Vai ai contenuti. | Spostati sulla navigazione | Spostati sulla ricerca | Vai al menu | Contatti | AccessibilitĂ 

| Crea un account

Mazzucato, Monica (2008) CriticitĂ  e prospettive nella programmazione dei servizi e degli interventi a favore delle persone con malattia rara. [Tesi di dottorato]

Full text disponibile come:

Documento PDF

Abstract (inglese)

Rare disorders are a numerous group of pathologies, characterized by extreme heterogeneity and at the same time sharing some common characteristics, involving nearly all the ages and all the etiologies. Furthermore, rare disorders often represent chronic conditions; as regards natural history, they are characterized by adverse outcomes, in terms of disability and quality of life and in many cases lead to a long terminal illness phase. Rare disorders don't represent a defined nosological group; an exact list of these disorders shared by the majority doesn't exist, as it strictly depends on the context we refer to (geographical, legislative, epidemiological, etc.). Many countries have adopted definitions based on prevalence criteria, but the cut-off limits used to define as rare a disorder affecting the population are different.
For all these reasons rare disorders represent a very complex topic from the health planning point of view of. Three main priority areas can be identified:
- the planning of services/interventions and the related process of resources' allocation;
- the creation of monitoring systems, allowing the collection of useful information;
- the relationship existing between the clinical activities and research activities.
As an example of planning strategies implemented in the first area, the process of selection of Reference Centers for rare disorders in the Veneto Region and in a Wide-Area context is presented.
For what concerns the second area, due to rare disorders' extreme variability and cross-sectional age distribution, it is extremely difficult to calculate or just estimate their whole impact on the population's health. Therefore, very little can be said about the effects that new knowledge advances and research progress in this field can have at a wide population level. To tackle these questions, it is necessary to have an area wide enough to be completely monitored for all rare disorders, which is very difficult to be pursued. The Registries focused on a specific disease, or on a group of diseases, despite their importance in improving the knowledge on specific disorders, are of limited usefulness from a health care planning point of view.
To properly determine the impact of the complex phenomenon "rare disorders" at a population level, area-based surveillance systems are needed, monitoring not the single conditions but the whole group of rare disorders.
In enforcing the rare disorders' national law, issued in 2001, specific health policies and integrated planning strategies were developed by the Veneto Region. Since 2002 a unique computerized monitoring system allowing diagnosis recording, exemption leading to benefits - entitlement and cases - enrollment in the Register was implemented.
This system connects all the identified centers of excellence, all the health districts and the local pharmaceutical services. The patient enters the surveillance system after a specific diagnosis of rare disease has been made, which is followed by the exemption issued by the local health districts. More than 12,000 patients are now enrolled in the Register. The information collected by the Register is useful for epidemiological studies, but can be also the starting point for the implementation of services for the patients. The example of the supply of diet products free of charge for metabolic patients is presented.
Patients with rare disorders are burdened by extremely complex health care histories. The lack of case notification systems and the common non univocal correspondence between rare disease entity and disease code reported in the International Classification of Diseases (ICD), commonly used in current data flows, allow only estimate of affected patients. At the same time the patient's clinical history collected by the Register can be enriched with the information coming from other current data flows. Another part of the thesis focuses on the identification of rare disorders' patients and their history of hospitalisations using Hospital Discharge Records.
From a health planning point of view the interactions between the three areas of interventions above mentioned need to be further studied in order to identify which tools can be used to achieve a better integration.
These tools essentially belong to two dimensions: culture, which results from the combination of knowledge and attitudes, and information.
For the first topic, the experience of the definition of therapeutic protocols for patients affected by neurological rare diseases is described. This agreement process implies the shift from the activity of collecting information to the elaboration of consensus guidelines, improving clinical practice standardization and progressively increasing the quality of the interventions.
As regards information, this represents a very crucial issue speaking of rare disorders, since they are characterized by paucity of available sources. The patients seek information both on topics related to the disease itself as well as information on which are the laboratories performing diagnoses or the centres with the best clinical expertise. Furthermore, lack of information characterizes also the knowledge of legislative aspects, especially the ones potentially leading to benefits entitlement.
Two concrete applications, aiming at improving the spreading of information, reducing the existing gap in this field are presented: the web-site and the help-line of the Veneto Region Register for Rare Disorders.
Finally, the application of translational research in the field of rare disorders is discussed. Translational research refers to translating research into practice. It aims at ensuring that new treatments, devices, and research knowledge reach the patients for whom they are developed. In the context of health planning, a translational approach can be applied when population-based interventions and practice-based research bring the results of the first kind of research to the public. In the field of rare disorders both the translational approaches have to be implemented. Rare disorders' patients could benefit not only from translation of biotechnological and novel therapies, but also from interventions aimed at improving access, reorganizing and properly coordinating systems of care.

