Cholestasis is a condition characterized by a reduction or stoppage of bile flow from the liver, which can occur either within the liver (intrahepatic) or in the bile ducts outside the liver (extrahepatic). This impairment leads to the accumulation of bile acids in the liver and bloodstream, resulting in symptoms such as jaundice (yellowing of the skin and eyes), severe itching, dark urine, pale stools, and sometimes abdominal pain. Causes of cholestasis include liver diseases like hepatitis, blockages from gallstones or tumors, certain medications, and genetic disorders.
Genetic testing for cholestasis is primarily used to identify genetic mutations that may cause or contribute to the development of cholestasis, particularly in cases where the condition appears without clear external causes such as tumors or gallstones. This type of testing is crucial for diagnosing hereditary cholestatic liver diseases, such as progressive familial intrahepatic cholestasis, and for guiding treatment decisions. Additionally, understanding the genetic basis of cholestasis can help in assessing the risk to other family members and inform decisions regarding family planning and management strategies tailored to the specific genetic abnormalities found.
What is the Program?
Mirum Pharmaceuticals has partnered with PreventionGenetics to offer a no-cost genetic testing program to help identify the genetic cause of cholestasis through a 77-gene panel. This program is available to US resident who meet eligibility criteria and must be ordered by a qualified healthcare provider.
Patient must meet ONE of the criteria below:
AND patient must meet ALL criteria below:
Order the test, collect the appropriate specimen, and ship it to the lab.
Program Information
The Cholestasis Genetic Testing Program is designed to identify genetic mutations that contribute to various forms of cholestasis, particularly those forms that are hereditary or idiopathic. By pinpointing the specific genetic factors involved, the program helps in confirming the diagnosis, informing treatment plans, and assessing risk for family members.
This program is typically intended for individuals who have symptoms of cholestasis, such as jaundice, itching, and pale stools, especially when no common causes like gallstones or tumors are evident. It is also suitable for individuals with a family history of liver diseases, suggesting a potential genetic component.
The program generally includes comprehensive genetic panels that test for a variety of genes known to be associated with cholestasis. These tests may involve sequencing techniques to detect mutations that can disrupt bile flow either within the liver or in the bile ducts.
Patients interested in the program need a referral from their healthcare provider, who will submit an application detailing the patient’s medical history, symptoms of cholestasis, and any previous test results. This application helps ensure that genetic testing is appropriate and potentially beneficial for the patient.
Genetic testing for cholestasis can provide a clearer understanding of the underlying causes of the condition, facilitating more targeted and effective treatments. Additionally, it can help identify at-risk family members who may benefit from early diagnosis and management, thereby improving long-term outcomes.
Results from the genetic testing are typically available within a few weeks, depending on the complexity of the analysis and the specific genes being tested. Patients and their healthcare providers will be notified as soon as the results are processed and will receive guidance on interpreting and utilizing the findings.
Mirum Pharmaceuticals, Inc. is a biopharmaceutical company dedicated to transforming the treatment of rare diseases affecting children and adults. Mirum has three approved medications: LIVMARLI® (maralixibat) oral solution, Cholbam® (cholic acid) capsules, and Chenodal® (chenodiol) tablets.
LIVMARLI, an IBAT inhibitor, is approved for the treatment of cholestatic pruritus in patients with Alagille syndrome in the U.S. (three months and older), in Europe (two months and older), and in Canada. Mirum has also submitted LIVMARLI for approval in the U.S. in cholestatic pruritus in PFIC patients three months of age and older and in Europe in PFIC for patients two months of age and older. Cholbam is FDA-approved for the treatment of bile acid synthesis disorders due to single enzyme defects and adjunctive treatment of peroxisomal disorders in patients who show signs or symptoms or liver disease. Chenodal has received medical necessity recognition by the FDA to treat patients with cerebrotendinous xanthomatosis (CTX).
Mirum’s late-stage pipeline includes two investigational treatments for debilitating liver diseases. Volixibat, an IBAT inhibitor, is being evaluated in two potentially registrational studies including the Phase 2b VISTAS study for primary sclerosing cholangitis and Phase 2b VANTAGE study for primary biliary cholangitis. Lastly, Chenodal, has been evaluated in a Phase 3 clinical study, RESTORE, to treat patients with CTX, with positive topline results reported in 2023.
To learn more about Mirum, visit mirumpharma.com and follow Mirum on Facebook, LinkedIn, Instagram and Twitter.