MPS (RaDiCo Cohort) (RaDiCo-MPS)

Mucopolysaccharidosis Patients in France in the Era of Specific Therapeutics

The goal of this observational study is to characterize the epidemiology and natural history of MPS diseases by building a retrospective and prospective collection of extensive phenotypic data from French MPS patients.

Inclusion Criteria:

• Confirmed diagnosis of MPS based on clinically relevant enzyme deficiency, with abnormally elevated GAG urinary excretion and/or identification of pathogenic mutations.
• Signed informed consent or parents/guardian non-opposition for deceased patients (minor or protected major)

There are no non-inclusion criteria.