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.
Study Type
OBSERVATIONAL
Enrollment
1,000
Centre Hospitalier Universitaire d'Angers
Angers, France
RECRUITINGHôpital des Enfants - Groupe Hospitalier Pellegrin
Bordeaux, France
NOT_YET_RECRUITINGHôpital Morvan
Brest, France
RECRUITINGHôpital d'Estaing
Clermont-Ferrand, France
NOT_YET_RECRUITINGHôpital Beaujon
Clichy, France
RECRUITINGHôpital Raymond-Poincaré
Garches, France
NOT_YET_RECRUITINGHôpital Jeanne de Flandre
Lille, France
RECRUITINGHôpital de la Timone
Marseille, France
RECRUITINGHôpital Gui de Chauliac
Montpellier, France
RECRUITINGHôpital Brabois
Nancy, France
RECRUITING...and 13 more locations
Evaluation of the clinical data of MPS like growth for each system
Time frame: Through study completion, an average of 5 years
Evaluation of the clinical data of MPS like signs for each system
Time frame: Through study completion, an average of 5 years
Evaluation of the clinical data of MPS like symptoms for each system
Time frame: Through study completion, an average of 5 years
Evaluation of the clinical data of MPS like complications for each system
Time frame: Through study completion, an average of 5 years
Evaluation of the clinical data of MPS like psychomotor milestones
Time frame: Through study completion, an average of 5 years
Evaluation of the clinical data of MPS like cognitive evolution
Time frame: 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
Time frame: 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
Time frame: Through study completion, an average of 5 years
Evaluation of the radiological data of MPS like standard bone radiographs
Time frame: Through study completion, an average of 5 years
Evaluation of the radiological data of MPS like abdominal echography
Time frame: Through study completion, an average of 5 years
Evaluation of the radiological data of MPS like echocardiography
Time frame: Through study completion, an average of 5 years
Evaluation of the radiological data of MPS like cerebral and medullar tomodensitometry
Time frame: Through study completion, an average of 5 years
Evaluation of the radiological data of MPS like magnetic resonance imaging
Time frame: Through study completion, an average of 5 years
Evaluation of the electrophysiological data of MPS like EMG
Time frame: Through study completion, an average of 5 years
Evaluation of the electrophysiological data of MPS like EEG
Time frame: Through study completion, an average of 5 years
Evaluation of the electrophysiological data of MPS like ERG
Time frame: Through study completion, an average of 5 years
Evaluation of the biochemical data of MPS like urinary GAG before specific treatment
Time frame: Through study completion, an average of 5 years
Evaluation of the biochemical data of MPS like urinary GAG during specific treatment
Time frame: Through study completion, an average of 5 years
Evaluation of the biochemical data of MPS like enzyme activities before specific treatment
Time frame: Through study completion, an average of 5 years
Evaluation of the biochemical data of MPS like enzyme activities during specific treatment
Time frame: Through study completion, an average of 5 years
Evaluation of the biochemical data of MPS like specific antibodies
Time frame: Through study completion, an average of 5 years
Evaluation of the molecular data of MPS
Time frame: Through study completion, an average of 5 years
Description of the management of MPS diseases without specific treatment
Time frame: Through study completion, an average of 5 years
Description of the management of MPS diseases before specific treatment
Time frame: Through study completion, an average of 5 years
Description of the management of MPS diseases under specific treatment.
Time frame: Through study completion, an average of 5 years
Description of the outcome of MPS diseases without specific treatment
Time frame: Through study completion, an average of 5 years
Description of the outcome of MPS diseases before specific treatment
Time frame: Through study completion, an average of 5 years
Description of the outcome of MPS diseases under specific treatment.
Time frame: Through study completion, an average of 5 years
Identification of mutation(s) in each MPS type
Time frame: Through study completion, an average of 5 years
Establishment of genotype/phenotype relationships in each MPS type.
Time frame: Through study completion, an average of 5 years
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