RaDiCo-MPS - RaDiCo-MPS - Mucopolysaccharidosis patients in France in the era of specific therapeutics
Responsable(s) :
Héron Bénédicte
Billette Thierry, UMR 1141
Billette Thierry, UMR 1141
Date de modification : 21/02/2024 | Version : 1 | ID : 74146
| Général | |
| Identification | |
| Nom détaillé | RaDiCo-MPS - Mucopolysaccharidosis patients in France in the era of specific therapeutics |
| Sigle ou acronyme | RaDiCo-MPS |
| Numéro d'enregistrement (ID-RCB ou EUDRACT, CNIL, CPP, etc.) | CCTIRS n° 16-570 / CPP n°DC-2015-2482 |
| Thématiques générales | |
| Domaine médical |
Cardiology Dermatology, venereology Disability/handicap Endocrinology and metabolism Gastroenterology et hepatology Neurology Odontology Ophthalmology Otolaryngology or ENT Pediatrics Pneumology Psychology and psychiatry Rare diseases Rheumatology Urology, andrology and nephrology |
| Etude en lien avec la Covid-19 |
No |
| Pathologie, précisions | The mucopolysaccharidoses (MPS) are lysosomal storage disorders caused by accumulation of sulphated carbohydrate polymers in the lysosomes leading to a cascade of multisystemic disease manifestations. The sulphated polymers are composed of a central core protein attached to disaccharide branches deriving from sulphated monosaccharides or glycosaminoglycans (GAGs, formerly termed mucopolysaccharides,). The primary storage products are: dermatan sulphate, chiefly a constituent of connective tissues; heparan sulphate, chiefly a constituent of cellular membranes; and keratan sulphate and chondroitin sulphate, found abundantly in the cartilages and in the cornea. GAG excretion in urine allows screening for MPS both quantitatively (elevated urinary GAG content) and qualitatively (characteristic profile of sulphated derivatives). MPS are rare diseases; their overall incidence varies over the countries and ethnicities but is estimated to be approximately 1:25 000 to 1:30 000 births. Inheritance is autosomal recessive for all but MPS-II (or Hunter disease) that is an X-linked disorder. The genes responsible for the 11 enzyme deficiencies corresponding to the following 7 clinical subtypes have been identified. MPS are chronic, progressive multivisceral diseases. Age at first symptoms may vary according to the severity of the disease. They can occur in early infancy or early childhood in the severe cases (the most severe forms can even manifest antenatally). |
| Responsable(s) scientifique(s) | |
| Nom du responsable | Héron |
| Prénom | Bénédicte |
| Adresse |
Service de Neuropédiatrie Hôpital Armand Trousseau 26 Avenue du Dr Arnold Netter 75012 Paris FRANCE |
| Téléphone | +33 (0)1 44 73 65 75 |
| Nom du responsable | Billette |
| Prénom | Thierry |
| Laboratoire | UMR 1141 |
| Organisme | Institut National de la Santé et de la Recherche Médicale (Inserm) |
| Collaborations | |
| Financements | |
| Financements |
Mixed |
| Précisions | The RaDiCo-MPS cohort is funded by the French « Investissements d'Avenir » cohorts programme, Grant « ANR » 10-COHO-0003. This study is also supported by industrial funding through a public-private partnership. |
| Gouvernance de la base de données | |
| Organisation(s) responsable(s) ou promoteur | Institut National de la Santé et de la Recherche Médicale (Inserm) |
| Statut de l’organisation |
Secteur Public |
| Existence de comités scientifique ou de pilotage |
Yes |
| Labellisations et évaluations de la base de données | Security audit certification of the database. Data management and continuous quality control of data. |
| Contact(s) supplémentaire(s) | |
| Caractéristiques | |
| Type de base de données | |
| Type de base de données |
Morbidity registers |
| Origine du recrutement des participants |
A selection of health institutions and services |
| Le recrutement dans la base de données s'effectue dans le cadre d'une étude interventionnelle |
No |
| Objectif de la base de données | |
| Objectif principal | The primary objective of the RaDiCo-MPS cohort 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. |
| Critères d'inclusion |
The RaDiCo-MPS Cohort inclusion criteria are the following:
• 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. |
| Type de population | |
| Age |
Newborns (birth to 28 days) Infant (28 days to 2 years) Early childhood (2 to 5 years) Childhood (6 to 13 years) Adolescence (13 to 18 years) Adulthood (19 to 24 years) Adulthood (25 to 44 years) Adulthood (45 to 64 years) |
| Population concernée |
Sick population |
| Pathologie | E76 - Disorders of glycosaminoglycan metabolism |
| Sexe |
Male Woman |
| Champ géographique |
National |
| Collecte | |
| Dates | |
| Année du premier recueil | 2017 |
| Taille de la base de données | |
| Taille de la base de données (en nombre d'individus) |
< 500 individuals |
| Données | |
| Activité de la base |
Current data collection |
| Type de données recueillies |
Clinical data Declarative data Paraclinical data Biological data |
| Données cliniques, précisions |
Direct physical measures Medical registration |
| Détail des données cliniques recueillies | Growth, signs, symptoms and complications for each system (cardiologic, pulmonary, neurologic, gastrologic,...), psychomotor milestones and cognitive evolution, molecular data ... |
| Données déclaratives, précisions |
Paper self-questionnaire Internet self-questionnaire Face to face interview |
| Détail des données déclaratives recueillies | Vineland II, Quality of life questionnaires, Patient Global Impression of Improvement (PGI-I), .... |
| Données paracliniques, précisions | Echocardiography, cerebral imaging, pulmonary function testing, .... |
| Données biologiques, précisions | Urinary GAG, enzyme activities, before and during specific treatment, .... |
| Existence d’une biothèque |
No |
| Paramètres de santé étudiés |
Health event/morbidity Health event/mortality Quality of life/health perception |
| Modalités | |
| Mode de recueil des données | eCRF in secure web access, secure cloud and HADS hosting |
| Nomenclatures employées | Drug dictionary (DCIs) |
| Procédures qualité utilisées | Data Management Plan and Data Validation Plan. Continuous data management (automatic control rules and query system) |
| Suivi des participants |
Yes |
| Modalités de suivi des participants |
Monitoring by convocation of the participant Monitoring by contact with the referring doctor |
| Pathologie suivies | E76 - Disorders of glycosaminoglycan metabolism |
| Appariement avec des sources administratives |
No |
| Valorisation et accès | |
| Valorisation et accès | |
| Accès | |
| Existence d’un document qui répertorie les variables et les modalités de codage |
Yes |
| Charte d'accès aux données (convention de mise à disposition, format de données et délais de mise à disposition) |
Requests for access to RaDiCo-MPS data (aggregated or individual) will be considered by the Scientific Committee following the submission of a summary of a specific research project, as defined in the Charter of access to resources. Requests should be sent to: mps@radico.fr
|
| Accès aux données agrégées |
Access on specific project only |
| Accès aux données individuelles |
Access on specific project only |
