Fazirsiran is associated with a notable reduction in the concentration of Z-AAT, the most common form of alpha-1 antitrypsin (AAT) causing AAT deficiency (AATD), in the serum and liver as well as with improvements in the concentrations of liver enzymes, according to the results of a phase 2 clinical trial published in the New England…
Oral manifestations of Alagille syndrome, such as the greenish discoloration of the teeth, can be psychologically distressing to patients.
Germs and sicknesses became a real issue for me after our son who has Alagille syndrome (ALGS) had a liver transplant.
Patient survival and graft survival rates following liver transplantation are similar between patients with Alagille syndrome (ALGS) and those with biliary atresia, according to a new study published in the Journal of Pediatric Gastroenterology and Nutrition. This is the case despite higher congenital heart defect and cardiac intervention rates, creatinine levels, and model for end-stage…
Researchers identified a previously classified “idiopathic” gene that is responsible for neonatal/infantile cholestasis, including in patients with Alagille syndrome (ALGS), and presented their results at the 54th annual European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) meeting. The study credits advances in molecular genetics, particularly the use of next-generation sequencing in testing candidate genes…
Intraoperative revision of margins from frozen sections could increase overall survival (OS) in patients with perihilar cholangiocarcinoma (CCA), according to a study recently published in Annals of Surgical Oncology. “Achieving a margin-negative resection (R0) is challenging given the anatomic location of tumors and remains the most important prognostic indicator of long-term survival,” the authors wrote.…
Cannabidiol (CBD) and cannabigerol (CBG) have antitumor activity on cholangiocarcinoma (CCA) in vitro, according to a new study published in Biomolecules. The researchers found that each compound uses a distinct cell death pathway to inhibit CCA. “We found that both CBD and CBG were effective in inhibiting cholangiocarcinoma cells in vitro in a dose-dependent manner,…
Researchers from China identified methylated-differentially expressed genes and signaling pathways that are significantly associated with cholangiocarcinoma (CCA) using a series of bioinformatics databases and tools and published their findings in Medicine. They also found 2 genes MYC and VWF that are hub genes, which possess potential predictive and prognostic value and therefore could be used…
Researchers at Homology Medicines developed a capsid selection strategy that can allow the use of the best vector to develop gene therapies to treat different genetic diseases including lysosomal storage disorders such as lysosomal acid lipase deficiency (LAL-D). This approach, the researchers said allows them to “embrace a capsid selection rather than a ‘one-capsid-fits-all’ limitation…
Researchers identified a mechanism that may be responsible for the toxic gain of function of Z-AAT, the most common form of alpha-1 antitrypsin (AAT) causing AAT deficiency (AATD), and published their results in JCI Insights. “The findings of this study will contribute to elucidating more details in the pathogenesis of Z-AAT-associated lung diseases,” they wrote.…
