MPS (RaDiCo Cohort) (RaDiCo-MPS)
Mucopolysaccharidosis Patients in France in the Era of Specific Therapeutics
1 other identifier
observational
1,000
1 country
23
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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started Dec 2017
Longer than P75 for all trials
23 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
Click on a node to explore related trials.
Study Timeline
Key milestones and dates
Study Start
First participant enrolled
December 20, 2017
CompletedFirst Submitted
Initial submission to the registry
July 18, 2023
CompletedFirst Posted
Study publicly available on registry
September 14, 2023
CompletedPrimary Completion
Last participant's last visit for primary outcome
December 1, 2026
ExpectedStudy Completion
Last participant's last visit for all outcomes
December 1, 2026
February 11, 2026
February 1, 2026
9 years
July 18, 2023
February 10, 2026
Conditions
Outcome Measures
Primary Outcomes (22)
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 Outcomes (8)
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
- +3 more secondary outcomes
Eligibility Criteria
Prevalent and incident patients will be included in the cohort RaDiCo-MPS.
You may qualify if:
- 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)
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (23)
Centre Hospitalier Universitaire d'Angers
Angers, France
Hôpital des Enfants - Groupe Hospitalier Pellegrin
Bordeaux, France
Hôpital Morvan
Brest, France
Hôpital d'Estaing
Clermont-Ferrand, France
Hôpital Beaujon
Clichy, France
Hôpital Raymond-Poincaré
Garches, France
Hôpital Jeanne de Flandre
Lille, France
Hôpital de la Timone
Marseille, France
Hôpital Gui de Chauliac
Montpellier, France
Hôpital Brabois
Nancy, France
Hôpital Armand Trousseau
Paris, France
Hôpital de la Croix Saint-Simon
Paris, France
Hôpital de la Pitié-Salpêtrière
Paris, France
Hôpital Necker-Enfants Malades
Paris, France
Hôpital Robert Debré
Paris, France
Centre Hospitalier de Pau
Pau, France
American Memorial Hospital
Reims, France
Hôpital Pontchaillou
Rennes, France
Hôpital Charles Nicolle
Rouen, France
Hôpital de Hautepierre
Strasbourg, France
Clinique Monié
Toulouse, France
Hôpital des Enfants
Toulouse, France
Hôpital Clocheville
Tours, France
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Thierry BILLETTE DE VILLEMEUR
INSERM UMR 1141
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- OTHER
- Sponsor Type
- OTHER GOV
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
July 18, 2023
First Posted
September 14, 2023
Study Start
December 20, 2017
Primary Completion (Estimated)
December 1, 2026
Study Completion (Estimated)
December 1, 2026
Last Updated
February 11, 2026
Record last verified: 2026-02