RaDiCo-MPS - RaDiCo-MPS - Mucopolysaccharidosis patients in France in the era of specific therapeutics
Head :
Héron Bénédicte
Billette Thierry, UMR 1141
Billette Thierry, UMR 1141
Last update : 02/21/2024 | Version : 1 | ID : 74146
| General | |
| Identification | |
| Detailed name | RaDiCo-MPS - Mucopolysaccharidosis patients in France in the era of specific therapeutics |
| Sign or acronym | RaDiCo-MPS |
| CNIL registration number, number and date of CPP agreement, AFSSAPS (French Health Products Safety Agency) authorisation | CCTIRS n° 16-570 / CPP n°DC-2015-2482 |
| General Aspects | |
| Medical area |
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 |
| Study in connection with Covid-19 |
No |
| Pathology (details) | 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). |
| Scientific investigator(s) (Contact) | |
| Name of the director | Héron |
| Surname | Bénédicte |
| Address |
Service de Neuropédiatrie Hôpital Armand Trousseau 26 Avenue du Dr Arnold Netter 75012 Paris FRANCE |
| Phone | +33 (0)1 44 73 65 75 |
| Name of the director | Billette |
| Surname | Thierry |
| Unit | UMR 1141 |
| Organization | Institut National de la Santé et de la Recherche Médicale (Inserm) |
| Collaborations | |
| Funding | |
| Funding status |
Mixed |
| Details | 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. |
| Governance of the database | |
| Sponsor(s) or organisation(s) responsible | Institut National de la Santé et de la Recherche Médicale (Inserm) |
| Organisation status |
Public |
| Presence of scientific or steering committees |
Yes |
| Labelling and database evaluation | Security audit certification of the database. Data management and continuous quality control of data. |
| Additional contact | |
| Main features | |
| Type of database | |
| Type of database |
Morbidity registers |
| Database recruitment is carried out by an intermediary |
A selection of health institutions and services |
| Database recruitment is carried out as part of an interventional study |
No |
| Database objective | |
| Main objective | 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. |
| Inclusion criteria |
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. |
| Population type | |
| 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 covered |
Sick population |
| Pathology | E76 - Disorders of glycosaminoglycan metabolism |
| Gender |
Male Woman |
| Geography area |
National |
| Data collection | |
| Dates | |
| Date of first collection (YYYY or MM/YYYY) | 2017 |
| Size of the database | |
| Size of the database (number of individuals) |
< 500 individuals |
| Data | |
| Database activity |
Current data collection |
| Type of data collected |
Clinical data Declarative data Paraclinical data Biological data |
| Clinical data (detail) |
Direct physical measures Medical registration |
| Details of collected clinical data | Growth, signs, symptoms and complications for each system (cardiologic, pulmonary, neurologic, gastrologic,...), psychomotor milestones and cognitive evolution, molecular data ... |
| Declarative data (detail) |
Paper self-questionnaire Internet self-questionnaire Face to face interview |
| Details of collected declarative data | Vineland II, Quality of life questionnaires, Patient Global Impression of Improvement (PGI-I), .... |
| Paraclinical data (detail) | Echocardiography, cerebral imaging, pulmonary function testing, .... |
| Biological data (detail) | Urinary GAG, enzyme activities, before and during specific treatment, .... |
| Presence of a biobank |
No |
| Health parameters studied |
Health event/morbidity Health event/mortality Quality of life/health perception |
| Procedures | |
| Data collection method | eCRF in secure web access, secure cloud and HADS hosting |
| Classifications used | Drug dictionary (DCIs) |
| Quality procedure(s) used | Data Management Plan and Data Validation Plan. Continuous data management (automatic control rules and query system) |
| Participant monitoring |
Yes |
| Monitoring procedures |
Monitoring by convocation of the participant Monitoring by contact with the referring doctor |
| Followed pathology | E76 - Disorders of glycosaminoglycan metabolism |
| Links to administrative sources |
No |
| Promotion and access | |
| Promotion | |
| Access | |
| Presence of document that lists variables and coding procedures |
Yes |
| Terms of data access (charter for data provision, format of data, availability delay) |
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
|
| Access to aggregated data |
Access on specific project only |
| Access to individual data |
Access on specific project only |
