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.
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)
None
Prevalent and incident patients will be included in the cohort RaDiCo-MPS.
Cohort
Other
Not listed
Evaluation of the clinical data of MPS like growth for each system
Evaluation of the clinical data of MPS like signs for each system
Evaluation of the clinical data of MPS like symptoms for each system
Evaluation of the clinical data of MPS like complications for each system
Description of the management of MPS diseases without specific treatment
Description of the management of MPS diseases before specific treatment
Description of the management of MPS diseases under specific treatment.
Description of the outcome of MPS diseases without specific treatment
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