Hyperlipoproteinemia type 3

This study tests two methods to increase referrals to a centralized pharmacy service for managing statin therapy in patients with or at high risk for heart disease. One method sends reminders to doctors during office visits, and the other sends electronic messages outside of visi…

This program provides evinacumab to children with homozygous familial hypercholesterolemia (HoFH) or severe high triglycerides when standard treatments don't work. The drug helps lower dangerous fat levels in the blood, but patients must keep taking it long-term to control their …

This study tests new vitamin and mineral supplements called EasiVits for children aged 1-16 with inborn errors of metabolism (IEM). These supplements have less carbohydrate and no flavor, so they can be used with different diets and kids can add their own taste. The goal is to se…

This study will collect and analyze genetic data from 1000 people with suspected inherited metabolic diseases, including conditions like epilepsy and mitochondrial disorders. Researchers at Karolinska University Hospital aim to improve diagnosis by using advanced genetic testing …

This study was designed to track how COVID-19 infection might worsen the condition of people with inherited metabolic diseases (IMD). Researchers planned to collect information from French patients with IMD who had or had COVID-19 to see how often their metabolic disease got wors…

This study checks how common high levels of lipoprotein(a) — a genetic risk factor for heart disease — are among hospital staff and their families. About 2800 participants will give blood samples and be followed over time to see if high levels lead to more heart problems. The goa…