No-cost testing for patients with BASD
Mirum Pharmaceuticals is invested in the well-being of patients with bile acid synthesis disorder (BASD) and offers no-cost testing programs to help improve the diagnosis and management of patients.
PreventionGenetics 77-gene cholestasis panel*
In partnership with PreventionGenetics, Mirum Pharmaceuticals offers a no-cost testing program for qualifying patients with cholestasis to help identify potential genetic causes, many of which may be life-threatening.
To order the panel:
- Visit TestCholestasis.com for program details, including patient criteria.
- Choose either a blood or saliva collection kit.
- Receive your complete collection kit (with a return envelope and shipping labels). It will be sent to you within 48 hours.
- Send specimen back to PreventionGenetics.
- Receive results generally 2 to 4 weeks after specimen is received.
No-cost atypical bile acid test*
Mirum Pharmaceuticals and Cincinnati Children’s Hospital offer no-cost mass spectrometry testing for qualified patients. The test detects the presence of unique and specific atypical bile acids and intermediates associated with liver disease.
To qualify, patients must meet one of the following criteria:
- Pathogenic variant or variance of unknown significance from a genetic test on one of the following genes:
- HSD3B7, AKR1D1, AMACR, or CYP7B1
- Negative result on genetic test, but patient has GGT ≤150 IU/L and direct bilirubin >1 mg/dL.
Patients will also qualify if they have a genetic test result with pathogenic or likely pathogenic heterozygous mutation on any PEX gene other than the PEX7 gene.
Test results are provided in approximately 2 weeks.
*These resources are provided at no cost to patients, physicians, or payers. Programs may be canceled or changed at any time.
Help get your BASD patients started on CHOLBAM
INDICATION
CHOLBAM® (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 USE
The 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.
ADVERSE REACTIONS
- 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.
DRUG INTERACTIONS
- 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.
PREGNANCY
No studies in pregnant women or animal reproduction studies have been conducted with CHOLBAM.LACTATION
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. 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 USE
It is not known if elderly patients respond differently from younger patients.HEPATIC IMPAIRMENT
- 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.
OVERDOSAGE
Concurrent elevations of serum GGT and serum ALT may indicate CHOLBAM overdose. In the event of overdose, the patient should be monitored and treated symptomatically. Continue to monitor laboratory parameters of liver function and consider restarting at a lower dose when the parameters return to baseline.Please see accompanying full Prescribing Information for additional Important Safety Information.