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 Journal of Rare Diseases

Volumn 9, Issue 1, 2014, Pages

  Mazzucato, Monica ^a   Visonà Dalla Pozza, Laura ^a   Manea, Silvia ^a   Minichiello, Cinzia ^a   Facchin, Paola ^a  

^a Rare Diseases Coordinating Center Rare Diseases Registry   (Italy)

Author keywords

Epidemiology; Public health indicators; Rare diseases; Registry

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; CARDIOVASCULAR DISEASE; CENTRAL NERVOUS SYSTEM DISEASE; CHILD; CONGENITAL MALFORMATION; CONNECTIVE TISSUE DISEASE; DEATH; DIABETES MELLITUS; DIGESTIVE SYSTEM DISEASE; ENDOCRINE DISEASE; EYE DISEASE; FATALITY; FEMALE; HEALTH CARE PLANNING; HEALTH STATUS INDICATOR; HEMATOLOGIC DISEASE; HUMAN; IMMUNE DEFICIENCY; INCIDENCE; INFANT; INFANT MORTALITY; INFECTION; ITALY; LIFE EXPECTANCY; LIVE BIRTH; MAJOR CLINICAL STUDY; MALE; METABOLIC DISORDER; MUSCULOSKELETAL DISEASE; NEOPLASM; NEWBORN; NEWBORN MORTALITY; PARASITOSIS; PERIPHERAL NEUROPATHY; RARE DISEASE; SKIN DISEASE; UROGENITAL TRACT DISEASE; VERY ELDERLY;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; ITALY; MALE; MIDDLE AGED; POPULATION SURVEILLANCE; RARE DISEASES; REGISTRIES; YOUNG ADULT;

EID: 84899445465     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-9-37     Document Type: Article

References (64)

