Liver dysfunction is almost universal in Zellweger spectrum disorders1,2
A patient diagnosed with a Zellweger spectrum disorder, such as infantile refsum disease, neonatal adrenoleukodystrophy, or Zellweger syndrome, may need regular testing of their liver function and monitoring.3–5
A patient with no signs of liver involvement should be monitored regularly for any changes.
Patients with affected livers may have one or more of the following
- Elevated liver function tests
- Pale, foul-smelling stools
- Poor growth, or failure to thrive, caused by an inability to absorb fat soluble vitamins like vitamins A, D, E, and K
If a patient shows these signs of liver involvement, talk to your doctor about CHOLBAM® therapy.
FREE Genetic Screening for Cholestasis for Qualifying Patients
Retrophin is committed to providing support to patients, families and caregivers. Retrophin is offering patients free genetic testing to help find potentional causes of cholestasis. Your doctor can gain access to this program by visiting testcholestasis.com. We encourage you to speak to your doctor about this test and whether or not you may be a candidate.
FREE Atypical Bile Acid Test for Zellweger Spectrum Disorders for Qualifying Patients
What test has your child or loved one had for their liver? It is important to know that the liver will most likely become affected at some point in your child's life. The atypical bile acid test is not a routine test your doctor has likely run. This simple blood test is important to consider if your child has been diagnosed with Zellweger spectrum disorder. Retrophin is invested in the well-being of patients with Zellweger spectrum disorders and has partnered with Cincinnati Children's Hospital Medical Center to offer a free laboratory test. Download the Atypical Bile Acid Test form and talk to your child’s physician about running this important test.
Zellweger Spectrum Disorders CCHMC Free Testing Program Patient Overview
1. Braverman NE, Raymond GV, Rizzo WB, et al. Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines. Mol Genet Metab. 2016;117(3):313-321. 2. Bove KE, Heubi JE, Balistreri WF, Setchell KDR. Bile acid synthetic defects and liver disease: a comprehensive review. Pediatr Dev Pathol. 2004;7(4):315-334. 3. Steinberg SJ, Raymond GV, Braverman NE, Moser AB. Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum. In: Pagon RA, Adam MP, Ardinger HH, et al., eds. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993. 4. Wanders RJA, Ferdinandusse S. Peroxisomes, peroxisomal diseases, and the hepatotoxicity induced by peroxisomal metabolites. Curr Drug Metab. 2012;13(10):1401-1411. 5. CHOLBAM® [prescribing information]. Retrophin, Inc.; March 2015.
Indication and Usage
CHOLBAM® 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 show signs and symptoms of liver disease, steatorrhea (fatty stools), or complications from decreased fat soluble vitamins absorption (A, D, E, K)
Limitation of Use:
The safety and effectiveness of CHOLBAM® on extrahepatic manifestations of bile acid synthesis disorders due to single enzyme defects or peroxisomal disorder including Zellweger spectrum disorders have not been established.
Important Safety Information
Warnings and Precautions—Exacerbation of Liver Impairment
- Monitor liver function and discontinue CHOLBAM® (cholic acid) in patients who develop worsening of liver function while on treatment.
- Monitor AST, ALT, GGT, alkaline phosphatase, bilirubin, and international normalized ratio (INR) every month for the first 3 months, every 3 months for the next 9 months, every 6 months during the next 3 years and annually thereafter. Administer the lowest dose that effectively maintains liver function.
- Discontinue CHOLBAM® if liver function does not improve within 3 months of starting treatment, if complete biliary obstruction develops, or if there are persistent clinical or laboratory indicators of worsening liver function or cholestasis; continue to monitor liver function and consider restarting at a lower dose when parameters return to baseline.
In the CHOLBAM® clinical trials, diarrhea was the most common adverse reaction in approximately 2% of the patient population. All other adverse reactions are less than or equal to 1% of the patient population.
- Bile Salt Efflux Pump (BSEP) Inhibitors (eg, cyclosporine): Avoid concomitant use; if concomitant use is necessary, monitor serum transaminases and bilirubin.
- Bile Acid Resins and Aluminum-Based Antacids: 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 or aluminum-based antacids.
No studies in pregnant women or animal reproduction studies have been conducted with CHOLBAM®. Women who become pregnant during CHOLBAM® treatment are encouraged to call 1-844-202-6262.
Endogenous 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.
There are no animal lactation data and no data from case reports available in the published literature.
In the event of overdose (elevated GGT and ALT), the patient should be monitored and treated symptomatically.
Elevated serum gamma glutamyltransferase (GGT) and serum alanine aminotransferase (ALT) may indicate CHOLBAM® overdose. Continue to monitor laboratory parameters of liver function and consider restarting at a lower dose when the parameters return to baseline.
Please see full prescribing information for CHOLBAM® (cholic acid) 50 mg and 250 mg capsules.