Frequently
Asked Questions
Get answers to frequently asked questions about peroxisomal biogenesis disorder-
Zellweger spectrum disorder (PBD-ZSD), treatment, and more.
PBD-ZSD
PBD-ZSD is a group of rare genetic disorders characterized by the loss of functioning peroxisomes.
Peroxisomes are the important parts of cells in charge of producing bile acids that help break down fats and eliminate waste from the body. In people with PBD-ZSD, these peroxisomes only partially work or do not work at all. This results in the buildup of abnormal bile acids, which can become toxic to the liver.
Bile acids are a component of bile. Bile is a fluid made in the liver that contains substances the body needs to break down food and get proper nutrition. Bile helps the body:
- Absorb dietary fats, fat-soluble vitamins, and other nutrients
- Get rid of excess cholesterol, waste, and toxins
Two key bile acids necessary for proper digestion, absorption, and toxin removal are:
- Cholic acid
- Chenodeoxycholic acid
These 2 bile acids allow the liver to work normally by:
- Promoting bile flow out of the liver
- Assisting in the absorption of fats and fat-soluble vitamins
- Eliminating cholesterol from the body
Abnormal bile flow or production can result in:
- Poor absorption of vital nutrients
- Accumulation of toxic materials in the body
One of the most common symptoms of PBD-ZSD is jaundice.
Other signs and symptoms of liver involvement include:
- Vitamin deficiencies (a lack of vitamins A, D, E, K)
- Pale, foul-smelling stool
- Dark urine
- Enlarged liver or spleen
- Liver dysfunction
Your or your loved one’s doctor can run a simple blood test called an atypical bile acid test to detect the presence of atypical bile acids that are harmful to the liver.
Currently, there is no cure for PBD-ZSD. However, there are ways to help support you or your child manage symptoms. Since PBD-ZSD is caused by a defect in peroxisomes where bile acids are not made correctly, bile acid replacement therapy may help people with PBD-ZSD who show signs of liver involvement.
CHOLBAM is an adjunctive (taken with other medicines) replacement therapy that may help prevent the buildup of abnormal bile acids that occur in patients who have liver involvement in PBD-ZSD. Learn about treating PBD-ZSD.
About CHOLBAM
CHOLBAM is a bile replacement medication that is taken by mouth. CHOLBAM is indicated for:
- Patients with bile acid synthesis disorders due to single enzyme defects
- Adjunctive treatment (taken with other medicines) 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 vitamin absorption (A, D, E, K)
The safety and effectiveness of CHOLBAM on symptoms outside the liver have not been studied.
CHOLBAM is taken by mouth each day. It is recommended to take CHOLBAM with food. Do not crush or chew capsules. If you or your loved one is unable to swallow capsules, talk to your doctor for instructions on how to take CHOLBAM. CHOLBAM is available in 50-mg and 250-mg capsules.
CHOLBAM can be taken in 2 different ways:
1. The capsule can be swallowed.
2. The capsule can be opened and its contents can be mixed with liquid/food.
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 antacid.
As with any medication, there is a possibility of side effects. In clinical studies, the most common side effect in about 2% of patients taking CHOLBAM was diarrhea. All other side effects were less than or equal to 1% of patients.
Patients taking CHOLBAM will need to undergo laboratory testing periodically while on treatment to assess liver function. CHOLBAM may worsen liver function. Call your or your loved one’s doctor right away if any of the following occur, as these may be signs of worsening liver function:
- Yellowing of the skin or whites of the eyes
- Dark or brown (tea-colored) urine
- Pain on the right side of the stomach
- Bleeding or bruising that occurs more easily than normal
- Increased tiredness
Discuss any side effects that concern you with your or your loved one’s doctor.
It’s important to take CHOLBAM every day to help keep the normal balance of bile acids in the liver. Avoid missing doses and do not stop therapy without talking with your or your loved one’s doctor.
CHOLBAM capsules can also be opened and mixed with your or your loved one’s favorite syrup (eg, chocolate syrup or maple syrup), stirred into a spoonful of yogurt or applesauce, or mixed with a coffee creamer.
People taking CHOLBAM should see their doctor regularly to be sure CHOLBAM is working properly. Your or your loved one’s doctor will monitor liver function with appropriate tests every month for the first 3 months, every 3 months for the next 9 months, every 6 months for the next 3 years, and annually thereafter. Your or your loved one’s doctor may discontinue CHOLBAM therapy if liver function does not improve within 3 months of starting treatment, if complete biliary obstruction develops, or if signs or symptoms of worsening liver function or cholestasis appear.
The amount of medication may change as weight changes. Be sure to monitor this carefully and have your child’s or loved one’s doctor adjust as needed, particularly during periods of rapid growth. Do not adjust the dose without first consulting with your or your loved one’s doctor.
Patient Support
Mirum Access Plus is a support program for patients who have been prescribed CHOLBAM capsules and their caregivers.
Once enrolled in the program, you will be assigned a dedicated team of professionals to assist you with financial support, home delivery options, and to answer questions you may have about the disease or treatment.
In order to receive CHOLBAM, you or your loved one will need to enroll in Mirum Access Plus. This allows us to verify your or your loved one’s insurance to see if you or they qualify for any additional assistance programs, as well as deliver CHOLBAM to your home and refill prescriptions. Learn more about how to enroll in Mirum Access Plus or call 1-855-MRM-4YOU (1-855-676-4968), Monday through Friday, 8:00 am to 8:00 pm ET.
A Mirum Access Plus Coordinator will work closely with your or your loved one’s doctor’s office and insurance plan to manage the process. If you or your loved one need assistance paying for your medicine, a Mirum Access Plus Coordinator will share financial support options for which you or your loved one may be eligible.
If you or your loved one need assistance paying for your medicine, a Mirum Access Plus Coordinator will share financial support for which you or your loved one may be eligible.
For any questions about financial assistance, call 1-855-MRM-4YOU (1-855-676-4968), Monday through Friday, 8:00 am to 8:00 pm ET.
Once your or your loved one’s prescription is approved, a full-service pharmacy will ship the medicine straight to your or your loved one’s doorstep overnight. The Mirum Access Plus pharmacy will contact you with refill reminders and assist with any additional steps needed before approving the refill. Pharmacists are available by phone—24 hours a day, 7 days a week—to answer any questions you or your loved one may have about CHOLBAM. When you or your loved one enroll in the enhanced Mirum Access Plus program, you can enjoy a personalized experience that’s designed to help you start and stay on therapy with education and resources.
Yes. Mirum Access Plus provides convenient home delivery and prescription refills, so you can save on trips to the pharmacy and stay on schedule with medication.
Talk to a health care provider to learn more about CHOLBAM.
CHOLBAM may help when managing PBD-ZSD
