Frequently
Asked Questions

SLOS results from an autosomal recessive mutation on the 7-dehydrocholesterol reductase (DHCR7) gene involved in cholesterol production and disrupts the body’s ability to make cholesterol.

In patients with SLOS:

• Low levels of cholesterol are produced and absorbed by the body
• Because bile acids are made from cholesterol, a person with SLOS with very low cholesterol levels cannot make a sufficient amount of bile acids, potentially leading to a bile acid deficiency
• Without sufficient bile acids present, patients cannot properly absorb cholesterol and other nutrients

Low levels of cholesterol production and absorption may ultimately lead to poor nutrition and poor growth.

Bile acids are essential for the absorption of fats and fat-soluble vitamins and nutrients in the intestines. Without sufficient bile acids present, patients cannot properly absorb cholesterol and other nutrients.

Also, 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.

Two key bile acids necessary for proper digestion, absorption, and toxin removal are:

• Cholic acid
• Chenodeoxycholic acid

Abnormal bile flow or production can result in:

• Poor absorption of vital nutrients, which may lead to poor nutrition and growth
• Accumulation of toxic materials in the body

Currently, there is no cure for patients with SLOS. However, there are ways to help support and manage their symptoms. Current treatments can help with symptoms and do not cure the disease. SLOS is caused by a defect in one of the genes involved in cholesterol production. Bile acids are not made correctly in patients with SLOS, and bile acid replacement therapy may help people with SLOS by increasing their cholesterol levels and cholesterol absorption, lowering their liver enzymes, and may even increase their height and weight.

CHOLBAM capsules is an adjunctive, replacement therapy that may help prevent the buildup of abnormal bile acids that occur in patients who have liver involvement in SLOS.* Learn about treating SLOS.

*No evaluable patients with SLOS were represented in pivotal clinical trials.

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 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 or your loved one’s doctor for instructions on how to take CHOLBAM. CHOLBAM is available in 50-mg and 250-mg capsules.

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 1% of patients.

CHOLBAM patients 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.