Resources for caregivers and patients with PBD‑ZSD
Ask the expert on peroxisomal biogenesis disorder-Zellweger spectrum disorder (PBD‑ZSD): What you need to know
Presented by Dr. James Heubi, former Pediatric Gastroenterologist at Cincinnati Children’s Hospital, this webinar provides an overview of PBD‑ZSD and discusses clinical features, testing for diagnosing and monitoring the disease, and management and treatment protocols.
Caregiver interview video
Parents of 2 sons with PBD‑ZSD talk about their daily routines, the challenges they face, their interactions with healthcare professionals, and the support system they use to help manage care for their sons.
Global Foundation for Peroxisomal Disorders
The GFPD helps children and families faced with peroxisomal disorders through educational programs, research, and support services.
National Organization for Rare Diseases
Dedicated to helping people with rare orphan diseases and assisting the organizations that serve these patients, NORD is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and service.
The Childhood Liver Disease Research Network
ChiLDReN is a collaborative team of doctors, nurses, research coordinators, medical facilities, and patient support organizations that help patients join research studies.
*Mirum Pharmaceuticals is not affiliated with these resources.
CHOLBAM® is a registered trademark of Mirum Pharmaceuticals, Inc. Total Care HUB® is a transitional service provided by and a registered trademark of Travere Therapeutics, Inc.
Get your PBD‑ZSD patients
started on CHOLBAM
REFERENCES: 1. Global Foundation for Peroxisomal Disorders website. http://www.thegfpd.org/. Accessed January 27, 2016. 2. National Organization for Rare Disorders website. http://www.rarediseases.org/. Accessed May 25, 2015. 3. Childhood Liver Disease Research Network website. https://www.childrennetwork.org/. Accessed May 25, 2015.
INDICATIONCHOLBAM® (cholic acid) is a bile acid indicated for
- Treatment of bile acid synthesis disorders due to single enzyme defects.
- Adjunctive treatment of peroxisomal disorders, including Zellweger spectrum disorders, in patients who exhibit manifestations of liver disease, steatorrhea, or complications from decreased fat-soluble vitamin absorption.
LIMITATIONS OF USEThe safety and effectiveness of CHOLBAM on extrahepatic manifestations of bile acid synthesis disorders due to single enzyme defects or peroxisomal disorders, including Zellweger spectrum disorders, have not been established.
IMPORTANT SAFETY INFORMATION
WARNINGS AND PRECAUTIONS – Exacerbation of liver impairment
- Monitor liver function and discontinue CHOLBAM in patients who develop worsening of liver function while on treatment.
- Concurrent elevations of serum gamma glutamyltransferase (GGT) and alanine aminotransferase (ALT) may indicate CHOLBAM overdose.
- Discontinue treatment with CHOLBAM at any time if there are clinical or laboratory indicators of worsening liver function or cholestasis.
- The most common adverse reactions (≥1%) are diarrhea, reflux esophagitis, malaise, jaundice, skin lesion, nausea, abdominal pain, intestinal polyp, urinary tract infection, and peripheral neuropathy.
- Inhibitors of Bile Acid Transporters: Avoid concomitant use of inhibitors of the bile salt efflux pump (BSEP) such as cyclosporine. Concomitant medications that inhibit canalicular membrane bile acid transporters such as the BSEP may exacerbate accumulation of conjugated bile salts in the liver and result in clinical symptoms. If concomitant use is deemed necessary, monitoring of serum transaminases and bilirubin is recommended.
- Bile Acid Binding Resins: Bile acid binding resins such as cholestyramine, colestipol, or colesevelam adsorb and reduce bile acid absorption and may reduce the efficacy of CHOLBAM. Take CHOLBAM at least 1 hour before or 4 to 6 hours (or at as great an interval as possible) after a bile acid binding resin.
- Aluminum-Based Antacids: Aluminum-based antacids have been shown to adsorb bile acids in vitro and can reduce the bioavailability of CHOLBAM. Take CHOLBAM at least 1 hour before or 4 to 6 hours (or at as great an interval as possible) after an aluminum-based antacid.
PREGNANCYNo studies in pregnant women or animal reproduction studies have been conducted with CHOLBAM.
LACTATIONEndogenous cholic acid is present in human milk. Clinical lactation studies have not been conducted to assess the presence of CHOLBAM in human milk, the effects of CHOLBAM on the breastfed infant, or the effects of CHOLBAM on milk production. The developmental and health benefits of breastfeeding should be considered along with the mother’s clinical need for CHOLBAM and any potential adverse effects on the breastfed infant from CHOLBAM or from the underlying maternal condition.
GERIATRIC USEIt is not known if elderly patients respond differently from younger patients.
- Discontinue treatment with CHOLBAM if liver function does not improve within 3 months of the start of treatment.
- Discontinue treatment with CHOLBAM at any time if there are clinical or laboratory indicators of worsening liver function or cholestasis. Continue to monitor laboratory parameters of liver function and consider restarting at a lower dose when the parameters return to baseline.