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More than 90 percent of children with Alagille syndrome have an unusual abnormality of the eyes.
Many physicians believe that there is a specific facial appearance shared by most of the children with Alagille syndrome that makes them easily recognizable.
Alagille syndrome is generally inherited only from one parent and there is a 50 per cent chance that each child will develop the syndrome.
Treatment of Alagille syndrome is based on trying to increase the flow of bile from the liver, maintain normal growth and development and prevent or corre ct any of the specific nutritional deficiencies that often develop.
Alagille Syndrome meant Leo's body could not produce the hormone youngsters rely on to grow.
Catherine Arkley, chief executive of Children's Liver Disease Foundation, said: "Children affected by Alagille syndrome often have short stature.
Food & Drug Administration (FDA) Office of Orphan Product Development in four rare cholestatic liver diseases including primary biliary cirrhosis ; progressive familial intrahepatic cholestasis ; Alagille syndrome ; and primary sclerosing cholangitis.
The company has also initiated a global clinical program to study LUM001 in children with Alagille syndrome and will initiate Phase II studies in patients with progressive familial intrahepatic cholestasis, and primary sclerosing cholangitis in late 2013.
LUM001 represents a potential new approach to treating the progressive liver damage and symptoms associated with Alagille syndrome that severely affect a patient's quality of life," explained Benjamin Shneider, M.
I think that I can speak on behalf of the Alagille syndrome community when I say that we enthusiastically support Lumena's work to develop safe, oral therapies to treat Alagille syndrome, and I am especially glad that the company is planning an extension study that allows for patients to have long-term access to this treatment while it is in development," said Cindy Hahn, founder and CEO of the Alagille Syndrome Alliance.
While Alagille syndrome is relatively rare, organ diseases are not rare, and our findings suggest that genes on this biological pathway may have a broader role in kidney disorders," said study leader Nancy B.
Miss Lam wrote about the current and potential future applications of human genetics, while Hahn's essay focused on a rare genetic condition called Alagille Syndrome (AGS), which causes abnormal development of many organs in the body such as the liver, heart and kidneys.
He is a consultant to organizations such as the American Liver Foundation, Parents of Kids with Infectious Diseases, the Alagille Syndrome Alliance, Studies of Pediatric Liver Transplantation (SPLIT), the Centers for Disease Control and Prevention (CDC) and the National Institute of Health (NIH).