1,830
Views
2
CrossRef citations to date
0
Altmetric
Original Research

How many zebras are there, and where are they hiding in medical literature? A literature review of publications on rare diseases

, &
Pages 513-519 | Received 07 Aug 2019, Accepted 21 Oct 2019, Published online: 01 Nov 2019

References

  • Richter T, Nestler-Parr S, Babela R, et al. Rare disease terminology and definitions—a systematic global review: report of the ISPOR rare disease special interest group. Value Health. 2015;18(6):906–914.
  • Moliner AM, Waligora J. The European union policy in the field of rare diseases. Adv Exp Med Biol. 2017;1031:561–587.
  • Rare diseases: Common issues in drug development: Guidance for industry. Silver Spring, MD: United States Department of Health and Human Services, Food and Drug Administration; 2019 [cited 2019 Apr 11]; Available from: https://www.fda.gov/downloads/Drugs/GuidanceComplianceRegulatoryInformation/Guidances/UCM629579.pdf
  • Auvin S, Irwin J, Abi-Aad P, et al. The problem of rarity: estimation of prevalence in rare disease. Value Health. 2018;21(5):501–507.
  • de Vrueh R, Baekelandt ERF, de Haan JMH. Background paper 6.19: rare diseases - update. Geneva, Switzerland; 2013.
  • Eurordis. Rare diseases: understanding this public health priority; 2005 [cited 2019 Apr 11]. Available from: https://www.eurordis.org/IMG/pdf/princeps_document-EN.pdf
  • Knight AW, Senior TP. The common problem of rare disease in general practice. Med J Aust. 2006;185(2):82–83.
  • World Health Organization. Diabetes Geneva, Switzerland; 2018 [cited 2019 Apr 19]. Available from: https://www.who.int/news-room/fact-sheets/detail/diabetes
  • Arline K, Treuting RL, Bravo R, et al., editors. Rare isn’t rare: rare cancers compose over 50% of all U.S. diagnoses. American Association for Cancer Research Annual Meeting; 2018; Chicago, IL, USA: American Association for Cancer Research.
  • Narayanan G. Rare diseases: a common problem. J Rare Dis Diag Ther. 2015;1(15):1–3.
  • Therapeutics for rare and neglected diseases (TRND). United States Department of Health & Human Services, National Institutes of Health; 2019 [cited 2019 Apr 11]; Available from: https://ncats.nih.gov/trnd
  • Aitken M, Kleinrock M Orphan drugs in the United States: Growth trends in rare disease treatments. Parsippany, NJ; 2018.
  • Schieppati A, Henter JI, Daina E, et al. Why rare diseases are an important medical and social issue. Lancet. 2008;371(9629):2039–2041.
  • von der Lippe C, Diesen PS, Feragen KB. Living with a rare disorder: a systematic review of the qualitative literature. Mol Genet Genomic Med. 2017;5(6):758–773.
  • Babac A, Litzkendorf S, Schmidt K, et al. Shaping an effective health information website on rare diseases using a group decision-making tool: inclusion of the perspectives of patients, their family members, and physicians. Interact J Med Res. 2017;6(2):e23.
  • Kosteniuk JG, Morgan DG, D’Arcy CK. Use and perceptions of information among family physicians: sources considered accessible, relevant, and reliable. J Med Libr Assoc. 2013;101(1):32–37.
  • Hall JG. The role of patient advocacy/parent support groups. S Afr Med J. 2013;103(12 Suppl 1):1020–1022.
  • Pauer F, Litzkendorf S, Gobel J, et al. Rare diseases on the internet: an assessment of the quality of online information. J Med Internet Res. 2017;19(1):e23.
  • Litzkendorf S, Babac A, Rosenfeldt D. et al. Information needs of people with rare diseases - what information do patients and their relatives require? J Rare Sis Diag Ther. 2016;2(2):40.
  • Patient-focused drug development: collecting comprehensive and representative input - guidance for industry, food and drug administration staff, and other stakeholders. Silver Spring, MD: United States Department of Health & Human Services, Food and Drug Administration; 2018 [cited 2019 Apr 19]. Available from: https://www.fda.gov/media/113653/download