New Development Deal Struck for Experimental Alagille Syndrome Treatment

According to a story from, the drug developer Mirum Pharmaceuticals recently announced that is has entered an agreement with Shire which grants exclusive rights for marketing and development of the experimental drug maralixibat. This therapy is being developed for the treatment of Alagille syndrome, a rare genetic disease. There are also plans to test this drug against other rare liver diseases.

About Alagille Syndrome

Alagille syndrome is a rare genetic disorder that has impacts on a variety of organs, including the kidneys, liver, and heart. Signs and symptoms become noticeable early in life. It can vary widely in severity, and may hardly produce symptoms in some cases. The syndrome is caused by mutations of the JAG1 or NOTCH2 genes. Symptoms include jaundice, cholesterol deposits on the skin, itching, pale stools, numerous heart defects, butterfly shaped bones on the spine, eye defects, and narrowed pulmonary arteries. Treatment includes several medications to improve bile flow and surgery to repair heart defects. In the most severe cases, a liver transplant may be necessary. Prompt treatment is paramount upon diagnosis of Alagille syndrome. In some cases, if left untreated, the complications of the syndrome can be fatal. There is serious need for more treatment options for this disease. To learn more about Alagille syndrome, click here.

Maralixibat Research

Interim data from the recent Phase IIb study of maralixibat suggests that the investigational product could be an effective approach for Alagille syndrome. Patients using the drug saw reductions in manifestations associated with the disorder, such as pruritus and bile acids. In another Phase II open label study, patients with progressive intrahepatic familial cholestasis type 2 also responded successfully to maralixibat, suggesting its potential in treating other liver diseases. The results from this study earned maralixibat Breakthrough Therapy designation from the US Food and Drug Administration.

These two diseases first appear in childhood, so the participants in these trials were mostly children. However, there are plans to test maralixibat against liver disease in adults as well. The drug has been administered to a total of 230 patients so far, and appears to be quite safe, with common side effects including abdominal pain, vomiting, and diarrhea. 

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