Frequently asked questions about SLOS, treatment, and more


SLOS

What is Smith-Lemli-Opitz Syndrome (SLOS)?

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.

What are bile acids, and why are they important?

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.

How is SLOS treated?

Currently, there is no cure for patients with SLOS. However, there are ways to help support your child and manage his or her 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® (cholic acid) capsules is an adjunctive, replacement therapy that prevents 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 clinical trials.

About CHOLBAM

What is CHOLBAM (cholic acid) capsules?

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.

 

How is CHOLBAM taken?

CHOLBAM is taken by mouth each day. It is recommended to take CHOLBAM with food. Do not crush or chew capsules. If your child or 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.

 

How to access CHOLBAM?

Getting CHOLBAM is simple through Mirum Access Plus. Download the enrollment form today and talk to your doctor about getting started.

 

How is CHOLBAM administered?

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.

 

Which doctor should I discuss CHOLBAM with?

Your geneticist, pediatrician, or gastroenterologist will be the most likely doctor to understand how CHOLBAM therapy works in patients with SLOS. If you are not routinely seeing one of these specialists, feel free to talk to any doctor you see frequently .

 

Can I get CHOLBAM at a local pharmacy?

CHOLBAM is not dispensed at retail pharmacies. CHOLBAM can only be distributed from the Mirum Access Plus pharmacy via Mirum Access Plus. When you 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.

 

Is CHOLBAM safe?

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.

CHOLBAM patients will need to undergo laboratory testing periodically while on treatment to assess liver function. CHOLBAM may worsen liver function. Call your doctor right away if there is:

  • 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 doctor.


Why is it important to take CHOLBAM every day?

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 doctor.


How often should people taking CHOLBAM see their doctor?

People taking CHOLBAM should see their doctor regularly to be sure CHOLBAM is working properly. Your child’s or 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. The 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.


Why does the dosage change?

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.

Patient Support

What is Mirum Access Plus?

Mirum Access Plus is a support program for patients who have been prescribed CHOLBAM® (cholic acid) capsules and their caregivers.

 

What does Mirum Access Plus offer?

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.

 

Do I have to be enrolled in Mirum Access Plus to receive CHOLBAM?

In order to receive CHOLBAM, your child or loved one needs to enroll in Mirum Access Plus. This allows us to verify your child’s or loved one’s insurance, see if you 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 through 8:00 PM ET.

 

What financial support does Mirum Access Plus provide?

A Mirum Access Plus Coordinator will work closely with your doctor’s office and insurance plan to manage the process for you. If you need assistance paying for your medicine, a Mirum Access Plus Coordinator will share financial support options for which you may be eligible. 

 

What if I can’t afford CHOLBAM?

If you need assistance paying for your medicine, a Mirum Access Plus Coordinator will share financial support options for which you may be eligible.

For any questions about financial assistance, call 1-855-MRM-4YOU (1-855-676-4968), Monday through Friday, 8:00 AM through 8:00 PM ET.

 

Besides financial support, what else does Mirum Access Plus offer?

Once your prescription is approved, a full-service pharmacy will ship the medicine straight to your doorstep overnight. The Mirum Access Plus pharmacy will contact you with refill reminders and assist you 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 may have about CHOLBAM. When you 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.

 

Can I get CHOLBAM delivered to my house?

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.

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.