Statistiche Download - Aggiungi a RefWorks
Tipo di EPrint:Tesi di dottorato
Relatore:Facchin, Paola
Data di deposito della tesi:30 Gennaio 2008
Anno di Pubblicazione:30 Gennaio 2008
Parole chiave (italiano / inglese):rare diseases; monitoring systems; epidemiology; health planning;
Settori scientifico-disciplinari MIUR:Area 06 - Scienze mediche > MED/38 Pediatria generale e specialistica
Struttura di riferimento:Dipartimenti > pre 2012 - Dipartimento di Pediatria
Codice ID:873
Depositato il:13 Nov 2008
Simple Metadata
Full Metadata
EndNote Format


I riferimenti della bibliografia possono essere cercati con Cerca la citazione di AIRE, copiando il titolo dell'articolo (o del libro) e la rivista (se presente) nei campi appositi di "Cerca la Citazione di AIRE".
Le url contenute in alcuni riferimenti sono raggiungibili cliccando sul link alla fine della citazione (Vai!) e tramite Google (Ricerca con Google). Il risultato dipende dalla formattazione della citazione.

1. Childs B. Genetic implications of rare diseases. Pediatrics. 1964; 34; 451-453 Cerca con Google

2. Snyderman SE, Norton PM, Roitman E, Holt Le Jr. Maple Syrup Urine Disease, with particular reference to dietotherapy. Pediatrics.1964;34:454-72. Cerca con Google

3. Holtzman N. A. Rare diseases, common problems: recognition and management. Pediatrics. 1978; 62; 1056-1060 Cerca con Google

4. Background Paper on Orphan Diseases for the WHO Report on Priority Medicines for Europe and the World. ( Data ultimo accesso: novembre 2007. Vai! Cerca con Google

5. Aymè S. Rare diseases: a long ignored public health problem [Les maladies rares: un problème de santè publique longtemps ignorè]. Rev Epidemiol Sante Publique. 2001; 49; 329-330. Cerca con Google

6. Avellaneda A., Izquierdo M., Torrent-Farnell J., Ramon J.R. Rare Diseases: chronic diseases that need a new approach. [Enfermedades raras: enfermedades cronicas que requieren un nuevo enfoque sociosanitario]. An Sist Sanit Navar 2007; 30; 177-190. Cerca con Google

7. Rare Diseases: understanding this public health priority. Eurordis, November 2005. ( Data ultimo accesso: novembre 2007. Vai! Cerca con Google

8. NORD. National Organization for Rare Disorders. ( Data ultimo accesso: novembre 2007. Vai! Cerca con Google

9. Office of Rare Diseases. ( Data ultimo accesso: novembre 2007. Vai! Cerca con Google

10. Orphanet. ( Data ultimo accesso: dicembre 2007. Vai! Cerca con Google

11. International Statistical Classification of Diseases and Related Health Problems, Ninth Revision, World Health Organisation, Geneva, 1992. Cerca con Google

12. US Orphan Drug Act. Public Law 97-414, January 4, 1983. Cerca con Google

13. Orphan Drug Program. Therapeutic Goods Administration (Australia), 1998. ( Data ultimo accesso: 5 settembre 2007. Vai! Cerca con Google

14. The Ministry of Health and Welfare (MHW). Disponibile agli indirizzi: (Japanese), ( Data ultimo accesso: 5 settembre 2007 Vai! Cerca con Google

15. Regulation (EC) No 141/2000 of the European Parliament and of the Council of December 16, 1999 on Orphan Medicinal Products. Official Journal of the European Communities. Jan 22, 2000 (L18/1). Cerca con Google

16. Regulation (EC) No 847/2000 of April 27, 2000. Laying Down the Provisions for Implementation of the Criteria for Designation of a Medicinal Product as an Orphan Medicinal Product and Definition of the Concepts “Similar Medicinal Product” and “Clinical Superiority” Official Journal of the European Communities. Apr 28, 2000 (L103/5). Cerca con Google

17. Piano Nazionale Francese per le malattie rare 2005-2008. Assurer l’équité pour l’accès au diagnostic, au traitement Cerca con Google

18. et à la prise en charge. Consultabile all’indirizzo Internet: ( ). Data ultima consultazione: agosto 2007. Vai! Cerca con Google

19. Eurordis. ( Data ultimo accesso: dicembre 2007. Vai! Cerca con Google

20. European Commission Health and Consumer protection Directorate-General. Public consultation. Rare diseases: Europe's challenges. ( Data ultimo accesso: dicembre 2007. Vai! Cerca con Google

21. Villaverde-Hueso A,Sånchez-Valle E, Álvarez E, Morant C, Carreira Pe, Martín-Arribas Mc, Gènova R, Ramírez- Gonzålez A, Posada De La Paz M. Estimating the Burden of Scleroderma Disease in Spain. The Journal of Rheumatology 2007; 34(11): 2236-2242 Cerca con Google

22. EurordisCare1. Comparing care for six rare diseases in seventeen European countries. ( Data ultimo accesso: dicembre 2007. Vai! Cerca con Google

23. EurordisCare2. Survey of the delay in diagnosis for 8 rare diseases in Europe. ( Data ultimo accesso: dicembre 2007. Vai! Cerca con Google

24. EurordisCare3. Helping shape the future of European Centres of Reference. ( Data ultimo accesso: dicembre 2007. Vai! Cerca con Google

