Rare disease study seeks to unlock secrets of LCAT deficiency

This study is not testing a new treatment. Instead, it aims to collect health information from 40 people with LCAT deficiency, a rare genetic disorder that affects cholesterol and kidney function. Researchers will review medical records, perform blood and urine tests, and track how the disease progresses over time. The goal is to better understand the condition and find biomarkers that could help in future research.