Why testing for
PBD-ZSD matters


Testing can help confirm a diagnosis and see how much of the liver is involved

Mirum Pharmaceuticals offers no-cost testing programs to help improve the diagnosis and understanding of peroxisomal biogenesis disorder-Zellweger spectrum disorder (PBD-ZSD).

Genetic testing will tell you if your child has a change in PEX genes that are associated with PBD-ZSD.

Genetic testing

Genetic testing will tell you if your child has a change, or a mutation, in certain genes called PEX genes that are associated with PBD-ZSD. A genetic test is available to patients at no cost that can help diagnose PBD-ZSD.

If the genetic test comes back positive for PBD-ZSD, an additional test called an atypical bile acid test is performed to determine if the liver is impacted by the condition.

Your doctor can access this genetic testing program by visiting testzsd.com. Talk to your doctor about genetic testing for PBD-ZSD today.

View Test Information

Atypical bile acid testing

If your child has been diagnosed with PBD-ZSD, your child’s doctor can run a blood test called an atypical bile acid test. Atypical bile acid tests are less common but can give your doctor more information about the health of your child’s liver. High levels of atypical bile acids in your child’s blood serum may indicate potential involvement of the liver. This testing program is a partnership between Mirum Pharmaceuticals and the Cincinnati Children’s Hospital Medical Center.

This test is available at no cost to you and can be ordered through your child’s doctor. Download the atypical bile acid test information and talk to your child’s doctor about running this important test.

Download Test Information
Atypical bile acid blood tests can give your doctor more information about the health of your child's liver.

WHAT IS CHOLBAM® (cholic acid) capsules?

CHOLBAM is a prescription medicine. It is a bile acid used for

  • Treatment of bile acid synthesis disorders (malfunction in the production of bile acid in the liver) due to a lack of a single enzyme responsible for bile acid production.
  • Treatment (in addition to other treatments) of peroxisomal disorders (a loss of function in important parts of the cell), including Zellweger spectrum disorders, in patients who show signs or symptoms of liver disease, pale stools due to too much fat, or problems resulting from not absorbing certain vitamins (A, D, E, K).

The safety and effectiveness of CHOLBAM on symptoms outside of the liver have not been studied.

IMPORTANT SAFETY INFORMATION

CHOLBAM may not be right for you. Before taking CHOLBAM, tell your doctor about:

  • All health conditions you may have and any medications you may be taking.
  • If you are pregnant or plan to become pregnant.
  • If you are breastfeeding or plan to breastfeed.

 

What are the possible side effects of CHOLBAM?

  • Serious Side Effects: You will need to undergo laboratory testing periodically while on treatment to assess liver function. CHOLBAM may worsen liver function. Tell your doctor right away if you experience symptoms associated with worsening of liver function (e.g., skin or the whites of eyes turn yellow, urine turns dark or brown [tea colored], pain on the right side of stomach, bleeding or bruising occurs more easily than normal, or increased lethargy). Your doctor will decide if you need to discontinue treatment with CHOLBAM.
  • Most Common Side Effects: Diarrhea, acid reflux that damages the lining of the esophagus, discomfort and fatigue, yellowing of skin or eyes, skin lesion, nausea, abdominal pain, formation of growths in the intestinal tract, urinary tract infection, nerve damage causing change in sensation in extremities.

These are not all the possible side effects of CHOLBAM. Tell your doctor if you have any side effect that bothers you or that does not go away.

You may report side effects to FDA at 1-800-FDA-1088 or www.fda.gov/medwatch. You may also report side effects to Mirum Pharmaceuticals at 1-855-MRM-4YOU.

Please see accompanying full Prescribing Information for additional Important Safety Information.

SEE MORE

WHAT IS CHOLBAM® (cholic acid) capsules?

CHOLBAM is a prescription medicine. It is a bile acid used for

  • Treatment of bile acid synthesis disorders (malfunction in the production of bile acid in the liver) due to a lack of a single enzyme responsible for bile acid production.
  • Treatment (in addition to other treatments) of peroxisomal disorders (a loss of function in important parts of the cell), including Zellweger spectrum disorders, in patients who show signs or symptoms of liver disease, pale stools due to too much fat, or problems resulting from not absorbing certain vitamins (A, D, E, K).

 

The safety and effectiveness of CHOLBAM on symptoms outside of the liver have not been studied.

IMPORTANT SAFETY INFORMATION

CHOLBAM may not be right for you. Before taking CHOLBAM, tell your doctor about:

  • All health conditions you may have and any medications you may be taking.
  • If you are pregnant or plan to become pregnant.
  • If you are breastfeeding or plan to breastfeed.

 

What are the possible side effects of CHOLBAM?

  • Serious Side Effects: You will need to undergo laboratory testing periodically while on treatment to assess liver function. CHOLBAM may worsen liver function. Tell your doctor right away if you experience symptoms associated with worsening of liver function (e.g., skin or the whites of eyes turn yellow, urine turns dark or brown [tea colored], pain on the right side of stomach, bleeding or bruising occurs more easily than normal, or increased lethargy). Your doctor will decide if you need to discontinue treatment with CHOLBAM.
  • Most Common Side Effects: Diarrhea, acid reflux that damages the lining of the esophagus, discomfort and fatigue, yellowing of skin or eyes, skin lesion, nausea, abdominal pain, formation of growths in the intestinal tract, urinary tract infection, nerve damage causing change in sensation in extremities.

These are not all the possible side effects of CHOLBAM. Tell your doctor if you have any side effect that bothers you or that does not go away.

You may report side effects to FDA at 1-800-FDA-1088 or www.fda.gov/medwatch. You may also report side effects to Mirum Pharmaceuticals at 1-855-MRM-4YOU.

Please see accompanying full Prescribing Information for additional Important Safety Information.