Mucopolysaccharidosis Patients in France in the Era of Specific Therapeutics

What this Trial Is About

Researchers are studying mucopolysaccharidosis (MPS) diseases to better understand their patterns and natural progress. This observational study collects detailed past and ongoing health information from French patients with different types of MPS, including their symptoms, complications, and cognitive development. The goal is to gather comprehensive data to characterize how these diseases affect patients over time. Participants are not given any specific treatment as part of this study. Instead, the study gathers clinical, radiological, electrophysiological, biochemical, and molecular data through regular evaluations. These include growth assessments, imaging tests like bone X-rays and MRI, enzyme activity measurements, and psychomotor and cognitive milestone tracking, collected over an average of five years. During the study, participants will have ongoing clinical evaluations and various tests to monitor their health status and disease progression. The researchers will analyze data on symptoms, complications, and treatment outcomes, including before and during specific therapies if applicable. This long-term follow-up aims to provide detailed insight into MPS diseases and their management, with participation lasting about five years on average.

MPS (RaDiCo Cohort) (RaDiCo-MPS)