MPS (RaDiCo Cohort) (RaDiCo-MPS)

Mucopolysaccharidosis II Clinical Trial

Official title:

Mucopolysaccharidosis Patients in France in the Era of Specific Therapeutics

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT06036693
• Other study ID #: C16-53
• Status: Recruiting
• Start date: December 20, 2017
• Est. completion date: December 20, 2024

Study information

• Verified date: July 2023
• Source: Institut National de la Santé Et de la Recherche Médicale, France
• Contact: Bénédicte HERON
• Phone: 01 44 73 65 75
• Email: benedicte.heron[@]aphp.fr
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 1000
• Est. completion date: December 20, 2024
• Est. primary completion date: December 20, 2024
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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.

Related Conditions & MeSH terms

• Deficiency Diseases
• Mucopolysaccharidoses
• Mucopolysaccharidosis I
• Mucopolysaccharidosis II
• Mucopolysaccharidosis III
• Mucopolysaccharidosis IV
• Mucopolysaccharidosis VI
• Mucopolysaccharidosis VII
• Multiple Sulfatase Deficiency Disease

Locations

Country	Name	City	State
France	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

Sponsors (1)

Lead Sponsor	Collaborator
Institut National de la Santé Et de la Recherche Médicale, France

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Evaluation of the clinical data of MPS like growth for each system		Through study completion, an average of 5 years
Primary	Evaluation of the clinical data of MPS like signs for each system		Through study completion, an average of 5 years
Primary	Evaluation of the clinical data of MPS like symptoms for each system		Through study completion, an average of 5 years
Primary	Evaluation of the clinical data of MPS like complications for each system		Through study completion, an average of 5 years
Primary	Evaluation of the clinical data of MPS like psychomotor milestones		Through study completion, an average of 5 years
Primary	Evaluation of the clinical data of MPS like cognitive evolution		Through study completion, an average of 5 years
Primary	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
Primary	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
Primary	Evaluation of the radiological data of MPS like standard bone radiographs		Through study completion, an average of 5 years
Primary	Evaluation of the radiological data of MPS like abdominal echography		Through study completion, an average of 5 years
Primary	Evaluation of the radiological data of MPS like echocardiography		Through study completion, an average of 5 years
Primary	Evaluation of the radiological data of MPS like cerebral and medullar tomodensitometry		Through study completion, an average of 5 years
Primary	Evaluation of the radiological data of MPS like magnetic resonance imaging		Through study completion, an average of 5 years
Primary	Evaluation of the electrophysiological data of MPS like EMG		Through study completion, an average of 5 years
Primary	Evaluation of the electrophysiological data of MPS like EEG		Through study completion, an average of 5 years
Primary	Evaluation of the electrophysiological data of MPS like ERG		Through study completion, an average of 5 years
Primary	Evaluation of the biochemical data of MPS like urinary GAG before specific treatment		Through study completion, an average of 5 years
Primary	Evaluation of the biochemical data of MPS like urinary GAG during specific treatment		Through study completion, an average of 5 years
Primary	Evaluation of the biochemical data of MPS like enzyme activities before specific treatment		Through study completion, an average of 5 years
Primary	Evaluation of the biochemical data of MPS like enzyme activities during specific treatment		Through study completion, an average of 5 years
Primary	Evaluation of the biochemical data of MPS like specific antibodies		Through study completion, an average of 5 years
Primary	Evaluation of the molecular data of MPS		Through study completion, an average of 5 years
Secondary	Description of the management of MPS diseases without specific treatment		Through study completion, an average of 5 years
Secondary	Description of the management of MPS diseases before specific treatment		Through study completion, an average of 5 years
Secondary	Description of the management of MPS diseases under specific treatment.		Through study completion, an average of 5 years
Secondary	Description of the outcome of MPS diseases without specific treatment		Through study completion, an average of 5 years
Secondary	Description of the outcome of MPS diseases before specific treatment		Through study completion, an average of 5 years
Secondary	Description of the outcome of MPS diseases under specific treatment.		Through study completion, an average of 5 years
Secondary	Identification of mutation(s) in each MPS type		Through study completion, an average of 5 years
Secondary	Establishment of genotype/phenotype relationships in each MPS type.		Through study completion, an average of 5 years