Journal article
Cholbam® and Zellweger spectrum disorders: treatment implementation and management
Orphanet journal of rare diseases, Vol.16(1), 388
09/14/2021
DOI: 10.1186/s13023-021-01940-z
PMCID: PMC8439061
PMID: 34521419
Abstract
Background Zellweger spectrum disorders (ZSDs) are a rare, heterogenous group of autosomal recessively inherited disorders characterized by reduced peroxisomes numbers, impaired peroxisomal formation, and/or defective peroxisomal functioning. In the absence of functional peroxisomes, bile acid synthesis is disrupted, and multisystem disease ensues with abnormalities in the brain, liver, kidneys, muscle, eyes, ears, and nervous system. Main body Liver disease may play an important role in morbidity and mortality, with hepatic fibrosis that can develop as early as the postnatal period and often progressing to cirrhosis within the first year of life. Because hepatic dysfunction can have numerous secondary effects on other organ systems, thereby impacting the overall disease severity, the treatment of liver disease in patients with ZSD is an important focus of disease management. Cholbam (R) (cholic acid), approved by the U.S. Food and Drug Administration in March 2015, is currently the only therapy approved as adjunctive treatment for patients with ZSDs and single enzyme bile acid synthesis disorders. This review will focus on the use of CA therapy in the treatment of liver disease associated with ZSDs, including recommendations for initiating and maintaining CA therapy and the limitations of available clinical data supporting its use in this patient population. Conclusions Cholbam is a safe and well-tolerated treatment for patients with ZSDs that has been shown to improve liver chemistries and reduce toxic bile acid intermediates in the majority of patients with ZSD. Due to the systemic impacts of hepatic damage, Cholbam should be initiated in patients without signs of advanced liver disease.
Details
- Title: Subtitle
- Cholbam® and Zellweger spectrum disorders: treatment implementation and management
- Creators
- Janaina Nogueira Anderson - Medical University of South CarolinaZineb Ammous - Community Hlth Clin, Topeka, IN USAYasemen Eroglu - University of IowaErick Hernandez - Miami Children's HospitalJames Heubi - Cincinnati Children's Hospital Medical CenterRyan Himes - Ochsner Health SystemSirish Palle - Oklahoma City University
- Resource Type
- Journal article
- Publication Details
- Orphanet journal of rare diseases, Vol.16(1), 388
- Publisher
- Springer Nature
- DOI
- 10.1186/s13023-021-01940-z
- PMID
- 34521419
- PMCID
- PMC8439061
- ISSN
- 1750-1172
- eISSN
- 1750-1172
- Number of pages
- 13
- Grant note
- Travere Therapeutics, Inc.
- Language
- English
- Date published
- 09/14/2021
- Academic Unit
- Stead Family Department of Pediatrics; Gastroenterology, Hepatology, Pancreatology, and Nutrition
- Record Identifier
- 9984694752402771
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