메뉴 건너뛰기




Volumn 28, Issue 2, 2020, Pages 165-173

Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; DISEASE BURDEN; EPIDEMIOLOGICAL DATA; EUROPEAN UNION; EVIDENCE BASED PRACTICE; HEALTH CARE SYSTEM; HUMAN; PREVALENCE; PRIORITY JOURNAL; RARE DISEASE; REFERENCE DATABASE; FACTUAL DATABASE; GENETIC DISORDER; GLOBAL HEALTH;

EID: 85073813221     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/s41431-019-0508-0     Document Type: Article
Times cited : (781)

References (45)
  • 1
    • 84959017341 scopus 로고    scopus 로고
    • Public health and rare diseases: oxymoron no more
    • PID: 26766846
    • Valdez R, Ouyang L, Bolen J. Public health and rare diseases: oxymoron no more. Prev Chronic Dis. 2016;13:E05.
    • (2016) Prev Chronic Dis , vol.13 , pp. E05
    • Valdez, R.1    Ouyang, L.2    Bolen, J.3
  • 2
  • 3
    • 65349092249 scopus 로고    scopus 로고
    • How did uncommon disorders become ‘rare diseases’? History of a boundary object
    • Huyard C. How did uncommon disorders become ‘rare diseases’? History of a boundary object. Soc Health Illn. 2009;31:463–77.
    • (2009) Soc Health Illn , vol.31 , pp. 463-477
    • Huyard, C.1
  • 4
    • 85078555333 scopus 로고    scopus 로고
    • Regulation (EC) N°141/2000 of the European Parliament and of the Council of 16 December 1999 on orphan medicinal products, Accessed 15 Jan 2019
    • European Union. Regulation (EC) N°141/2000 of the European Parliament and of the Council of 16 December 1999 on orphan medicinal products. 2000. http://eurlex.europa.eu/LexUriServ/LexUriServ.do?uri=OJ:L:2000:018:0001:0005:EN:PDF. Accessed 15 Jan 2019.
    • (2000)
  • 6
    • 85078554985 scopus 로고    scopus 로고
    • Directive 2011/24/EU of the European Parliament and of the Council of 9 March 2011 on the application of patients’ rights in cross-border healthcare, Accessed 15 Jan 2019
    • European Union. Directive 2011/24/EU of the European Parliament and of the Council of 9 March 2011 on the application of patients’ rights in cross-border healthcare. 2011. https://eur-lex.europa.eu/LexUriServ/LexUriServ.do?uri=OJ:L:2000:018:0001:0005:EN:PDF. Accessed 15 Jan 2019.
    • (2011)
  • 7
    • 84942293513 scopus 로고    scopus 로고
    • Rare disease terminology and definitions-A systematic global review: report of the ISPOR rare disease special interest group
    • Richter T, Nestler-Parr S, Babela R, Khan ZM, Tesoro T, Molsen E, et al. Rare disease terminology and definitions-A systematic global review: report of the ISPOR rare disease special interest group. Value Health. 2015;18:906–14.
    • (2015) Value Health. , vol.18 , pp. 906-914
    • Richter, T.1    Nestler-Parr, S.2    Babela, R.3    Khan, Z.M.4    Tesoro, T.5    Molsen, E.6
  • 9
    • 85078552586 scopus 로고
    • Jan 4,, Accessed 15 Jan 2019
    • National Institute of Health. Public Law 97–414 97th Congress. Jan 4, 1983. https://history.nih.gov/research/downloads/PL97-414.pdf. Accessed 15 Jan 2019.
    • (1983) Public Law 97–414 97Th Congress
  • 10
    • 84862339238 scopus 로고    scopus 로고
    • Rare diseases, orphan drugs, and their regulation in Asia: current status and future perspectives
    • PID: 25343064
    • Song P, Gao J, Inagaki Y, Kokudo N, Tang W. Rare diseases, orphan drugs, and their regulation in Asia: current status and future perspectives. Intractable Rare Dis Res. 2012;1:3–9.
    • (2012) Intractable Rare Dis Res , vol.1 , pp. 3-9
    • Song, P.1    Gao, J.2    Inagaki, Y.3    Kokudo, N.4    Tang, W.5
  • 11
    • 85070414381 scopus 로고    scopus 로고
    • Accessed 15 Jan 2019
    • Department of Health. Therapeutic goods administration. 2018. https://www.tga.gov.au/publication/orphan-drug-designation-eligibility-criteria. Accessed 15 Jan 2019.
