title: Delphi approach to select rare diseases for a European representative survey. The BURQOL-RD study.
abstract: OBJECTIVE
  The BURQOL-RD project is intended to develop a disease based model capable of quantifying the socio-economic burden and health-related quality of life for patients with rare diseases (RDs) and their caregivers in Europe. We described the methodology used to select a set of 10 RDs to be approached in a pilot study.
  
  
  METHODS
  BURQOL-RD project includes 23 partners from 8 European countries: Spain, UK, France, Germany, Sweden, Italy, Hungary and Bulgaria. A two-round Delphi panels in combination with Carroll diagram was used to generate consensus in the selection of the 10 RDs among the project participants.
  
  
  RESULTS
  The two Delphi rounds yielded a prioritised list, to which the Carroll diagram was applied, taking into account three determinants: prevalence, availability of effective treatment and need for carer. The final set of RD to be studied was obtained: cystic fibrosis, Prader-Willi syndrome, haemophilia, duchenne muscular dystrophy, epidermolysis bullosa, fragile X syndrome, scleroderma, mucopolysaccharidosis, juvenile idiopathic arthritis and histiocytosis.
  
  
  CONCLUSIONS
  This methodology permitted the generation of an equilibrated set of RDs for the pilot study of BURQOL-RD project. The model will be suitable for application in a wide range of RDs.
authors.affiliation: Canary Islands Foundation for Health and Research (FUNCIS), Hospital Universitario de Gran Canaria Dr. Negrin, C/Barranco de la Ballena s/n, 35010 Las Palmas de Gran Canaria, Spain. renata.linertova@sescs.es
authors.forename: Renata
authors.initials: R
authors.lastname: Linertová
authors.forename: Pedro
authors.initials: P
authors.lastname: Serrano-Aguilar
authors.forename: Manuel
authors.initials: M
authors.lastname: Posada-de-la-Paz
authors.forename: Manuel
authors.initials: M
authors.lastname: Hens-Pérez
authors.forename: Panos
authors.initials: P
authors.lastname: Kanavos
authors.forename: Domenica
authors.initials: D
authors.lastname: Taruscio
authors.forename: Arrigo
authors.initials: A
authors.lastname: Schieppati
authors.forename: Rumen
authors.initials: R
authors.lastname: Stefanov
authors.forename: Márta
authors.initials: M
authors.lastname: Péntek
authors.forename: Claudia
authors.initials: C
authors.lastname: Delgado
authors.forename: Johann-Matthias Graf
authors.initials: JM
authors.lastname: von der Schulenburg
authors.forename: Ulf
authors.initials: U
authors.lastname: Persson
authors.forename: Karine
authors.initials: K
authors.lastname: Chevreul
authors.forename: Giovanni
authors.initials: G
authors.lastname: Fattore
authors.forename: Melany
authors.initials: M
authors.lastname: Worbes-Cerezo
authors.forename: Mark
authors.initials: M
authors.lastname: Sefton
authors.forename: Julio
authors.initials: J
authors.lastname: López-Bastida
mesh_terms: D017281:Cost of Illness; D003697:Delphi Technique; D005060:Europe / Q000453:epidemiology; D006801:Humans; D010865:Pilot Projects; D011788:Quality of Life; D035583:Rare Diseases / Q000191:economics / Q000453:epidemiology* / Q000523:psychology