Alagille Syndrome News and Research

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Alagille Syndrome is a rare inherited liver disorder seen in infants and young children. The disease is characterized by a buildup of bile in the liver due to a deficiency or absence of normal bile ducts inside the liver and a narrowing of bile ducts outside the liver. Symptoms of the disorder can include jaundice, stunted growth, fatty deposits in the skin, facial deformities, and abnormalities in the heart, eyes, vertebrae, and kidneys.

SickKids study offers new path for pediatric rare disease clinical trials

Using a novel methodology, researchers at The Hospital for Sick Children (SickKids) are the first in pediatric research to use data from an international real-world cohort to overcome the barriers associated with conducting randomized clinical trials in children with rare diseases.

29 Feb 2024

DNA origami used to unveil novel Notch receptor activation pathway

Researchers at Karolinska Institutet in Sweden have used DNA origami, the art of folding DNA into desired structures, to show how an important cell receptor can be activated in a previously unknown way.

18 Jan 2024

Incurable liver disease could be reversed with a single drug

Research led by Associate Professor Duc Dong, Ph.D., has shown for the first time that the effects of Alagille syndrome, an incurable genetic disorder that affects the liver, could be reversed with a single drug.

4 Jan 2023

New source of stem cells could help treat people with Alagille syndrome

Researchers from Sanford Burnham Prebys have discovered a new source of stem cells just outside the liver that could help treat people living with Alagille syndrome, a rare, incurable genetic disorder in which the bile ducts of the liver are absent, leading to severe liver damage and death.

12 Oct 2021

Deletion of an embryonic gene in liver cells completely wipes out bile ducts of newborn mice

Scientists from the University of Pittsburgh School of Medicine described a new phenomenon in which the deletion of a single gene involved in liver embryogenesis completely wipes out bile ducts of newborn mice.

6 Jul 2021

SOX9 broadly modifies the severity of Alagille syndrome liver disease in mice

Alagille syndrome is a rare pediatric genetic disorder that can affect the liver, heart, kidneys, blood vessels, skeleton and other tissues.

11 Oct 2019

Scientists highlight advances and uses of organoids in gastroenterology and hepatology

One of the most exciting advancements in stem cell research has been the development of organoid systems, which are organ-like three-dimensional structures that mimic their corresponding organ in vivo.

4 Jun 2019

Study reveals molecular mechanisms underlying expansive arterial remodeling

Expansive arterial remodeling comprises a genetically programmed biological response designed to restore homeostatic levels of arterial wall stress after an increase in vessel flow load occurs.

25 Aug 2018

Scientists discover mechanism behind unusual form of tissue regeneration in the liver

By studying a rare liver disease called Alagille syndrome, scientists from Cincinnati Children's and the University of California San Francisco (UCSF) have discovered the mechanism behind an unusual form of tissue regeneration that may someday reduce the need for expensive and difficult-to-obtain organ transplants.

3 May 2018

Liver disease in children with Alagille Syndrome caused by malformations of bile ducts

Serious liver and heart problems can affect children with Alagille Syndrome early in life. While there is as yet no cure, researchers at Karolinska Institutet in Sweden have discovered that the liver disease part of the syndrome is caused by specific malformations of the bile ducts.

21 Nov 2017

Jaw malformations in zebrafish could provide clues about hearing loss in mice and humans

Can a fish with a malformed jaw tell us something about hearing loss in mice and humans? The answer is yes, according to a new publication in Scientific Reports.

31 May 2017

UConn-led researchers identify specific gene linked to Hajdu-Cheney syndrome

Fragile bones are usually an old person's affliction, but sometimes children are born with them. Now, a team of researchers led by UConn professor Ernesto Canalis has shown in mice that a specific gene can cause the disease, called Hajdu-Cheney syndrome. Overabundant bone-absorbing cells may be causing the disorder's characteristic bone loss, and the researchers hope to find a potential treatment.

18 Jan 2016

Researchers develop new technology to track DNA-protein binding in live cells

Researchers have developed a new technology that precisely marks where groups of regulatory proteins called transcription factors bind DNA in the nuclei of live cells.

7 Aug 2015

Phase 2 IMAGO trial of SHP625 fails to meet primary endpoints in pediatric patients with ALGS

Shire plc today announced that the 13-week Phase 2 IMAGO trial of its investigational compound SHP625 (LUM001) did not meet the primary or secondary endpoints in the study of 20 pediatric patients with Alagille syndrome (ALGS), a rare, life-threatening genetic disorder that presents with chronic cholestasis (accumulation of bile acids in the liver) and severe pruritus (itching).

9 Apr 2015

Dr. Hans Clevers receives ISSCR's McEwen Award for Innovation

The International Society for Stem Cell Research has awarded Dr. Hans Clevers, senior author on two important papers published recently in the scientific journal Cell, the society's McEwen Award for Innovation.

23 Jan 2015

Lumena Pharmaceuticals initiates LUM001 clinical program in children with ALGS

Lumena Pharmaceuticals, a company developing oral therapeutics for rare liver diseases, today announced the initiation of a global clinical program to evaluate its drug candidate LUM001 in children with Alagille syndrome. The first patient has been dosed in the IMAGO Phase II study being conducted in the U.K., and enrollment of pediatric patients is expected to begin later this year in the ITCH Phase II study in the U.S.

26 Sep 2013

New study reveals another duet played by Notch and BMP signals

A small ensemble of musicians can produce an infinite number of melodies, harmonies and rhythms. So too, do a handful of workhorse signaling pathways that interact to construct multiple structures that comprise the vertebrate body.

15 May 2013

Link between Jagged-1 protein and bone formation

Researchers from the University of Pennsylvania School of Veterinary Medicine have discovered that a protein called Jagged-1 stimulates human stem cells to differentiate into bone-producing cells.

14 Feb 2013

EMA COMP issues positive opinion to Albireo for A4250

Albireo AB, a biopharmaceutical company specializing in gastroenterology, today announced that the European Medicines Agency Committee for Orphan Medicinal Products (COMP) has issued a positive opinion on an application for orphan medicinal product status for the company's lead hepatology candidate, A4250.

25 Jul 2012

Embryonic signalling pathways suggest a new therapeutic approach to recover from heart attack

Almost a century after it was discovered in fruit flies with notches in their wings, the Notch signalling pathway may come to play an important role in the recovery from heart attacks. In a study published today in Circulation Research, scientists at the European Molecular Biology Laboratory (EMBL) in Monterotondo, Italy, are the first to prove that this signalling pathway targets heart muscle cells and thus reveal its crucial role in heart development and repair

10 Dec 2009