MPS (RaDiCo Cohort) (RaDiCo-MPS)

Sponsor

Institut National de la Santé Et de la Recherche Médicale, France (Other)

Overall Status

Recruiting

CT.gov ID

NCT06036693

Collaborator

(none)

1,000

Enrollment

Locations

Anticipated Duration (Months)

43.5

Patients Per Site

0.5

Patients Per Site Per Month

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
Mucopolysaccharidosis I Mucopolysaccharidosis II Mucopolysaccharidosis III Mucopolysaccharidosis IV Mucopolysaccharidosis VI Mucopolysaccharidosis VII Mucopolysaccharidosis IX Multiple Sulfatase Deficiency Disease

Study Design

Study Type:

Observational

Anticipated Enrollment :

1000 participants

Observational Model:

Cohort

Time Perspective:

Other

Official Title:

Mucopolysaccharidosis Patients in France in the Era of Specific Therapeutics

Actual Study Start Date :

Dec 20, 2017

Anticipated Primary Completion Date :

Dec 20, 2024

Anticipated Study Completion Date :

Dec 20, 2024

Outcome Measures

Primary Outcome Measures

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

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]

Eligibility Criteria

Criteria

Ages Eligible for Study:

N/A and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

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.

Contacts and Locations

Locations

	Site	City	Country
1	Centre Hospitalier Universitaire d'Angers	Angers	France
2	Hôpital des Enfants - Groupe Hospitalier Pellegrin	Bordeaux	France
3	Hôpital Morvan	Brest	France
4	Hôpital d'Estaing	Clermont-Ferrand	France
5	Hôpital Beaujon	Clichy	France
6	Hôpital Raymond-Poincaré	Garches	France
7	Hôpital Jeanne de Flandre	Lille	France
8	Hôpital de la Timone	Marseille	France
9	Hôpital Gui de Chauliac	Montpellier	France
10	Hôpital Brabois	Nancy	France
11	Hôpital Armand Trousseau	Paris	France
12	Hôpital de la Croix Saint-Simon	Paris	France
13	Hôpital de la Pitié-Salpêtrière	Paris	France
14	Hôpital Necker-Enfants Malades	Paris	France
15	Hôpital Robert Debré	Paris	France
16	Centre Hospitalier de Pau	Pau	France
17	American Memorial Hospital	Reims	France
18	Hôpital Pontchaillou	Rennes	France
19	Hôpital Charles Nicolle	Rouen	France
20	Hôpital de Hautepierre	Strasbourg	France
21	Clinique Monié	Toulouse	France
22	Hôpital des Enfants	Toulouse	France
23	Hôpital Clocheville	Tours	France