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  • Kodra, YllkaIst Super Sanita, Natl Ctr Rare Dis, I-00162 Rome, Italy (author)

Recommendations for Improving the Quality of Rare Disease Registries

  • Article/chapterEnglish2018

Publisher, publication year, extent ...

  • 2018-08-03
  • MDPI,2018
  • electronicrdacarrier

Numbers

  • LIBRIS-ID:oai:DiVA.org:uu-364837
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-364837URI
  • https://doi.org/10.3390/ijerph15081644DOI

Supplementary language notes

  • Language:English
  • Summary in:English

Part of subdatabase

Classification

  • Subject category:ref swepub-contenttype
  • Subject category:for swepub-publicationtype

Notes

  • Rare diseases (RD) patient registries are powerful instruments that help develop clinical research, facilitate the planning of appropriate clinical trials, improve patient care, and support healthcare management. They constitute a key information system that supports the activities of European Reference Networks (ERNs) on rare diseases. A rapid proliferation of RD registries has occurred during the last years and there is a need to develop guidance for the minimum requirements, recommendations and standards necessary to maintain a high-quality registry. In response to these heterogeneities, in the framework of RD-Connect, a European platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research, we report on a list of recommendations, developed by a group of experts, including members of patient organizations, to be used as a framework for improving the quality of RD registries. This list includes aspects of governance, Findable, Accessible, Interoperable and Reusable (FAIR) data and information, infrastructure, documentation, training, and quality audit. The list is intended to be used by established as well as new RD registries. Further work includes the development of a toolkit to enable continuous assessment and improvement of their organizational and data quality.

Subject headings and genre

Added entries (persons, corporate bodies, meetings, titles ...)

  • Weinbach, JeromeHop Trousseau, INSERM, RaDiCo,French Natl Programme Rare Dis Cohorts, Natl Inst Hlth & Med Res,UMR S933, F-75018 Paris, France (author)
  • Posada-de-la-Paz, ManuelRDR, ISCIII, Inst Rare Dis Res, Madrid 28029, Spain;CIBERER, Madrid 28029, Spain (author)
  • Coi, AlessioCNR, Inst Clin Physiol, I-56124 Pisa, Italy;FTGM, I-56124 Pisa, Italy (author)
  • Lemonnier, S. LydieRD Connect & Vaincre Mucoviscidose French Cyst Fi, Patient Advisory Council, F-75013 Paris, France (author)
  • van Enckevort, DavidUniv Groningen, UMCG, Dept Genet, NL-9700 RB Groningen, Netherlands (author)
  • Roos, MarcoLeiden Univ, Med Ctr, NL-2333 ZA Leiden, Netherlands (author)
  • Jacobsen, AnnikaLeiden Univ, Med Ctr, NL-2333 ZA Leiden, Netherlands (author)
  • Cornet, RonaldUniv Amsterdam, Amsterdam UMC, Amsterdam Publ Hlth Res Inst, Med Informat, NL-1105 AZ Amsterdam, Netherlands (author)
  • Ahmed, S. FaisalUniv Glasgow, Royal Hosp Children, Off Rare Condit, Glasgow G51 4TF, Lanark, Scotland (author)
  • Bros-Facer, VirginiePatient Advisory Council RD Connect & EURORDIS Ra, F-75014 Paris, France (author)
  • Popa, VeronicaRD Connect & MCT8 AHDS Fdn, Patient Advisory Council, Oklahoma City, OK 74464 USA (author)
  • Van Meel, MariekeRD Connect & NephcEurope Fdn, Patient Advisory Council, NL-2411 DW Bodegraven, Netherlands (author)
  • Renault, DanielPatient Advisory Council RD Connect, B-1200 Brussels, Belgium;FEDERG, B-1200 Brussels, Belgium (author)
  • von Gizycki, RainaldPatient Advisory Council RD Connect, D-53113 Bonn, Germany;PRO RETINA Deutschland, D-53113 Bonn, Germany (author)
  • Santoro, MicheleCNR, Inst Clin Physiol, I-56124 Pisa, Italy;FTGM, I-56124 Pisa, Italy (author)
  • Landais, PaulHop Trousseau, INSERM, RaDiCo,French Natl Programme Rare Dis Cohorts, Natl Inst Hlth & Med Res,UMR S933, F-75018 Paris, France;Montpellier Univ, Clin Res Inst, EA2415, F-34093 Montpellier, France (author)
  • Torreri, PaolaIst Super Sanita, Natl Ctr Rare Dis, I-00162 Rome, Italy (author)
  • Carta, ClaudioIst Super Sanita, Natl Ctr Rare Dis, I-00162 Rome, Italy (author)
  • Mascalzoni, Deborah,1973-Uppsala universitet,Centrum för forsknings- och bioetik(Swepub:uu)debma696 (author)
  • Gainotti, SabinaIst Super Sanita, Off President, Bioeth Unit, I-00162 Rome, Italy (author)
  • Lopez, EstrellaRDR, ISCIII, Inst Rare Dis Res, Madrid 28029, Spain;CIBERER, Madrid 28029, Spain (author)
  • Ambrosini, AnnaFdn Telethon, I-20129 Milan, Italy (author)
  • Muller, HeimoMed Univ Graz, Diagnost & Res Ctr Mol BioMed, A-8010 Graz, Austria (author)
  • Reis, RobertMed Univ Graz, Diagnost & Res Ctr Mol BioMed, A-8010 Graz, Austria (author)
  • Bianchi, FabrizioCNR, Inst Clin Physiol, I-56124 Pisa, Italy;FTGM, I-56124 Pisa, Italy (author)
  • Rubinstein, Yaffa R.NIH, Natl Lib Med, Bethesda, MD 20892 USA (author)
  • Lochmueller, HannsUniv Freiburg, Fac Med, Dept Neuropediat, D-79160 Freiburg, Germany;Univ Freiburg, Fac Med, Muscle Disorders Med Ctr, D-79160 Freiburg, Germany;BIST, CRG, CNAG, Barcelona 08028, Spain (author)
  • Mueller, Heimo (author)
  • Taruscio, DomenicaIst Super Sanita, Natl Ctr Rare Dis, I-00162 Rome, Italy (author)
  • Ist Super Sanita, Natl Ctr Rare Dis, I-00162 Rome, ItalyHop Trousseau, INSERM, RaDiCo,French Natl Programme Rare Dis Cohorts, Natl Inst Hlth & Med Res,UMR S933, F-75018 Paris, France (creator_code:org_t)

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  • In:International Journal of Environmental Research and Public Health: MDPI15:81661-78271660-4601

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