Patients with Alagille syndrome (ALGS) require many outpatient visits as well as long hospital stays, which contributes to a noteworthy health care resource utilization (HRU) burden, according to a recently published study in The Journal of Pediatrics. Although ALGS has a relatively low birth prevalence of approximately 1 in every 50,000 births, it is a complex…
Researchers presented a case report in the World Journal of Clinical Cases of a patient who had Alagille syndrome associated with total anomalous pulmonary venous connection (TAPVC) and severe xanthomas. The case report details a 20-day-old boy who was referred to the hospital for jaundice of an unknown cause since birth and TAPVC. He had…
A phase 3 study is being launched to examine TAK-625 for the treatment of Alagille syndrome (ALGS). The sponsor of this clinical trial is Takeda, who wrote, “The main aim of the study is to check if TAK-625 improves symptoms of ALGS, side effects from the study treatment or TAK-625, and how much TAK-625 stays in…
Researchers reported a case of an unusual focal choroidal excavation (FCE) with a macular hole in a patient with Alagille syndrome (ALGS). The case report noted that FCE is a relatively new disease entity with an unknown origin that has been increasingly reported in other retinochoroidal pathologies, but this is the first known case in…
The use of maralixibat in children with Alagille syndrome is associated with better health-related quality of life outcomes, researchers reported in a study published in The Journal of Pediatrics. Studies have demonstrated that children with this disease have much lower health-related quality of life scores than healthy age-matched individuals. One of the more unpleasant symptoms…
A number of serum biomarkers were investigated for their ability to predict liver stiffness in pediatric cholestatic liver diseases including alpha-1 antitrypsin deficiency (AATD), Alagille syndrome (ALGS), and biliary atresia (BA). According to a study published in Hepatology, connective tissue growth factor (CTGF) was negatively correlated with liver stiffness measurements (R =-.38; P =.01) in…
Researchers from the US and Spain have developed novel patient- and observer-reported outcome questionnaires to evaluate the effects of cholestatic pruritus in children with cholestatic liver diseases such as Alagille syndrome and progressive familial intrahepatic cholestasis. The new questionnaires, which the researchers called PRUCISION, can be useful in understanding the effect of new treatments on…
Researchers presented the case of a patient who developed progressive hepatic failure as a result of a unique pathogenic heterozygous variation of the NOTCH2 gene, resulting in a diagnosis of type 2 Alagille syndrome, according to a study published in the American Journal of Case Reports. When infants present with cholestasis, there are more than…
Researchers have identified important protein biomarkers that are useful in discerning mitochondrial hepatopathies from other liver diseases, such as Alagille syndrome, according to an abstract presented at the 2022 Society for the Study of Inborn Errors of Metabolism (SSIEM) Annual Symposium: Genetics Meets Environment. “Mitochondrial hepatopathies are primary mitochondrial genetic disorders that present as acute…
Surgically treating peripheral pulmonary artery stenosis reduces right ventricular pressure by 70%, according to a new study published in The Journal of Thoracic and Cardiovascular Surgery. Treatment also led to freedom from death in 94% of cases and the maintenance of low pressure in 90% of cases after 3 years. “These results suggest that the…
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