MPS (RaDiCo Cohort) (RaDiCo-MPS)

Study Overview
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Brief Summary
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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.

Official Title
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Mucopolysaccharidosis Patients in France in the Era of Specific Therapeutics

Conditions
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Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis III, Mucopolysaccharidosis IV, Mucopolysaccharidosis VI, Mucopolysaccharidosis VII, Mucopolysaccharidosis IX, Multiple Sulfatase Deficiency Disease

Participation Criteria
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Eligibility Criteria
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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.
Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Evaluation of the clinical data of MPS like growth for each system |  | Through study completion, an average of 5 years | 
| Evaluation of the clinical data of MPS like signs for each system |  | Through study completion, an average of 5 years | 
| Evaluation of the clinical data of MPS like symptoms for each system |  | Through study completion, an average of 5 years | 
| Evaluation of the clinical data of MPS like complications for each system |  | Through study completion, an average of 5 years | 
| Evaluation of the clinical data of MPS like psychomotor milestones |  | Through study completion, an average of 5 years | 
| Evaluation of the clinical data of MPS like cognitive evolution |  | Through study completion, an average of 5 years | 
| Evaluation of the clinical data of MPS like handicap using scales adapted to multivisceral disease for all types of MPS |  | Through study completion, an average of 5 years | 
| Evaluation of the clinical data of MPS like handicap using scales adapted to cognitive and neurologic disease for the types I, II, III VII |  | Through study completion, an average of 5 years | 
| Evaluation of the radiological data of MPS like standard bone radiographs |  | Through study completion, an average of 5 years | 
| Evaluation of the radiological data of MPS like abdominal echography |  | Through study completion, an average of 5 years | 
| Evaluation of the radiological data of MPS like echocardiography |  | Through study completion, an average of 5 years | 
| Evaluation of the radiological data of MPS like cerebral and medullar tomodensitometry |  | Through study completion, an average of 5 years | 
| Evaluation of the radiological data of MPS like magnetic resonance imaging |  | Through study completion, an average of 5 years | 
| Evaluation of the electrophysiological data of MPS like EMG |  | Through study completion, an average of 5 years | 
| Evaluation of the electrophysiological data of MPS like EEG |  | Through study completion, an average of 5 years | 
| Evaluation of the electrophysiological data of MPS like ERG |  | Through study completion, an average of 5 years | 
| Evaluation of the biochemical data of MPS like urinary GAG before specific treatment |  | Through study completion, an average of 5 years | 
| Evaluation of the biochemical data of MPS like urinary GAG during specific treatment |  | Through study completion, an average of 5 years | 
| Evaluation of the biochemical data of MPS like enzyme activities before specific treatment |  | Through study completion, an average of 5 years | 
| Evaluation of the biochemical data of MPS like enzyme activities during specific treatment |  | Through study completion, an average of 5 years | 
| Evaluation of the biochemical data of MPS like specific antibodies |  | Through study completion, an average of 5 years | 
| Evaluation of the molecular data of MPS |  | Through study completion, an average of 5 years | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Description of the management of MPS diseases without specific treatment |  | Through study completion, an average of 5 years | 
| Description of the management of MPS diseases before specific treatment |  | Through study completion, an average of 5 years | 
| Description of the management of MPS diseases under specific treatment. |  | Through study completion, an average of 5 years | 
| Description of the outcome of MPS diseases without specific treatment |  | Through study completion, an average of 5 years | 
| Description of the outcome of MPS diseases before specific treatment |  | Through study completion, an average of 5 years | 
| Description of the outcome of MPS diseases under specific treatment. |  | Through study completion, an average of 5 years | 
| Identification of mutation(s) in each MPS type |  | Through study completion, an average of 5 years | 
| Establishment of genotype/phenotype relationships in each MPS type. |  | Through study completion, an average of 5 years |