Experimental Alagille Syndrome Treatment Gets Orphan Drug Designation

According to a story from BioSpace, the orphan liver disease drug company Albireo Pharma recently announced that its investigational product A4250 was granted Orphan Drug designation by the US Food and Drug Administration (FDA). The designation was granted for treating the rare liver disease Alagille syndrome, a life-threatening disease that currently has no FDA approved treatment options.

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.

About Orphan Drug Designation

Orphan Drug designation is typically reserved for drugs that are intended to treat a disease that is considered rare, which is defined as any disease that affects 200,000 people or less in the US. In order to earn this designation, the drug must display substantial advantages in effectiveness or safety in comparison to currently available treatments. Alternatively, it must offer a potential treatment for a medical need that is currently unmet. Orphan Drug designation confers several benefits for the recipient company, such as tax breaks, a seven year period of market exclusivity of the drug gains approval, and the waiving of certain fees.


A4250 is notable for having only mild systemic exposure, and most of its activity takes place in the digestive tract. This is not the first time that this experimental drug has received Orphan Drug designation. It has also received it from both the European Medicines Agency (EMA) and the FDA for treating the rare disease known as progressive intrahepatic cholestatsis.

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