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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.
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| 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 |
| 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 |
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Inclusion Criteria:
There are no non-inclusion criteria.
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Prevalent and incident patients will be included in the cohort RaDiCo-MPS.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Bénédicte HERON | Contact | 01 44 73 65 75 | benedicte.heron@aphp.fr |
| Name | Affiliation | Role |
|---|---|---|
| Thierry BILLETTE DE VILLEMEUR | INSERM UMR 1141 | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Centre Hospitalier Universitaire d'Angers | Recruiting | Angers | France |
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| 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 |
| 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 |
| Hôpital des Enfants - Groupe Hospitalier Pellegrin | Not yet recruiting | Bordeaux | France |
|
| Hôpital Morvan | Recruiting | Brest | France |
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| Hôpital d'Estaing | Not yet recruiting | Clermont-Ferrand | France |
|
| Hôpital Beaujon | Recruiting | Clichy | France |
|
| Hôpital Raymond-Poincaré | Not yet recruiting | Garches | France |
|
| Hôpital Jeanne de Flandre | Recruiting | Lille | France |
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| Hôpital de la Timone | Recruiting | Marseille | France |
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| Hôpital Gui de Chauliac | Recruiting | Montpellier | France |
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| Hôpital Brabois | Recruiting | Nancy | France |
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| Hôpital Armand Trousseau | Recruiting | Paris | France |
|
| Hôpital de la Croix Saint-Simon | Not yet recruiting | Paris | France |
|
| Hôpital de la Pitié-Salpêtrière | Recruiting | Paris | France |
|
| Hôpital Necker-Enfants Malades | Recruiting | Paris | France |
|
| Hôpital Robert Debré | Recruiting | Paris | France |
|
| Centre Hospitalier de Pau | Recruiting | Pau | France |
|
| American Memorial Hospital | Not yet recruiting | Reims | France |
|
| Hôpital Pontchaillou | Recruiting | Rennes | France |
|
| Hôpital Charles Nicolle | Not yet recruiting | Rouen | France |
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| Hôpital de Hautepierre | Not yet recruiting | Strasbourg | France |
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| Clinique Monié | Not yet recruiting | Toulouse | France |
|
| Hôpital des Enfants | Not yet recruiting | Toulouse | France |
|
| Hôpital Clocheville | Recruiting | Tours | France |
|
| ID | Term |
|---|---|
| D008059 | Mucopolysaccharidosis I |
| D016532 | Mucopolysaccharidosis II |
| D009084 | Mucopolysaccharidosis III |
| D009085 | Mucopolysaccharidosis IV |
| D009087 | Mucopolysaccharidosis VI |
| D016538 | Mucopolysaccharidosis VII |
| D052517 | Multiple Sulfatase Deficiency Disease |
| ID | Term |
|---|---|
| D009083 | Mucopolysaccharidoses |
| D002239 | Carbohydrate Metabolism, Inborn Errors |
| D008661 | Metabolism, Inborn Errors |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D016464 | Lysosomal Storage Diseases |
| D017520 | Mucinoses |
| D003240 | Connective Tissue Diseases |
| D017437 | Skin and Connective Tissue Diseases |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D038901 | X-Linked Intellectual Disability |
| D008607 | Intellectual Disability |
| D019954 | Neurobehavioral Manifestations |
| D009461 | Neurologic Manifestations |
| D009422 | Nervous System Diseases |
| D040181 | Genetic Diseases, X-Linked |
| D020271 | Heredodegenerative Disorders, Nervous System |
| D052516 | Sulfatidosis |
| D013106 | Sphingolipidoses |
| D020140 | Lysosomal Storage Diseases, Nervous System |
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D008064 | Lipidoses |
| D008052 | Lipid Metabolism, Inborn Errors |
| D052439 | Lipid Metabolism Disorders |
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