Lysosomal Acid Lipase (LAL) Deficiency Registry

To be part of this registry, you must have received a clear diagnosis from your doctor that confirms you have LAL Deficiency. Before you can officially join, you'll need to give your informed consent. This means a doctor or nurse will explain the study in detail, and you'll say yes (or your parent/guardian will say yes for you) to sharing your health information. This is a common and important step in all similar health registries to make sure you fully understand what's involved.

Another important point is that if you're currently taking part in a different clinical trial sponsored by a company called Alexion, you won't be able to join this registry at the same time. However, if you've already finished participating in an Alexion trial involving the medicine sebelipase alfa, you are welcome to join this registry. Also, being part of this registry won't stop you from joining another clinical trial in the future if you choose to.

This is an observational study, which means you won't be given any new medicines or treatments as part of the registry itself. Instead, your medical information will be collected from your regular doctor's visits and medical records. This includes details about your diagnosis, symptoms, how your condition progresses over time, and any treatments you are already receiving, such as sebelipase alfa.

There won't be any extra appointments or specific tests required just for this registry. The information will be gathered during your routine medical care. The goal is to track your health journey over a long period to see how LAL Deficiency affects people and how different approaches to care work. The total duration of your participation depends on how long the registry continues and how long you wish to share your data.