Global Observational Registry for Patients With Lysosomal Acid Lipase Deficiency to Improve Understanding and Treatment

What this Trial Is About

This research aims to collect detailed, long-term information about patients with Lysosomal Acid Lipase LAL Deficiency, a rare genetic disorder caused by a deficiency of the enzyme responsible for breaking down certain fats in the body. The condition can present as a severe and rapidly progressing disease in infants or a more chronic illness in children and adults, affecting the liver, spleen, and lipid levels, and leading to serious health complications including liver damage and cardiovascular risks. The study focuses on understanding the diseases natural history and variability to improve patient care worldwide. This is an observational, multi-center, international disease registry where patients diagnosed with LAL Deficiency, regardless of their treatment status, are followed over time. The registry collects real-world data to evaluate the long-term outcomes and effectiveness of treatments including sebelipase alfa. Participation is voluntary for both patients and physicians, and the study includes patients living with the disease as well as those deceased. Participants contribute data through their regular medical care and follow-up visits, with researchers gathering information about disease progression, treatment responses, and clinical outcomes. The primary goal is to enhance knowledge about LAL Deficiency by monitoring varied patient experiences and health changes over time. The study is ongoing and aims to support clinical practice and regulatory commitments related to sebelipase alfa therapy. The total duration of participation varies based on ongoing data collection.

Lysosomal Acid Lipase (LAL) Deficiency Registry