    • (2018) Therapeutic Goods Administration
  • 12
    • 85073824635 scopus 로고    scopus 로고
    • Accessed 15 Jan 2019
    • Taiwan Foundation for rare disorders. About rare diseases. 2018. http://www.tfrd.org.tw. Accessed 15 Jan 2019.
    • (2018) About Rare Diseases
  • 13
    • 0033846973 scopus 로고    scopus 로고
    • Development of orphan drugs in Japan: effects of a support system for development of orphan drugs in Japan
    • Makoto S, Kiyohito N. Development of orphan drugs in Japan: effects of a support system for development of orphan drugs in Japan. Drug Inf J. 2000;34:829–37.
    • (2000) Drug Inf J , vol.34 , pp. 829-837
    • Makoto, S.1    Kiyohito, N.2
  • 14
    • 85026848448 scopus 로고    scopus 로고
    • Defining rare diseases in China
    • Cui Y, Han J. Defining rare diseases in China. Intractable Rare Dis Res. 2017;6:148–9.
    • (2017) Intractable Rare Dis Res. , vol.6 , pp. 148-149
    • Cui, Y.1    Han, J.2
  • 15
    • 85017330959 scopus 로고    scopus 로고
    • A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseases
    • Leadley RM, Lang S, Misso K, Bekkering T, Ross J, Akiyama T, et al. A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseases. Orphanet J Rare Dis. 2014;9:173.
    • (2014) Orphanet J Rare Dis. , vol.9
    • Leadley, R.M.1    Lang, S.2    Misso, K.3    Bekkering, T.4    Ross, J.5    Akiyama, T.6
  • 16
    • 80052809739 scopus 로고    scopus 로고
    • Use of variability in national and regional data to estimate the prevalence of lymphangioleiomyomatosis
    • COI: 1:STN:280:DC%2BC3MbjtVemtw%3D%3D
    • Harknett EC, Chang WY, Byrnes S, Johnson J, Lazor R, Cohen MM, et al. Use of variability in national and regional data to estimate the prevalence of lymphangioleiomyomatosis. QJM. 2011;104:971–9.
    • (2011) QJM. , vol.104 , pp. 971-979
    • Harknett, E.C.1    Chang, W.Y.2    Byrnes, S.3    Johnson, J.4    Lazor, R.5    Cohen, M.M.6
  • 17
    • 84931750184 scopus 로고    scopus 로고
    • Geographic variations in epidemiology of two autoimmune bullous diseases: pemphigus and bullous pemphigoid
    • COI: 1:CAS:528:DC%2BC2MXht12qs7Y%3D
    • Alpsoy E, Akman-Karakas A, Uzun S. Geographic variations in epidemiology of two autoimmune bullous diseases: pemphigus and bullous pemphigoid. Arch Dermatol Res. 2015;307:291–8.
    • (2015) Arch Dermatol Res. , vol.307 , pp. 291-298
    • Alpsoy, E.1    Akman-Karakas, A.2    Uzun, S.3
  • 18
    • 84906716305 scopus 로고    scopus 로고
    • Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society
    • COI: 1:CAS:528:DC%2BC28XitVyhtbrI
    • Cuchel M, Bruckert E, Ginsberg HN, Raal FJ, Santos RD, Hegele RA, et al. Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society. Eur Heart J. 2014;35:2146–57.
    • (2014) Eur Heart J. , vol.35 , pp. 2146-2157
    • Cuchel, M.1    Bruckert, E.2    Ginsberg, H.N.3    Raal, F.J.4    Santos, R.D.5    Hegele, R.A.6
  • 19
    • 84877602774 scopus 로고    scopus 로고
    • Diagnosis, misdiagnosis, and associated diseases of achalasia in children and adolescents: a twelve-year single center experience
    • Hallal C, Kieling CO, Nunes DL, Ferreira CT, Peterson G, Barros SG, et al. Diagnosis, misdiagnosis, and associated diseases of achalasia in children and adolescents: a twelve-year single center experience. Pediatr Surg Int. 2012;28:1211–7.
