Clinical trial NCT06036693: MPS (RaDiCo Cohort) (RaDiCo-MPS)
Official title: Mucopolysaccharidosis Patients in France in the Era of Specific Therapeutics
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Mucopolysaccharidosis I
Mucopolysaccharidosis II
Mucopolysaccharidosis III
Mucopolysaccharidosis IV
Mucopolysaccharidosis VI
Mucopolysaccharidosis VII
Mucopolysaccharidosis IX
Multiple Sulfatase Deficiency Disease
Lead sponsor: Institut National de la Santé Et de la Recherche Médicale, France
Sponsor class: OTHER_GOV
First posted: 2023-09-14
Enrollment: 1000
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: OTHER
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Prevalent and incident patients will be included in the cohort RaDiCo-MPS.

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.


Eligibility criteria: 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.

Primary outcomes:
measure: Evaluation of the clinical data of MPS like growth for each system
timeFrame: Through study completion, an average of 5 years
measure: Evaluation of the clinical data of MPS like signs for each system
timeFrame: Through study completion, an average of 5 years
measure: Evaluation of the clinical data of MPS like symptoms for each system
timeFrame: Through study completion, an average of 5 years
measure: Evaluation of the clinical data of MPS like complications for each system
timeFrame: Through study completion, an average of 5 years
measure: Evaluation of the clinical data of MPS like psychomotor milestones
timeFrame: Through study completion, an average of 5 years
measure: Evaluation of the clinical data of MPS like cognitive evolution
timeFrame: Through study completion, an average of 5 years
measure: Evaluation of the clinical data of MPS like handicap using scales adapted to multivisceral disease for all types of MPS
timeFrame: Through study completion, an average of 5 years
measure: Evaluation of the clinical data of MPS like handicap using scales adapted to cognitive and neurologic disease for the types I, II, III VII
timeFrame: Through study completion, an average of 5 years
measure: Evaluation of the radiological data of MPS like standard bone radiographs
timeFrame: Through study completion, an average of 5 years
measure: Evaluation of the radiological data of MPS like abdominal echography
timeFrame: Through study completion, an average of 5 years
measure: Evaluation of the radiological data of MPS like echocardiography
timeFrame: Through study completion, an average of 5 years
measure: Evaluation of the radiological data of MPS like cerebral and medullar tomodensitometry
timeFrame: Through study completion, an average of 5 years
measure: Evaluation of the radiological data of MPS like magnetic resonance imaging
timeFrame: Through study completion, an average of 5 years
measure: Evaluation of the electrophysiological data of MPS like EMG
timeFrame: Through study completion, an average of 5 years
measure: Evaluation of the electrophysiological data of MPS like EEG
timeFrame: Through study completion, an average of 5 years
measure: Evaluation of the electrophysiological data of MPS like ERG
timeFrame: Through study completion, an average of 5 years
measure: Evaluation of the biochemical data of MPS like urinary GAG before specific treatment
timeFrame: Through study completion, an average of 5 years
measure: Evaluation of the biochemical data of MPS like urinary GAG during specific treatment
timeFrame: Through study completion, an average of 5 years
measure: Evaluation of the biochemical data of MPS like enzyme activities before specific treatment
timeFrame: Through study completion, an average of 5 years
measure: Evaluation of the biochemical data of MPS like enzyme activities during specific treatment
timeFrame: Through study completion, an average of 5 years
measure: Evaluation of the biochemical data of MPS like specific antibodies
timeFrame: Through study completion, an average of 5 years
measure: Evaluation of the molecular data of MPS
timeFrame: Through study completion, an average of 5 years
Secondary outcomes:
measure: Description of the management of MPS diseases without specific treatment
timeFrame: Through study completion, an average of 5 years
measure: Description of the management of MPS diseases before specific treatment
timeFrame: Through study completion, an average of 5 years
measure: Description of the management of MPS diseases under specific treatment.
timeFrame: Through study completion, an average of 5 years
measure: Description of the outcome of MPS diseases without specific treatment
timeFrame: Through study completion, an average of 5 years
measure: Description of the outcome of MPS diseases before specific treatment
timeFrame: Through study completion, an average of 5 years
measure: Description of the outcome of MPS diseases under specific treatment.
timeFrame: Through study completion, an average of 5 years
measure: Identification of mutation(s) in each MPS type
timeFrame: Through study completion, an average of 5 years
measure: Establishment of genotype/phenotype relationships in each MPS type.
timeFrame: Through study completion, an average of 5 years
Other outcomes:
Locations:
city: Angers
country: France
facility: Centre Hospitalier Universitaire d'Angers
city: Bordeaux
country: France
facility: Hôpital des Enfants - Groupe Hospitalier Pellegrin
city: Brest
country: France
facility: Hôpital Morvan
city: Clermont-Ferrand
country: France
facility: Hôpital d'Estaing
city: Clichy
country: France
facility: Hôpital Beaujon
city: Garches
country: France
facility: Hôpital Raymond-Poincaré
city: Lille
country: France
facility: Hôpital Jeanne de Flandre
city: Marseille
country: France
facility: Hôpital de la Timone
city: Montpellier
country: France
facility: Hôpital Gui de Chauliac
city: Nancy
country: France
facility: Hôpital Brabois
city: Paris
country: France
facility: Hôpital Armand Trousseau
city: Paris
country: France
facility: Hôpital de la Croix Saint-Simon
city: Paris
country: France
facility: Hôpital de la Pitié-Salpêtrière
city: Paris
country: France
facility: Hôpital Necker-Enfants Malades
city: Paris
country: France
facility: Hôpital Robert Debré
city: Pau
country: France
facility: Centre Hospitalier de Pau
city: Reims
country: France
facility: American Memorial Hospital
city: Rennes
country: France
facility: Hôpital Pontchaillou
city: Rouen
country: France
facility: Hôpital Charles Nicolle
city: Strasbourg
country: France
facility: Hôpital de Hautepierre
city: Toulouse
country: France
facility: Clinique Monié
city: Toulouse
country: France
facility: Hôpital des Enfants
city: Tours
country: France
facility: Hôpital Clocheville
Study officials:
affiliation: INSERM UMR 1141
name: Thierry BILLETTE DE VILLEMEUR
role: PRINCIPAL_INVESTIGATOR
References: