and female patients, of any age.
- The patient and/or the patient's parent/legal guardian is willing and able to provide signed informed consent, and the patient, if less than 18 years of age, is willing to provide assent as appropriate and in accordance with local regulatory, IRB, and EC requirements.
- The patient has a diagnosis for which Cholbam is indicated.
- The patient is or will be treated with Cholbam at the time of signing the informed consent form (ICF) (enrollment).
Key exclusion criteria (1 listed)
- 1. Patients who, by judgement of the Investigator, will not be able to comply with the requirements of the protocol will be excluded
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 |
|---|---|---|
| CholbamCholbam prescribed according to the approved label. | Drug | Existing User, New User |
Primary outcome
Number of participants with worsening cholestasis
Time frame: 10 Years
Worsening cholestasis will be identified by measuring direct total bilirubin concentration in blood and will be defined as a 25% increase from previous measurement if the total bilirubin is >1mg/dL.
Number of participants with new-onset cholestasis
Time frame: 10 Years
Patients with new-onset cholestasis will be identified by detecting abnormal direct bilirubin concentration >1mg/dL or direct bilirubin greater than 20% of the total bilirubin if total bilirubin is >5mg/dL.
Number of participants with steatorrhea leading to poor growth
Time frame: 10 Years
Steatorrhea leading to poor growth in children, which will be defined as a decrease in growth percentiles from the original percentile at enrollment to the registry study.
Changes in serum levels of fat-soluble vitamins
Time frame: 10 Years
Fat-soluble vitamin (A, D, E, K) deficiencies will be identified by comparing results from serum assays (Vitamin A: Retinol, Vitamin D: 250HD2 + 250HD3, Vitamin K: Serum Vitamin K, Vitamin E: Serum Vitamin E) for each vitamin with standard ranges.
Neuropathic signs or symptoms related to fat-soluble vitamin deficiencies
Time frame: 10 Years
Neuropathic signs or symptoms related to fat-soluble vitamin deficiencies (peripheral neuropathy, cerebellar ataxia) will be assessed by the Investigator.
Number of participants with growth failure
Time frame: 10 Years
Growth failure that the physician judges to be attributable to malabsorption.
Death
Time frame: 10 Years
AEs and SAEs leading to death will be recorded. The relatedness of death to Cholbam or disease progression will be recorded.
Adverse effects on pregnancy, pregnancy outcomes, and infant status
Time frame: 10 Years
Adverse effects on pregnancy, pregnancy outcomes, and infant status will be recorded.
All Adverse Events (AEs) and Serious AEs (SAEs)
Time frame: 10 years
All other AEs and SAEs will be collected.
16 secondary outcomes
Changes in Cholbam dosing regimens and reasons for any dose modifications or treatment discontinuations
Time frame: 10 years
Changes from baseline in weight
Time frame: 10 years
Changes from baseline in length/height
Time frame: 10 years
Changes from baseline in head circumference in infants
Time frame: 10 years
Age-appropriate developmental milestones in infants
Time frame: 10 years
Changes in prothrombin time (PT)
Time frame: 10 years
Changes in international normalized ratio (INR)
Time frame: 10 years
Changes in albumin
Time frame: 10 years
Changes in bilirubin
Time frame: 10 years
Changes in direct bilirubin
Time frame: 10 years
Changes in alanine aminotransferase (ALT)
Time frame: 10 years
Changes in aspartate aminotransferase (AST)
Time frame: 10 years
Changes in gamma-glutamyl transferase (GGT)
Time frame: 10 years
Changes in alkaline phosphatase
Time frame: 10 years
Presence or absence of urinary bile acids and levels of bile acid intermediaries and urinary bile alcohol
Time frame: 10 years
All indications for which Cholbam has been prescribed
Time frame: 10 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 31 Jul 2026.
- Individual participant dataSharing planned: No
Related trials for Bile Acid Synthesis Disorders
Active, not recruitingObservational study
Early Check: Expanded Screening in Newborns
Spinal Muscular Atrophy, Fragile X Syndrome
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Bile Acids As Determinants of Postprandial Metabolism
Health, Bile Acid Synthesis Disorders
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.
Sagar A Vaidya, MD, PhD study director
Vice President, Clinical Development
24 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Bile Acid Synthesis Disorders, run by Mirum Pharmaceuticals, Inc. at 24 sites in United States.
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 1 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: under way, not looking for participants, as of the sponsor's last update on 31 Jul 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 24 sites in United States. 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.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
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?
Number of participants with worsening cholestasis (time frame: 10 Years). The study lists 9 primary outcomes in all. 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 31 Jul 2026.