- Survey Observatory of Rare Diseases 2012
Head :
Heuyer Thomas, Observatoire des Maladies Rares
Last update : 04/02/2014 | Version : 1 | ID : 8422
| General | |
| Identification | |
| Detailed name | Survey Observatory of Rare Diseases 2012 |
| General Aspects | |
| Medical area |
Anatomy - Cytology Cardiology Endocrinology and metabolism Hematology Immunology Infectious diseases Neurology Ophthalmology Otolaryngology or ENT Pneumology Rare diseases |
| Health determinants |
Genetic Iatrogenic Social and psychosocial factors |
| Keywords | Diagnosis, announcement, medical treatments, financial difficulties, coordination between physicians, support, interpersonal surrounding, orphan medicinal products., monitoring, healthcare |
| Scientific investigator(s) (Contact) | |
| Name of the director | Heuyer |
| Surname | Thomas |
| Address | 96 rue Didot 75014 Paris |
| Phone | +33 (0)1 56 53 81 29 |
| theuyer@maladiesrares.org | |
| Unit | Observatoire des Maladies Rares |
| Organization | Maladies Rares Info |
| Collaborations | |
| Funding | |
| Funding status |
Mixed |
| Details | AFM-Téléthon (donations) Fondation Medtronic Fondation du LEEM |
| Governance of the database | |
| Sponsor(s) or organisation(s) responsible | Maladies Rares Info Services |
| Organisation status |
Both |
| Additional contact | |
| Main features | |
| Type of database | |
| Type of database |
Study databases |
| Study databases (details) |
Not-repeated cross-sectional studies (except case control studies) |
| 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 |
| Additional information regarding sample selection. |
The survey was proposed to each person contacting Maladies Rares Info Services (via email or phone) if he/she corresponded to the inclusion criteria. During this period, the survey was proposed to 361 people having contacted Maladies Rares Info Services. In parallel, the survey was proposed to 259 additional people taking part in the service "Meet the patients" and agreeing to be part of the different studies of Maladies Rares Info Services. |
| Database objective | |
| Main objective |
The objective of the Observatory is to provide to all skateholders involved in the fight against rare diseases reliable data highlighting important issues to which patients and their families are confronted. These data must allow not only to identify those issues but also to bring forward proposals to mitigate them. This survey covered three topics: - Communication about the diagnosis; - Pratical difficulties linked to drugs and other medical products; - Coordination among the healthcare workforce. |
| Inclusion criteria |
- Being a patient or a family member of the patient (parents, grand-parents, chilren, spouses); - Being affected by a rare disease (prevalence rate inferior or equal to one out of 2000 people); - Being able to participate in the survey (the survey was not proposed to people in distress, in a state of psychological fragility...) |
| 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) Elderly (65 to 79 years) Great age (80 years and more) |
| Population covered |
Sick population |
| Gender |
Male Woman |
| Geography area |
National |
| Detail of the geography area | France |
| Data collection | |
| Dates | |
| Date of first collection (YYYY or MM/YYYY) | 09/2012 |
| Date of last collection (YYYY or MM/YYYY) | 12/2012 |
| Size of the database | |
| Size of the database (number of individuals) |
< 500 individuals |
| Details of the number of individuals | 244 questionnaires were collected (137 paper forms and 107 online questionnaires) and 239 were included in the final analysis. |
| Data | |
| Database activity |
Data collection completed |
| Type of data collected |
Declarative data |
| Declarative data (detail) |
Paper self-questionnaire |
| Presence of a biobank |
No |
| Health parameters studied |
Health event/morbidity Health care consumption and services Quality of life/health perception Others |
| Care consumption (detail) |
Hospitalization Medical/paramedical consultation Medicines consumption |
| Other (detail) | Patient satisfaction. |
| Procedures | |
| Participant monitoring |
No |
| Links to administrative sources |
No |
| Promotion and access | |
| Promotion | |
| Link to the document | http://www.maladiesraresinfo.org/services-proposes/89.html |
| Access | |
| Terms of data access (charter for data provision, format of data, availability delay) | Contact the scientific investigator. |
| Access to aggregated data |
Access on specific project only |
| Access to individual data |
Access on specific project only |
