Alagille syndrome is a genetic disorder that can affect the liver, heart, and other parts of the body.
In more than 90 percent of cases, mutations in the JAG1 gene cause Alagille syndrome. Another 7 percent of individuals with Alagille syndrome have small deletions of genetic material on chromosome 20 that include the JAG1 gene. A few people with Alagille syndrome have mutations in a different gene, called NOTCH2. The JAG1 and NOTCH2 genes provide instructions for making proteins that fit together to trigger interactions called Notch signaling between neighboring cells during embryonic development. This signaling influences how the cells are used to build body structures in the developing embryo. Changes in either the JAG1 gene or NOTCH2 gene probably disrupt the Notch signaling pathway. As a result, errors may occur during development, especially affecting the bile ducts, heart, spinal column, and certain facial features.
The estimated prevalence of Alagille syndrome is 1 in 70,000 newborns. This figure is based on diagnoses of liver disease in infants, and may be an underestimation because some people with Alagille syndrome do not develop liver disease during infancy.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered or deleted gene in each cell is sufficient to cause the disorder.
Binita Kamath practices in Toronto, Canada. Kamath is rated as an Elite expert by MediFind in the treatment of Alagille Syndrome. She is also highly rated in 20 other conditions, according to our data. Her top areas of expertise are Alagille Syndrome, Cholestasis, Progressive Familial Intrahepatic Cholestasis Type 1, Liver Transplant, and Endoscopy.
Kathleen Loomes is a Pediatric Gastroenterologist and a Pediatrics expert in Philadelphia, Pennsylvania. Loomes is rated as an Elite expert by MediFind in the treatment of Alagille Syndrome. She is also highly rated in 9 other conditions, according to our data. Her top areas of expertise are Alagille Syndrome, Biliary Atresia, Cholestasis, Progressive Familial Intrahepatic Cholestasis Type 1, and Liver Transplant. Loomes is currently accepting new patients.
Benjamin Shneider is a Pediatric Gastroenterologist in Houston, Texas. Shneider has been practicing medicine for over 37 years and is rated as an Elite expert by MediFind in the treatment of Alagille Syndrome. He is also highly rated in 10 other conditions, according to our data. His top areas of expertise are Biliary Atresia, Alagille Syndrome, Cholestasis, Liver Transplant, and Endoscopy. Shneider is currently accepting new patients.
Summary: The main aim of the study is to check if TAK-625 improves symptoms of Alagille Syndrome (ALGS), side effect from the study treatment or TAK-625, and how much TAK-625 stays in their blood over time. This will help the study sponsor (Takeda) to work out the best dose to give people in the future. The participants will be treated with TAK-625 for up to the end of study (about 34 months). Participants...
Published Date: December 01, 2014Published By: National Institutes of Health