1. Report on the State of the Art of Rare Disease Activities in Europe. Aymé S, Rodwell C, 2013 http://www.eucerd.eu/upload/file/Reports/ 2013ReportStateofArtRDActivities.pdf (accessed, August 2013)
2. Rare diseases social epidemiology: analysis of inequalities. Kole A, Faurisson F, Adv Exp Med Biol 2010 686 223 50 10.1007/978-90-481-9485-8-14 20824449
3. Cost of illness and economic evaluation in rare diseases. López-Bastida J, Oliva-Moreno J, Adv Exp Med Biol 2010 686 273 82 10.1007/978-90-481-9485-8-16 20824451
4. Rare diseases in disabled children: an epidemiological survey. Guillem P, Cans C, Robert-Gnansia E, Aymé S, Jouk PS, Arch Dis Child 2008 93 115 8 10.1136/adc.2006.104455 17942587
5. Rare diseases epidemiology research. de la Paz MP, Villaverde-Hueso A, Alonso V, János S, Zurriaga O, Pollán M, Abaitua-Borda I, Adv Exp Med Biol 2010 686 17 39 10.1007/978-90-481-9485-8-2 20824437
6. World Health Organization, The global burden of diseases-2004 Update Geneva: World Health Organization 2008 http://www.who.int/healthinfo/global- burden-disease/GBD-report-2004update-full.pdf
7. Reducing risks to health: what can we learn from the Global Burden of Disease 2010 Study? Lopez AD, Int J Public Health in press
8. Rare diseases. European Commission, http://ec.europa.eu/research/health/ medical-research/rare-diseases/index-en.html
9. European Parliament, Decision No 1295/1999/EC of the European Parliament and of the Council of 29 April 1999 adopting a programme of Community action on rare diseases within the framework for action in the field of public health (1999 to 2003) 1999 http://eur-lex.europa.eu/legal-content/EN/TXT/?qid= 1395750802170&uri=CELEX:31999D1295
10. United States Food and Drug Administration, Orphan Drug Act, Pub L. No. 97-414 96 Stat. 2049 1982
11. - 35 years of Japanese policy on rare diseases. Hayashi S, Umeda T, Lancet 2008 372 889 90 18790305
12. Rare diseases and legislation in China. Wang JB, Guo JJ, Yang L, Zhang YD, Sun ZQ, Zhang YJ, Lancet 2010 375 708 9 10.1016/S0140-6736(10)60240-1 20189012
13. Nanbyou.or.jp, The Specified Disease Treatment Research Program ("Tokutei Shikkan Chiryo Kenkyu Jigyo") The Specified Disease Treatment Research Program ("Tokutei Shikkan Chiryo Kenkyu Jigyo") http://www.nanbyou.or.jp/english/index.htm
14. WHO, International Classification of Diseases. 10th revision http://www.who.int/classifications/apps/icd/icd10online/
15. Estimating rare disease prevalence from administrative hospitalization databases. Ward MM, Epidemiology 2005 16 270 1 10.1097/01.ede.0000153643.88019. 92 15703546
16. Rare diseases knowledge management: the contribution of proximity measurements in OntoOrpha and OMIM. Aymé S, Charlet J, Furst F, Kuntz P, Trichet F, Dhombres F, Stud Health Technol Inform 2012 180 88 92 22874158
17. WHO International Classification of Diseases (ICD) Revision Process: incorporating rare diseases into the classification scheme: state of art. Aymé S, Rath A, Bellet B, Orphanet J Rare Dis 2010 5 SUPPL. 1 1 20074341
18. 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, Hum Mutat 2012 33 5 803 8 10.1002/humu.22078 22422702
19. Council Recommendation on an action in the field of rare diseases 2009 http://eur-lex.europa.eu/LexUriServ/LexUriServ.do?uri=OJ:C:2009:151:0007:0010: EN:PDF
20. The case for a global rare-diseases registry. Forrest CB, Bartek RJ, Rubinstein Y, Groft SC, Lancet 2011 377 9771 1057 9 10.1016/S0140-6736(10)60680- 0 20674966
21. Creating a global rare disease patient registry linked to a rare diseases biorepository database: Rare Disease-HUB (RD-HUB). Rubinstein YR, Groft SC, Bartek R, Brown K, Christensen RA, Collier E, Farber A, Farmer J, Ferguson JH, Forrest CB, Lockhart NC, McCurdy KR, Moore H, Pollen GB, Richesson R, Miller VR, Hull S, Vaught J, Contemp Clin Trials 2010 31 394 404 10.1016/j.cct.2010.06.007 20609392
22. Orphanet Report Series-Disease Registries in Europe 2013 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf
23. Last JM, A dictionary of epidemiology New York: Oxford University Press 2001
