About 393 results

ALLMedicine™ Alagille Syndrome Center

Research & Reviews  147 results

Alagille Syndrome: A Focused Review on Clinical Features, Genetics, and Treatment.
Seminars in Liver Disease; Kohut TJ, Gilbert MA et. al.

Jul 3rd, 2021 - Alagille syndrome (ALGS) is an autosomal dominant disorder caused by pathogenic variants in JAG1 or NOTCH2, which encode fundamental components of the Notch signaling pathway. Clinical features span multiple organ systems including hepatic, cardia...

Alagille syndrome: Oral manifestations-A case report.
Special Care in Dentistry : Official Publication of the A... Anacleto MA, Melo CFR et. al.

Jul 3rd, 2021 - The Alagille syndrome (AGLS) is a rare condition, with few studies reported in the literature, especially in the field of dentistry. It consists of a disease involving many systemic problems and specific facial features. The liver and heart are th...

Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille Syndrome.
Investigative Ophthalmology & Visual Science; da Palma MM, Igelman AD et. al.

Jun 30th, 2021 - The purpose of this study was to characterize the phenotypic spectrum of ophthalmic findings in patients with Alagille syndrome. We conducted a retrospective, observational, multicenter, study on 46 eyes of 23 subjects with Alagille syndrome. We r...

The morphological and histopathological assessment of Alagille syndrome with extrahepat...
https://doi.org/10.1007/s00383-021-04932-z 10.1111/apa.13981 10.1007/s00383-018-4316-3 10.1097/MPG.0000000000000563 10.1097/MPG.0b013e3181f1572d 10.1097/MPG.0b013e3181df5fd8 10.1016/j.jpedsurg.2019.04.022 10.1007/s00383-019-04553-7 10.1016/j.jpedsurg.2019.08.028 10.1002/hep.510290331 10.1016/j.jpedsurg.2020.01.027 10.3390/biom9100608 10.1016/j.jpedsurg.2015.08.040 10.1016/j.jhep.2018.01.005
Pediatric Surgery International; Takeda M, Sakamoto S et. al.

Jun 3rd, 2021 - The differential diagnosis between Alagille syndrome (AGS) with extrahepatic bile duct obstruction (EHBDO) and biliary atresia (BA) is difficult. We report a case series of AGS with EHBDO with detailed validation of the morphological and histopath...

Concomitant congenital CMV infection and inherited liver diseases.
European Journal of Medical Genetics; Swed-Tobia R, Kassis I et. al.

May 24th, 2021 - Inherited liver diseases may present in infancy as cholestatic jaundice progressing to severe hepatic dysfunction. Congenital cytomegalovirus (cCMV) infection may initially involve the liver, yet in otherwise healthy hosts rarely leads to long-ter...

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Clinicaltrials.gov  4 results

Safety and Efficacy Study of LUM001 With a Drug Withdrawal Period in Participants With Alagille Syndrome (ALGS)

Sep 21st, 2018 - The study is divided into 6 parts: a 6-week open-label, dose escalation period, a 12-week open-label stable dosing period, a 4-week randomized, double-blind, placebo-controlled drug withdrawal period, a 26-week long-term stable dosing period, and ...

Evaluation of LUM001 in the Reduction of Pruritus in Alagille Syndrome

Jan 23rd, 2018 - The study is a randomized, double-blind, placebo-controlled study in children with Alagille Syndrome (ALGS). The study will investigate the effects of LUM001, compared to placebo, on pruritus, serum bile acids, liver enzymes, and other biochemical...

An Extension Study to Evaluate the Long-Term Safety and Durability of Effect of LUM001 in the Treatment of Cholestatic Liver Disease in Subjects With Alagille Syndrome (ALGS)

Jan 23rd, 2017 - The purpose of this extension study is to determine the long-term safety and tolerability of an investigational treatment (LUM001) in children with ALGS who have completed participation in the LUM001-302 study.

Positional Cloning of the Gene(s) Responsible for Alagille Syndrome

Mar 4th, 2008 - The goal of the project is to identify and clone the gene(s) responsible for the Alagille Syndrome (AGS) by a positional cloning approach. The first step towards this goal is to define the smallest genomic candidate region for AGS at 20p12 and to ...

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News  4 results

Progress in Fatty Liver and Pediatric Liver Disease

Oct 11th, 2017 - WASHINGTON, DC — Advances in the treatment of nonalcoholic steatohepatitis (NASH) — including results from a phase 2 trial of a liver-targeted selective inhibitor of acetyl-CoA carboxylase — will be in the spotlight here at The Liver Meeting 2017:...

Progress in Fatty Liver and Pediatric Liver Disease

Oct 11th, 2017 - WASHINGTON, DC — Advances in the treatment of nonalcoholic steatohepatitis (NASH) — including results from a phase 2 trial of a liver-targeted selective inhibitor of acetyl-CoA carboxylase — will be in the spotlight here at The Liver Meeting 2017:...

Progress Noted in Treatment of Several Common Liver Diseases

Apr 8th, 2016 - Intrahepatic Cholestasis Neonatal cholestasis results from a heterogeneous group of intrahepatic disorders caused by mutations in several genes.[28] Recent advances in the understanding of the molecular basis of genetic cholestatic syndromes, such...


Oct 5th, 2005 - Discussion Congenital biliary atresia manifests in the early neonatal period as jaundice. The disease, which represents congenital fibrosis of the extrahepatic biliary system, is divided into multiple types, depending on the location of the atresi...

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Patient Education  2 results see all →