International Registry for Patients Diagnosed With Lysosomal Storage Diseases Including Prenatal Cases

What this Trial Is About

Researchers are gathering information about patients diagnosed with Lysosomal Storage Diseases LSDs to better understand the natural course of these diseases and the results of fetal therapies. The goal is to improve how these conditions are managed before birth and enhance patient care overall. This registry collects both past and current data from individuals diagnosed with various types of LSDs. This study is observational and does not involve any treatments or interventions. It includes patients diagnosed with different lysosomal storage diseases, either before birth or after. The registry aims to collect detailed information on patient outcomes, clinical management, medical decisions, and care quality to help improve healthcare practices for these conditions. Participants will provide data over time, which may include prenatal features, urine tests measuring glycosaminoglycans GAGs, antibody levels against enzymes, and assessments of heart, growth, movement, and brain functions. The study will track these outcomes up to 15 years, helping researchers understand how these diseases progress and how therapies impact patients. No treatments are given as part of the study, and participation may include sharing medical information and attending periodic evaluations.

Registry of Patients Diagnosed With Lysosomal Storage Diseases