24. The prevalence of congenital anomalies in Europe. Dolk H, Loane M, Garne E, Adv Exp Med Biol 2010 686 349 364 10.1007/978-90-481-9485-8-20 20824455
25. Population-based surveillance for rare congenital and inherited disorders: models and challenges. Jackson JM, Crider KS, Olney RS, Adv Exp Med Biol 2010 686 133 50 10.1007/978-90-481-9485-8-9 20824444
26. EUCERD, Core Recommendations on Rare Disease Patient Registration and Data Collection 2013 http://www.eucerd.eu/wp-content/uploads/2013/06/EUCERD- Recommendations-RDRegistryDataCollection-adopted.pdf
27. EUCERD Report, Health Indicators for Rare Diseases II -Conceptual framework for the use of health indicators for monitoring quality of care 2011 http://www.eucerd.eu/?post-type=document&p=1353
28. Italian Ministry of Health, Ministerial Decree 18th May 2001 No 279. Regolamento di istituzione della rete nazionale delle malattie rare e di esenzione dalla partecipazione al costo delle relative prestazioni sanitarie, ai sensi dell'articolo 5, comma 1, lettera b), del decreto legislativo 29 aprile 1998, n. 124 Gazzetta Ufficiale 2001 160 180
29. Italian Legislative Decree n. 196, 30th June DataProtectionCode2003- Consolidated Text in Force http://www.garanteprivacy.it/web/guest/home/docweb/-/ docweb-display/docweb/1311248
30. Epidemiology of haemoglobin disorders in Europe: an overview. Modell B, Darlison M, Birgens H, Cario H, Faustino P, Giordano PC, Gulbis B, Hopmeier P, Lena-Russo D, Romao L, Theodorsson E, Scand J Clin Lab Invest 2007 67 1 39 69 10.1080/00365510601046557 17365984
31. Hospitalization of children with sickle cell disease in a region with increasing immigration rates. Colombatti R, Dalla Pozza LV, Mazzucato M, Sainati L, Pierobon M, Facchin P, Haematologica 2008 93 3 463 4 10.3324/haematol.11766 18310539
32. Newborn screening conditions: What we know, what we do not know, and how we will know it. Levy HL, Genet Med 2010 12 12 SUPPL. 213 4 21150366
33. Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 2-From screening laboratory results to treatment, follow-up and quality assurance. Burgard P, Rupp K, Lindner M, Haege G, Rigter T, Weinreich SS, Loeber JG, Taruscio D, Vittozzi L, Cornel MC, Hoffmann GF, J Inherit Metab Dis 2012 5 613 625
34. Long-term follow-up in newborn screening: A systems approach for improving health outcomes. Lloyd-Puryear MA, Brower A, Genet Med 2010 12 12 SUPPL. 256 60 21150372
35. Long-term follow-up of newborn screening patients. Berry SA, Lloyd-Puryear MA, Watson MS, Genet Med 2010 12 12 SUPPL. 267 8 21150374
36. Rare neurological diseases: a united approach is needed. The Lancet Neurology, Lancet Neurol 2011 10 2 109 10.1016/S1474-4422(11)70001-1 21256450
37. 20-year survival of children born with congenital anomalies: a population-based study. Tennant PW, Pearce MS, Bythell M, Rankin J, Lancet 2010 375 9715 649 56 10.1016/S0140-6736(09)61922-X 20092884
38. Survival of children born with congenital anomalies. Dastgiri S, Gilmour WH, Stone DH, Arch Dis Child 2003 88 5 391 4 10.1136/adc.88.5.391 12716706
39. Inborn errors of metabolism in the Italian pediatric population: a national retrospective survey. Dionisi-Vici C, Rizzo C, Burlina AB, Caruso U, Sabetta G, Uziel G, Abeni D, J Pediatr 2002 140 3 321 7 10.1067/mpd.2002.122394 11953730
40. Inborn errors of metabolism: an update on epidemiology and on neonatal-onset hyperammonemia. Deodato F, Boenzi S, Rizzo C, Abeni D, Caviglia S, Picca S, Bartuli A, Dionisi-Vici C, Acta Paediatr SUPPL. 2004 93 445 18 21 15176714
41. Transition to adult health care for adolescents with spina bifida: research issues. Sawyer SM, Macnee S, Dev Disabil Res Rev 2010 16 1 60 5 10.1002/ddrr.98 20419772
42. Cystic fibrosis and transition to adult medical care. Tuchman LK, Schwartz LA, Sawicki GS, Britto MT, Pediatrics 2010 125 3 566 73 10.1542/peds.2009-2791 20176665
43. Update on the management of Duchenne muscular dystrophy. Manzur AY, Kinali M, Muntoni F, Arch Dis Child 2008 93 11 986 90 10.1136/adc.2007.118141 18667451