    • (2012) Pediatr Surg Int , vol.28 , pp. 1211-1217
    • Hallal, C.1    Kieling, C.O.2    Nunes, D.L.3    Ferreira, C.T.4    Peterson, G.5    Barros, S.G.6
  • 20
    • 84940791702 scopus 로고    scopus 로고
    • Rare disease policies to improve care for patients in Europe
    • COI: 1:CAS:528:DC%2BC2MXjs1Orurw%3D
    • Rodwell C, Aymé S. Rare disease policies to improve care for patients in Europe. Biochim Biophys Acta. 2015;1852:2329.
    • (2015) Biochim Biophys Acta. , vol.1852 , pp. 2329
    • Rodwell, C.1    Aymé, S.2
  • 21
    • 85078549817 scopus 로고    scopus 로고
    • September 2018, V1.1, Accessed 15 Jan 2019
    • Orphanet—2017 activity report, Orphanet report series, reports collection, September 2018 (V1.1). 2018. https://www.orpha.net/orphacom/cahiers/docs/GB/ActivityReport2017.pdf. Accessed 15 Jan 2019.
    • (2018) 2017 Activity Report, Orphanet Report Series, Reports Collection
  • 22
    • 85073822042 scopus 로고    scopus 로고
    • Communication from the commission to the European parliament, the council, the European economic and social committee and the committee of the regions on rare diseases: Europe’s challenges, Accessed 15 Jan 2019
    • European Commission. Communication from the commission to the European parliament, the council, the European economic and social committee and the committee of the regions on rare diseases: Europe’s challenges. 2008. https://ec.europa.eu/health/ph_threats/non_com/docs/rare_com_en.pdf. Accessed 15 Jan 2019.
    • (2008)
  • 23
    • 85073833156 scopus 로고    scopus 로고
    • Accessed 15 Jan 2019
    • IRDiRC. IRDiRC Recognized Resources. 2018. http://www.irdirc.org/research/irdirc-recognized-resources/current-irdirc-recognized-resources/. Accessed 15 Jan 2019.
    • (2018) Irdirc Recognized Resources
  • 24
    • 85073826079 scopus 로고    scopus 로고
    • Accessed 15 Jan 2019
    • ELIXIR. ELIXIR core data resources. 2017. https://www.elixir-europe.org/platforms/data/core-data-resources. Accessed 15 Jan 2019.
    • (2017) ELIXIR Core Data Resources
  • 25
    • 84864358886 scopus 로고    scopus 로고
    • Representation of rare diseases in health information systems: The orphanet approach to serve a wide range of end users
    • Rath A, Olry A, Dhombres F, Brandt MM, Urbero B, Ayme S. Representation of rare diseases in health information systems: the Orphanet approach to serve a wide range of end users’. Hum Mutat. 2012;33:803–8.
    • (2012) Human Mutation , vol.33 , Issue.5 , pp. 803-808
    • Rath, A.1    Olry, A.2    Dhombres, F.3    Brandt, M.M.4    Urbero, B.5    Ayme, S.6
  • 26
    • 85078550133 scopus 로고    scopus 로고
    • Procedural document on the inventory of rare diseases
    • Orphanet, April 2017, Number 01., Accessed 15 Jan 2019
    • Orphanet. Procedural document on the inventory of rare diseases, Orphanet, April 2017, Number 01. 2017. http://www.orpha.net/orphacom/cahiers/docs/GB/eproc_disease_inventory_PR_R1_Nom_04.pdf. Accessed 15 Jan 2019.
    • (2017) Orphanet
  • 27
    • 85078556341 scopus 로고    scopus 로고
    • February 2019, Number 01., Accessed 8 Feb 2019
    • Orphanet. Procedural document on epidemiology of rare diseases in Orphanet, February 2019, Number 01. 2019. https://www.orpha.net/orphacom/cahiers/docs/GB/Epidemiology_in_Orphanet_R1_Ann_Epi_EP_05.pdf. Accessed 8 Feb 2019.
    • (2019) Procedural document on epidemiology of rare diseases in Orphanet
  • 29
    • 85078550794 scopus 로고    scopus 로고
    • Accessed 1 Oct 2018
    • Orphanet. Free datasets powered by Orphanet. 2018. http://www.orphadata.org/cgi-bin/index.php. Accessed 1 Oct 2018.
    • (2018) Free Datasets Powered by Orphanet
  • 30
    • 85059980974 scopus 로고    scopus 로고
    • Accessed 5 Oct
    • Population, Total | Data. n.d. https://data.worldbank.org/indicator/SP.POP.TOTL?year_high_desc=true. Accessed 5 Oct 2018.
