Plasma protein metabolism disease

This study tests whether adding the drug vorinostat to standard care can prevent graft-versus-host disease (GVHD) in children and young adults (ages 1-26) with non-cancerous blood disorders who are getting a bone marrow transplant. GVHD is a serious complication where donor cells…

This study tests whether higher doses of the drug Respreeza/Zemaira can slow lung damage better than the standard dose in adults with emphysema caused by Alpha-1 antitrypsin deficiency. About 270 participants will receive weekly IV infusions for 3 years. The goal is to find the o…

This trial will test an artificial intelligence system designed to interpret routine newborn screening tests for inherited metabolic disorders. Researchers will compare the AI's accuracy to standard manual review by trained staff. The study plans to include 200,000 newborns in Ch…

This study follows 45 adults with alpha-1 antitrypsin deficiency (a genetic condition that can cause liver damage) to learn how the disease progresses. Researchers will analyze stored blood and liver tissue samples to find biomarkers and understand the molecular pathways involved…

This study aims to find out how often a rare genetic condition called alpha-1 antitrypsin deficiency (AATD) occurs in people who develop liver cancer (hepatocellular carcinoma) but do not have cirrhosis or other known causes like hepatitis or heavy drinking. Researchers will look…

This 10-year observational study will follow 10,000 adults with diabetes, metabolic disorders, and related conditions like high blood pressure and fatty liver disease. Researchers will collect routine medical data to identify markers of disease severity and activity. The goal is …