44. Healthcare transition in persons with intellectual disabilities: general issues, the Maastricht model, and Prader-Willi syndrome. Schrander-Stumpel CT, Sinnema M, van den Hout L, Maaskant MA, van Schrojenstein Lantman-de Valk HM, Wagemans A, Schrander JJ, Curfs LM, Am J Med Genet C: Semin Med Genet 2007 45C 3 241 7
45. Transition from paediatric to adult service in epidermolysis bullosa. Foster L, Holmes Y, Br J Nurs 2007 16 4 244 17363858
46. Challenges of transition to adult health services for patients with rare diseases. Zurynski YA, Elliott EJ, Med J Aust 2013 198 11 575 6 10.5694/mja13.10424 23919688
47. Europeristat http://www.europeristat.com/our-indicators/indicators-of- perinatal-health.html
48. Paper 2: EUROCAT public health indicators for congenital anomalies in Europe. Khoshnood B, Greenlees R, Loane M, Dolk H, EUROCAT Project Management Committee, EUROCAT Working Group, Birth Defects Res A Clin Mol Teratol 2011 91 SUPPL. 1 16 22 21381186
49. Classification of rare diseases: a worldwide effort to contribute to the International Classification of Diseases. Rath A, Ségolène A, Bertrand B, Orphan et J Rare Dis 2010 5 SUPPL. 1 21 10.1186/1750-1172-5-S1-O21
50. Orphanet Report Series-Prevalence of rare diseases: Bibliographic data 2013 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence-of-rare- diseases-by-alphabetical-list.pdf
51. The burden of rare cancers in Italy (RITA) project. Trama A, Mallone S, Ferretti S, Meduri F, Capocaccia R, Gatta G, the RITA working group, Tumori 2012 98 550 8 23235748
52. Kaplan W, Laing R, Priority Medicines for Europe and the World World Health Organization 2004 http://whqlibdoc.who.int/hq/2004/WHO-EDM-PAR-2004.7.pdf
53. Eurordis, The Voice of 12,000 Patients. Experiences and Expectations of Rare Disease Patients on Diagnosis and Care in Europe http://archive.eurordis. org/IMG/pdf/voice-12000-patients/EURORDISCARE-FULLBOOKr.pdf
54. The influence of regional health care structures on delay in diagnosis of rare diseases: the case of Marfan Syndrome. Roll K, Health Policy 2012 105 2-3 119 27 22420917
55. Orphanet http://www.orpha.net/consor/cgi-bin/index.php?lng=EN
56. Drugs for rare diseases: paying for innovation. Hollis A, Health services restructuring in Canada: new evidence and new directions Montreal (QC): McGill Queen's University Press, Beach C, 2006
57. Rare cancers are not so rare: the rare cancer burden in Europe. Gatta G, van der Zwan JM, Casali PG, Siesling S, Dei Tos AP, Kunkler I, Otter R, Licitra L, Mallone S, Tavilla A, Trama A, Capocaccia R, RARECARE working group, Eur J Cancer 2011 47 17 2493 511 10.1016/j.ejca.2011.08.008 22033323
58. Measuring cancer prevalence in Europe: the EUROPREVAL project. Capocaccia R, Colonna M, Corazziari I, De Angelis R, Francisci S, Micheli A, Mugno E, EUROPREVAL Working Group, Ann Oncol 2002 13 6 831 9 10.1093/annonc/mdf152 12123329
59. Limitations of drug registries to evaluate orphan medicinal products for the treatment of lysosomal storage disorders. Hollak CE, Aerts JM, Aymé S, Manuel J, Orphanet J Rare Dis 2011 6 16 10.1186/1750-1172-6-16 21496291
60. CEMARA an information system for rare diseases. Landais P, Messiaen C, Rath A, Le Mignot L, Dufour E, Ben Said M, Jais JP, Toubiana L, Baujat G, Bourdon- Lanoy E, Gérard-Blanluet M, Bodemer C, Salomon R, Aymé S, Le Merrer M, Verloes A, CEMARA task force, Stud Health Technol Inform 2010 160 Pt 1 481 5 20841733
61. CEMARA: a Web dynamic application within a N-tier architecture for rare diseases. Messiaen C, LeMignot L, Rath A, Richard JB, Dufour E, Ben Said M, Jais JP, Verloes A, Le Merrer M, Bodemer C, Baujat G, Gerard-Blanluet M, Stud Health Technol Inform 2008 136 51 56 18487707
62. The how (and why) of disease registers. Mehta A, Early Hum Dev 2010 86 11 723 8 10.1016/j.earlhumdev.2010.08.006 20833486
63. Provision and financing of assistive technology devices in Germany: A bureaucratic odyssey? The case of amyotrophic lateral sclerosis and Duchenne muscular dystrophy. Henschke C, Health Policy 2012 105 176 184 10.1016/j.healthpol.2012.01.013 22349416
64. Pricing and reimbursement of orphan drugs: the need for more transparency. Simoens S, Orphanet J Rare Dis 2011 6 42 10.1186/1750-1172-6-42 21682893