Best of 2023: Alagille syndrome
Revolutionizing ALGS Research: GALA Study Unveils Global Insights into Rare Disease
In this exclusive interview with Rare Disease 360®, we delve into the groundbreaking GALA Study, a global initiative focused on understanding and addressing Alagille syndrome (ALGS). Spearheaded by Dr. Binita Kamath and Shannon Vandriel from the Hospital for Sick Children in Toronto, this study aims to provide a comprehensive perspective on ALGS by collecting clinical, genetic, and laboratory data from a diverse range of patients worldwide. The GALA Study represents a significant advancement in rare disease research, transcending traditional patient registries and shedding light on a condition that affects multiple organ systems. Through collaboration with over a hundred investigators from 38 countries, the study offers a unique opportunity to glean insights into this complex and heterogeneous disorder.
Is there a heightened risk of HCC among patients with ALGS?
Liver disease severity does not need to be present for hepatocellular carcinoma (HCC) onset in patients with Alagille syndrome (ALGS), according to researchers who suggest a more targeted cancer screening protocol for patients with ALGS.
TS Alliance Advocates for Prioritization of Rare Disease Patients and Caregivers for COVID-19 Vaccines
In partnership with more than 70 advocacy groups, healthcare providers, and biotech companies, the Tuberous Sclerosis Alliance (TS Alliance), an internationally recognized nonprofit that raises awareness and funds to fight the rare genetic disease tuberous sclerosis complex (TSC), recently issued a letter to the National Governors Association that calls on states to immediately prioritize Americans with life-threatening rare diseases in their COVID-19 vaccine rollouts.
Serum bile acid levels may be beneficial in evaluating ileal bile acid transporter inhibitors
According to a new study, serum bile acid levels may be the gold standard when assessing new therapies, including ileal bile acid transporter inhibitors (IBATi), in diseases such as bile salt export pump (ABCB11) deficiency, which causes Progressive familial intrahepatic cholestasis (PFIC2).