This study, called the LCAT Natural History Study, aims to better understand LCAT deficiency. Researchers will collect information from people with a genetic change in the LCAT gene. They will gather past medical records, including lab tests, physical exams, imaging of kidneys and heart, eye exams, and treatments you've received. This will help doctors learn more about how LCAT deficiency progresses over time and how it affects different parts of the body. The study plans to enroll 40 participants of any age and gender who have a diagnosis of LCAT deficiency or a confirmed LCAT gene mutation. Success for this study means reaching 40 patients and understanding the average age of diagnosis and how long it takes to develop chronic kidney disease (CKD). The current recruitment status is unclear.

Study design

This is an observational study, meaning researchers will collect information without providing new treatments. It aims to enroll 40 participants.

What's involved

The study will collect extensive historical health data from your previous clinical visits and conduct a thorough characterization of your disease progression at the start.

Compensation

Not stated in the trial record.

Follow-up

The primary endpoints, such as reaching 40 patients, mean age of diagnosis, and average time to develop CKD, will be measured through study completion, an average of 4 years.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.