“The medical need in PFIC is substantial,” said
PFIC is a severe, progressive, potentially life-threatening, ultra-rare liver disease characterized by pruritus (intense itching), jaundice (yellowing of the skin), and poor weight gain and growth. In many cases, people with PFIC progress to cirrhosis and liver failure by age 10. Children often undergo surgery to drain bile, liver transplant or both, which have significant risks and long-term challenges.
“It’s difficult to convey the full impact that a disease like PFIC can have on a family,” said
“Rare Disease Day is an opportunity to shed light on the massive challenges that people affected by rare diseases and their families face, and to ally with them in building awareness and understanding,” said
In recognition of Rare Disease Day, Albireo this month provided an unrestricted grant to the
Progressive familial intrahepatic cholestasis (PFIC) is a rare genetic disorder that is estimated to affect between one in every 50,000 to 100,000 children born worldwide and causes progressive, life-threatening liver disease. People diagnosed with PFIC have impaired bile flow, or cholestasis, caused by genetic mutations. The resulting bile build-up in liver cells causes liver disease and symptoms. The most prominent and problematic ongoing manifestation of the disease is pruritus (intense itching), which often results in a severely diminished quality of life. PFIC is also characterized by jaundice (yellowing of the skin), and poor weight gain and growth. In many cases, PFIC leads to cirrhosis and liver failure within the first 10 years of life, and nearly all people with PFIC require treatment before age 30. There are no medicines currently approved for PFIC, only surgical options, including a procedure known as partial external biliary diversion (PEBD), and liver transplantation. These options carry substantial risks. Additional information on PFIC is available at https://www.pfic.org.
About Rare Disease Day
Rare Disease Day is held on the last day of February every year to raise awareness of rare diseases. On this day, patient organizations and advocacy groups from countries and regions around the world hold awareness-raising activities focused on the theme set each year.
Albireo Pharma is a clinical-stage biopharmaceutical company focused through its operating subsidiary on the development of novel bile acid modulators to treat orphan pediatric liver diseases, and other liver and gastrointestinal diseases and disorders. Albireo’s lead product candidate, A4250, is being developed to treat rare pediatric cholestatic liver diseases and is in Phase 3 development in its initial target indication, progressive familial intrahepatic cholestasis. Albireo’s clinical pipeline also includes two Phase 2 product candidates. Albireo’s elobixibat, approved in Japan for the treatment of chronic constipation, is the first ileal bile acid transporter (IBAT) inhibitor approved anywhere in the world. Albireo was spun out from AstraZeneca in 2008.
Albireo Pharma is located in Boston, Massachusetts, and its key operating subsidiary is located in Gothenburg, Sweden. For more information on Albireo, please visit www.albireopharma.com.
Source: Albireo Pharma, Inc.