A rare disease that affects the body’s cholesterol levels
Smith-Lemli-Opitz Syndrome (SLOS) is a rare, genetic condition caused by a mutation in the 7-dehydrocholesterol reductase (DHCR7) gene that helps the body to produce cholesterol. Patients with SLOS are unable to make sufficient amounts of cholesterol, an essential nutrient for proper growth and development. SLOS occurs in about 1 of every 20,000 live births.
What happens if the body cannot make cholesterol?
Low levels of cholesterol may lead to poor nutrition and poor growth.
Because cholesterol is also necessary for production of bile acids in the liver, it is likely that low cholesterol levels in SLOS impair bile acids from being made.
Bile acids help digest dietary cholesterol from the intestine. Low bile acid levels likely prevent dietary cholesterol from being absorbed properly and contribute to the cholesterol deficiency seen in SLOS.
In addition to low cholesterol absorption that can delay growth and development, some patients may experience elevated or abnormal liver function levels, such as AST and ALT, which are important measurements of liver health.
The addition of CHOLBAM® (cholic acid) might help address these key issues.*
*No evaluable patients with SLOS were represented in clinical trials.
ALT, alanine aminotransferase; AST, aspartate aminotransferase.
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.