Connecting you to helpful resources


Children holding hands with elders

If your child or loved one has been diagnosed with Smith-Lemli-Opitz Syndrome (SLOS), you may be faced with different challenges along his or her journey. Having the right resources and support can make a difference in knowing how to handle new situations if they arise.

Downloadable content

Smith-Lemli-Opitz Syndrome Patient-Caregiver Resource Guide

Intended to help patients and caregivers learn more about SLOS, the guide contains useful information about SLOS, CHOLBAM® (cholic acid), what to ask the doctor during scheduled visits, and helpful resources to keep the patient or caregiver connected with the SLOS community.

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Talking to Your Doctor About CHOLBAM® (cholic acid)

This guide contains useful information about SLOS and CHOLBAM, and whether CHOLBAM may be the right treatment option. This guide may also help you think of additional questions to ask your doctor during scheduled visits.

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Healthcare Professional Letter for Smith-Lemli-Opitz Syndrome (SLOS)

This customizable letter aims to educate healthcare professionals who may not know much about SLOS, such as when visiting an emergency department or a new doctor’s office.

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Connect with helpful organizations

There are organizations dedicated to helping people manage SLOS and learn more about the disorder.

Smith-Lemli-Opitz Foundation

resources

The Smith-Lemli-Opitz Foundation works worldwide to improve the quality of life for people with Smith-Lemli-Opitz Syndrome. The Smith-Lemli-Opitz Foundation continues to raise awareness of the syndrome and funds research to improve treatments with the hope of someday finding a cure for Smith-Lemli-Opitz Syndrome.

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National Organization of Rare Disorders

resources

Learn about SLOS from the National Organization for Rare Disorders (NORD)—an organization dedicated to identifying, treating, and curing rare disorders through education, advocacy, research, and service.

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GARD Genetic and Rare Diseases Information Center

resources

GARD is a program of the National Institutes of Health (NIH) that provides free access to reliable, easy to understand information about genetic and rare diseases.

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The Human Phenotype Ontology

resources

The Human Phenotype Ontology (HPO) project provides an ontology of medically relevant phenotypes, disease-phenotype annotations, and the algorithms that operate on these.

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Mirum Pharmaceuticals is not affiliated with the resources listed above.

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.