Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis III, Mucopolysaccharidosis IV, Mucopolysaccharidosis IX, Mucopolysaccharidosis VI, Mucopolysaccharidosis VII, Multiple Sulfatase Deficiency Disease
Conditions
Brief summary
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.
Interventions
None listed
Sponsors
Institut National de la Santé Et de la Recherche Médicale, France
Study design
Observational model
COHORT
Time perspective
OTHER
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| 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 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 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 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
| Measure | 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 |
Countries
France
Contacts
CONTACTBénédicte HERON
PRINCIPAL_INVESTIGATORThierry BILLETTE DE VILLEMEUR
INSERM UMR 1141
Outcome results
None listed