    • (2018) Population, Total | Data
  • 31
    • 85078550261 scopus 로고    scopus 로고
    • First population estimates EU population up to almost 512 million at
    • 1 January 2017, Accessed 15 Jan 2019
    • Eurostat. First population estimates EU population up to almost 512 million at 1 January 2017 Increase driven by migration. 2017. https://ec.europa.eu/eurostat/documents/2995521/8102195/3-10072017-AP-EN.pdf/a61ce1ca-1efd-41df-86a2-bb495daabdab. Accessed 15 Jan 2019.
    • Increase Driven by Migration. 2017.
  • 32
    • 0004245789 scopus 로고
    • Rockville, MD: Public Health Service, US Department of Health and Human Services
    • NCOD (National Commission on Orphan Diseases). Report of the National Commission in Orphan Diseases. Rockville, MD: Public Health Service, US Department of Health and Human Services; 1989.
    • (1989) Report of the National Commission in Orphan Diseases
  • 34
    • 84899445465 scopus 로고    scopus 로고
    • A population-based registry as a source of health indicators for rare diseases: the ten-year experience of the Veneto Region’s rare diseases registry
    • Mazzucato M, Visonà Dalla Pozza L, Manea S, Minichiello C, Facchin P. A population-based registry as a source of health indicators for rare diseases: the ten-year experience of the Veneto Region’s rare diseases registry. Orphanet J Rare Dis 2014;9:37–48.
    • (2014) Orphanet J Rare Dis , vol.9 , pp. 37-48
    • Mazzucato, M.1    Visonà Dalla Pozza, L.2    Manea, S.3    Minichiello, C.4    Facchin, P.5
  • 35
    • 85021706667 scopus 로고    scopus 로고
    • The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort
    • Walker CE, Mahede T, Davis G, Miller LJ, Girschik J, Brameld K, et al. The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort. Genet Med. 2017;19:546–52.
    • (2017) Genet Med , vol.19 , pp. 546-552
    • Walker, C.E.1    Mahede, T.2    Davis, G.3    Miller, L.J.4    Girschik, J.5    Brameld, K.6
  • 36
    • 85052724880 scopus 로고    scopus 로고
    • Healthcare burden of rare diseases in Hong Kong - adopting ORPHAcodes in ICD-10 based healthcare administrative datasets
    • Chiu ATG, Chung CCY, Wong WHS, Lee SL, Chung BHY. Healthcare burden of rare diseases in Hong Kong - adopting ORPHAcodes in ICD-10 based healthcare administrative datasets. Orphanet J Rare Dis. 2018;13:147.
    • (2018) Orphanet J Rare Dis , vol.13
    • Chiu, A.T.G.1    Chung, C.C.Y.2    Wong, W.H.S.3    Lee, S.L.4    Chung, B.H.Y.5
  • 38
    • 85078557097 scopus 로고    scopus 로고
    • January 2019, number 2: diseases listed by decreasing prevalence, incidence or number of published cases, Accessed 30 July 2019
    • Orphanet. Prevalence of rare diseases: bibliographic data, Orphanet report series, rare diseases collection, January 2019, number 2: diseases listed by decreasing prevalence, incidence or number of published cases. 2019. http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_decreasing_prevalence_or_cases.pdf. Accessed 30 July 2019.
    • (2019) Prevalence of Rare Diseases: Bibliographic Data, Orphanet Report Series, Rare Diseases Collection
  • 42
    • 85040616136 scopus 로고    scopus 로고
    • The prevalence of autosomal dominant polycystic kidney disease (ADPKD): a meta-analysis of European literature and prevalence evaluation in the Italian province of Modena suggest that ADPKD is a rare and underdiagnosed condition
    • Solazzo A, Testa F, Giovanella S, Busutti M, Furci L, Carrera P, et al. The prevalence of autosomal dominant polycystic kidney disease (ADPKD): a meta-analysis of European literature and prevalence evaluation in the Italian province of Modena suggest that ADPKD is a rare and underdiagnosed condition. PLoS ONE. 2018;13:e0190430.
    • (2018) PLoS ONE. , vol.13
    • Solazzo, A.1    Testa, F.2    Giovanella, S.3    Busutti, M.4    Furci, L.5    Carrera, P.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.