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Active, Not Recruiting

NCT Number: NCT03115086

The REPLACE Registry for 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.

Active, Not Recruiting

This study is active but is not currently recruiting participants.

Key information

Conditions

Bile Acid Synthesis Disorders Abnormalities, Multiple Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Central Nervous System Diseases Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Digestive System Diseases Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Genetic Diseases, Inborn Kidney Diseases Liver Diseases Male Urogenital Diseases Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Nutritional and Metabolic Diseases Peroxisomal Disorders Urogenital Diseases Urologic Diseases Zellweger Syndrome

Sex eligibility

All sexes

Study type

Observational

Primary location

University of Alabama Birmingham, Birmingham, Alabama, United States

Loading trial locations.

About this study

No experimental intervention is involved. Patients in the Registry undergo clinical assessments and receive care as determined by the patient's treating physician.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • 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).

Exclusion criteria

  • Patients who, by judgement of the Investigator, will not be able to comply with the requirements of the protocol will be excluded

Treatment and study plan

Cholbam

Drug

Cholbam prescribed according to the approved label.

Primary outcomes

  1. 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.

  2. 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.

  3. 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.

  4. 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.

  5. 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.

  6. Number of participants with growth failure

    Time frame: 10 Years

    Growth failure that the physician judges to be attributable to malabsorption.

  7. 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.

  8. 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.

  9. All Adverse Events (AEs) and Serious AEs (SAEs)

    Time frame: 10 years

    All other AEs and SAEs will be collected.

Secondary outcomes

  1. Changes in Cholbam dosing regimens and reasons for any dose modifications or treatment discontinuations

    Time frame: 10 years

  2. Changes from baseline in weight

    Time frame: 10 years

    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.

  3. Changes from baseline in length/height

    Time frame: 10 years

    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.

  4. Changes from baseline in head circumference in infants

    Time frame: 10 years

    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.

  5. Age-appropriate developmental milestones in infants

    Time frame: 10 years

    Measured by WHO Motor Development Milestones

  6. Changes in prothrombin time (PT)

    Time frame: 10 years

  7. Changes in international normalized ratio (INR)

    Time frame: 10 years

  8. Changes in albumin

    Time frame: 10 years

  9. Changes in bilirubin

    Time frame: 10 years

  10. Changes in direct bilirubin

    Time frame: 10 years

  11. Changes in alanine aminotransferase (ALT)

    Time frame: 10 years

  12. Changes in aspartate aminotransferase (AST)

    Time frame: 10 years

  13. Changes in gamma-glutamyl transferase (GGT)

    Time frame: 10 years

  14. Changes in alkaline phosphatase

    Time frame: 10 years

  15. Presence or absence of urinary bile acids and levels of bile acid intermediaries and urinary bile alcohol

    Time frame: 10 years

  16. All indications for which Cholbam has been prescribed

    Time frame: 10 years

    Description of all indications for which Cholbam has been prescribed

Sponsors and collaborators

Lead sponsor

Mirum Pharmaceuticals, Inc.

Industry

Registry information

Official study title

A Prospective, Observational, Non-Interventional, Post-Marketing, Patient Registry to Collect Data on Routine Clinical Care in Patients Treated With Cholbam® (Cholic Acid)

Important dates

Study start
2017
Primary completion
2038
Study completion
2039
First posted
Apr 14, 2017
Registry last updated
Oct 2, 2023

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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