MPS (RaDiCo Cohort) (RaDiCo-MPS)

September 12, 2023 updated by: Institut National de la Santé Et de la Recherche Médicale, France

Mucopolysaccharidosis Patients in France in the Era of Specific Therapeutics

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 Overview

Status

Recruiting

Conditions

Study Type

Observational

Enrollment (Estimated)

1000

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • France
      • Angers, France
        • Recruiting
        • Centre Hospitalier Universitaire d'Angers
        • Contact:
          • Magalie BARTH
      • Bordeaux, France
        • Not yet recruiting
        • Hôpital des Enfants - Groupe Hospitalier Pellegrin
        • Contact:
          • Didier LACOMBE
      • Brest, France
        • Recruiting
        • Hopital Morvan
        • Contact:
          • Elise SACAZE
      • Clermont-Ferrand, France
        • Not yet recruiting
        • Hopital D'Estaing
        • Contact:
          • Marc BERGER
      • Clichy, France
        • Recruiting
        • Hopital Beaujon
        • Contact:
          • Nadia BELMATOUG
      • Garches, France
        • Not yet recruiting
        • Hôpital Raymond-Poincaré
        • Contact:
          • Dominique-Paul GERMAIN
      • Lille, France
        • Recruiting
        • Hôpital Jeanne de Flandre
        • Contact:
          • Anne-Sophie GUEMANN
      • Marseille, France
        • Recruiting
        • Hopital de la Timone
        • Contact:
          • Brigitte CHABROL
      • Montpellier, France
        • Recruiting
        • Hopital Gui de Chauliac
        • Contact:
          • Agathe Roubertie
      • Nancy, France
        • Recruiting
        • Hôpital Brabois
        • Contact:
          • François FEILLET
      • Paris, France
        • Recruiting
        • Hôpital Necker-Enfants Malades
        • Contact:
          • Anaïs BRASSIER
      • Paris, France
        • Recruiting
        • Hopital Robert Debre
        • Contact:
          • Samia PICHARD
      • Paris, France
        • Recruiting
        • Hôpital Armand Trousseau
        • Contact:
          • Bénédicte HERON
      • Paris, France
        • Recruiting
        • Hôpital de la Pitié-Salpêtrière
        • Contact:
          • Yann NADJAR
      • Paris, France
        • Not yet recruiting
        • Hôpital de la Croix Saint-Simon
        • Contact:
          • Wladimir MAUHIN
      • Pau, France
        • Recruiting
        • Centre Hospitalier de Pau
        • Contact:
          • Pierre BEZE-BEYRIE
      • Reims, France
        • Not yet recruiting
        • American Memorial Hospital
        • Contact:
          • Nathalie BEDNAREK
      • Rennes, France
        • Recruiting
        • Hopital Pontchaillou
        • Contact:
          • Bérengère CADOR
      • Rouen, France
        • Not yet recruiting
        • Hopital Charles Nicolle
        • Contact:
          • Stéphanie TORRE
      • Strasbourg, France
        • Not yet recruiting
        • Hopital de Hautepierre
        • Contact:
          • Marie-Thérèse ABI WARDE
      • Toulouse, France
        • Not yet recruiting
        • Hopital des Enfants
        • Contact:
          • Guy TOUATI
      • Toulouse, France
        • Not yet recruiting
        • Clinique Monié
        • Contact:
          • Francis GACHES
      • Tours, France
        • Recruiting
        • Hôpital Clocheville
        • Contact:
          • Marine TARDIEU

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Prevalent and incident patients will be included in the cohort RaDiCo-MPS.

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
Evaluation of the clinical data of MPS like growth for each system
Time Frame: Through study completion, an average of 5 years
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Through study completion, an average of 5 years

Secondary Outcome Measures

Outcome Measure
Time Frame
Description of the management of MPS diseases without specific treatment
Time Frame: Through study completion, an average of 5 years
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
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
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
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
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
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
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
Through study completion, an average of 5 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Institut National de la Santé Et de la Recherche Médicale, France

Investigators

  • Principal Investigator: Thierry BILLETTE DE VILLEMEUR, INSERM UMR 1141

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

December 20, 2017

Primary Completion (Estimated)

December 20, 2024

Study Completion (Estimated)

December 20, 2024

Study Registration Dates

First Submitted

July 18, 2023

First Submitted That Met QC Criteria

September 12, 2023

First Posted (Actual)

September 14, 2023

Study Record Updates

Last Update Posted (Actual)

September 14, 2023

Last Update Submitted That Met QC Criteria

September 12, 2023

Last Verified

July 1, 2023

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • C16-53

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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