MPS (RaDiCo Cohort) (RaDiCo-MPS)
- Conditions
- Mucopolysaccharidosis IVMucopolysaccharidosis IMucopolysaccharidosis IIIMucopolysaccharidosis VIMucopolysaccharidosis VIIMucopolysaccharidosis IIMucopolysaccharidosis IXMultiple Sulfatase Deficiency Disease
- Registration Number
- NCT06036693
- Lead Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
- 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.
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- RECRUITING
- Sex
- All
- Target Recruitment
- 1000
- 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.
Not provided
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method 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 growth 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 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 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 biochemical data of MPS like urinary GAG during specific treatment 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 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 enzyme activities before 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
Name Time Method 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 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 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 management of MPS diseases under specific treatment. 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
Trial Locations
- Locations (23)
Hôpital Pontchaillou
🇫🇷Rennes, France
Hôpital de Hautepierre
🇫🇷Strasbourg, France
Hôpital des Enfants
🇫🇷Toulouse, France
Clinique Monié
🇫🇷Toulouse, France
Hôpital Clocheville
🇫🇷Tours, France
Hôpital Morvan
🇫🇷Brest, France
Hôpital Brabois
🇫🇷Nancy, France
Hôpital de la Pitié-Salpêtrière
🇫🇷Paris, France
Hôpital Jeanne de Flandre
🇫🇷Lille, France
Hôpital de la Timone
🇫🇷Marseille, France
Centre Hospitalier de Pau
🇫🇷Pau, France
Hôpital Robert Debré
🇫🇷Paris, France
American Memorial Hospital
🇫🇷Reims, France
Hôpital Charles Nicolle
🇫🇷Rouen, France
Hôpital des Enfants - Groupe Hospitalier Pellegrin
🇫🇷Bordeaux, France
Centre Hospitalier Universitaire d'Angers
🇫🇷Angers, France
Hôpital Gui de Chauliac
🇫🇷Montpellier, France
Hôpital d'Estaing
🇫🇷Clermont-Ferrand, France
Hôpital Raymond-Poincaré
🇫🇷Garches, France
Hôpital Beaujon
🇫🇷Clichy, France
Hôpital de la Croix Saint-Simon
🇫🇷Paris, France
Hôpital Armand Trousseau
🇫🇷Paris, France
Hôpital Necker-Enfants Malades
🇫🇷Paris, France