Researchers identified 3 transcription factors that are upstream of JAGGED1, an important protein for liver development and physiology, and published their findings in BMC Research Notes. This is an important finding because in diseases like Alagille syndrome (ALGS), where there is a mutation in the gene coding for JAGGED1 in most cases, bile ducts do…
The TAZ protein may play a role in metabolic adaptations to chronic cholestasis and may be important in Alagille syndrome (ALGS), according to a new study published in the FASED Journal. This may have potential implications for the clinical regulation of hypercholesterolemia and long-term liver health. TAZ is a paralog of Yes-associated protein 1 (YAP1),…
Albireo Pharma announced in a news release that their phase 3 ASSERT study of odevixibat (Bylvay™) in patients with Alagille syndrome (ALGS) is fully enrolled and initial results are expected by the end of the year. They also announced that the commercial launch of odevixibat in the United States, Germany, and the United Kingdom is…
Unique variants in the NOTCH2 gene not included in the Genome Aggregation Database (gnomAD) may be responsible for causing Alagille syndrome (ALGS), according to a study recently published in Liver International. “All NOTCH2 [nonsense-mediated mRNA decay] variants found in gnomAD were not detected in known ALGS patients. And all disease-causing NOTCH2 variants identified in ALGS…
Patients with Alagille syndrome (ALGS) characteristically have developmental disorders in numerous organs, including the heart. In a novel case report, an 8-year-old girl with ALGS was unexpectedly diagnosed with left coronary ostial occlusion, which is not among the expected cardiac manifestations of this disease, according to the study published in Pediatrics International. The patient, who…
Patients with Alagille syndrome (ALGS) with higher levels of the poly-hydroxylated bile acids tauro-2β,3α,7α,12α-tetrahydroxylated bile acid (THBA) and glyco-hyocholic acid (GHCA) had a better prognosis than those with lower concentrations, according to a study currently under review in Hepatology International. The researchers found that the levels of tauro‐2β,3α,7α,12α-THBA (P =.013), and GHCA (P =.036) were…
Multicenter databases as contextual comparators to current clinical trials may be advantageous in Alagille syndrome (ALGS) and other rare diseases, according to a new study published in Hepatology Communications. The investigation led by Shneider analyzed a prospective longitudinal cohort of children with cholestasis (LOGIC NCT00571272) that met the inclusion and exclusion criteria from a maralixibat…
Researchers reported the case of a patient with Alagille syndrome (ALGS) who underwent stenting for severe pulmonary stenosis and received a deceased donor liver transplantation, as published in the International Journal of Surgery. Large-for-size syndrome is a potentially devastating complication of liver transplantation. It is usually reported among pediatric patients and surgeons who often reduce…
Researchers recently discovered that spontaneous operational tolerance in liver transplants in the pediatric population with conditions like Alagille syndrome (ALGS) is not a permanent state, as published in Liver Transplantation. Therefore, it is essential for patients who are clinically stable off immunosuppression to undergo regular follow-up and laboratory monitoring and surveillance biopsies to rule out…
Read about the epidemiology of Alagille syndrome (ALGS) in our ALGS resources for health care providers.
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