In many rare conditions, early diagnosis and treatment typically correspond with better outcomes. Prior to March 2023, LIVMARLI (maralixibat) was approved for the treatment of cholestatic pruritus related to Alagille syndrome in those ages 1 and up. Cholestatic pruritus is intense itchiness caused by a buildup of bile acids in the body. According to EMPR, the FDA recently expanded the drug’s approval. Now LIVMARLI will be available for children as young as 3 months old. This will allow earlier access to treatment and help reach patients at the onset of their rare journey.
Researchers evaluated the safety, efficacy, and tolerability of LIVMARLI in this patient population in the RISE study. They found that LIVMARLI helped reduce symptoms and lower bile acid accumulation. While safe and well-tolerated, some side effects did occur. These include nausea and vomiting, fat-soluble vitamin deficiency, diarrhea, abdominal pain, gastrointestinal bleeding, and bone fractures.
A Brief Overview of LIVMARLI
As the LIVMARLI website explains LIVMARLI:
targets and temporarily blocks something in your body called the ileal bile acid transporter (IBAT). In doing so, LIVMARLI lowers bile acids in the body by interrupting bile acids from going back into the liver and increasing the amount of bile acids that are removed from the body in feces.
If you need assistance with LIVMARLI and your insurance, Mirum Access Plus can help.
What is Alagille Syndrome?
JAG1 or NOTCH2 gene mutations cause Alagille syndrome, a rare multisystem genetic disorder. Alagille syndrome may impact the liver, kidneys, heart, skeleton, and eyes (although symptoms and presentation may differ vastly from person to person). One of the major features of Alagille syndrome is liver disease. This is because, in Alagille syndrome, bile does not flow properly through the liver; many people have lowered numbers of bile ducts. As bile builds up, it causes intense itchiness and liver damage. Additional symptoms or characteristics of this disorder may include:
- Cholestasis (impaired bile flow)
- Jaundice (yellowing of the skin, eyes, and mucous membranes)
- Failure to thrive
- Loose, pale stools and dark urine
- Xanthomas (fatty bumps) under the skin
- Short stature
- Heart murmur
- Pulmonary stenosis
- Enlarged liver and/or spleen
- Deeply-set and widely-spaced eyes, a pointed chin, and a broad forehead