25. Godet V, Hirtzlin I, Costet N. Diagnostic management of patients with rare disorders [Prise en charge diagnostique des patients atteints de maladies genetiques rares: exemple de cinq pathologies]. Rev Epidemiol Sante Publique, 2001; 49 : 357-366 Cerca con Google

26. Delle L, Samuelsson L, Tallborn A, Fasth A, Hallberg L Journal of Advanced Nursing 2006; 53 (4): 392-402 Cerca con Google

27. Rare Diseases Act. Public Law 107-280, 2002. Cerca con Google

28. Australian Government. Department of Health and gaing. Therapeutic Goods Administration. ( Data ultimo accesso: ottobre 2007. Vai! Cerca con Google

29. Knight AW, Senior TP. The common problem of rare disease in general practice. Med J Aust. 2006;185(2):82-3 Cerca con Google

30. Trattato istitutivo della ComunitĂ  europea. Art. 152. Gazzetta ufficiale n.C 325 del 24.12.2002, pagg. 100-101 Cerca con Google

31. Trattato istitutivo della ComunitĂ  europea. Art. 5.Gazzetta ufficiale n. C 224 del 31/08/1992 pag. 9 Cerca con Google

32. Decisione n.1295/1999/CE del Parlamento europeo e del Consiglio. 29 aprile 1999. Programma d’azione comunitaria sulle malattie rare nel quadro dell’azione nel settore della sanità pubblica (1999 - 2003). Gazzetta ufficiale n. 155, 22.06.1999. Cerca con Google

33. Decisione n.1786/2002/CE del Parlamento europeo e del Consiglio-23 settembre 2002. Programma d’azione comunitaria nel settore della sanità pubblica (2003 - 2008). Gazzetta ufficiale n. 271, 09.10.2002 Cerca con Google

34. Decisione n. 1350/2007/CE del Parlamento europeo e del Consiglio-23 ottobre 2007. Programma d’azione comunitaria di Sanità Pubblica (2008-2013). Gazzetta ufficiale n. 301/3, 20.11.2007 Cerca con Google

35. Libro Bianco “Un impegno comune per la salute: approccio strategico dell’UE per il periodo 2008-2013 COM(2007) 630. Ottobre 2007 Cerca con Google

36. Scott L.D., Alder S., Usui E., Lui K. Orphan Drugs: the current situation in the United States, Europe and Asia. Meyers A. S. Drug Information Journal 1997 ; 31: 101-104 Cerca con Google

37. Inventory of Community and Member States' incentive measures to aid the research, marketing, development and availability of orphan medicinal products. Revision 2006. ( Data ultimo accesso: novembre 2007 Vai! Cerca con Google

38. Register of designated Orphan Medicinal Products. ( Data ultimo accesso: novembre 2007. Vai! Cerca con Google

39. EurodisCare4. ( Data ultimo accesso: novembre 2007 Vai! Cerca con Google

40. Report from an expert group of the Rare Diseases Task Force. Overview of current Centres of Reference on rare diseases in the EU. ( Data ultimo accesso: gennaio 2007. Vai! Cerca con Google

41. Report from an expert group of the Rare Diseases Task Force. Centres of Reference for rare diseases in Europe: State-of-the-art in 2006 and recommendations of the Rare Diseases Task Force. ( Data ultimo accesso: gennaio 2007. Vai! Cerca con Google

42. Executive Summary of the Workshop on centers of Expertise and Reference network for Rare Diseases. Prague, 12-13 July 2007. ( Data ultimo accesso: novembre 2007. Vai! Cerca con Google

43. Aymè S, Schmidtke J. Networking for rare diseases: a necessity for Europe. Bundesgesundheitsbl-Gesundheitforsch-Gesundheitsschutz, 2007; 50: 1477-1483 Cerca con Google

44. Centro nazionale Malattie Rare. ( Data ultimo accesso: gennaio 2007 Vai! Cerca con Google

45. Accordo ai sensi dell’articolo 4 del D.L. 28 agosto 1997, n.281, tra il Governo, le Regioni e le Province Autonome di Trento e Bolzano sul riconoscimento di Centri di coordinamento regionali e/o interregionali, di presidi assistenziali sovraregionali per patologie a bassa prevalenza e sull’attivazione dei registri regionali ed interregionali delle malattie rare. Rep. n. 103/CSR del 10 maggio 2007. Cerca con Google

46. Last, JM, ed. (2001). A Dictionary of Epidemiology, 4th ed. New York, Oxford University Press. ISBN 0-19-514169-5. Cerca con Google

47. Kutler DI, Singh B, Satagopan J, Batish SD, Berwick M, Giampietro PF, Hanenberg H, Auerbach AD. A 20-year perspective on the International Fanconi Anemia Registry (IFAR). Blood. 2003;101(4):1249-56. Epub 2002 Sep 26. Cerca con Google

48. Giampietro PF, Adler-Brecher B, Verlander PC, Pavlakis SG, Davis JG,Auerbach AD. The Need for More Accurate and Timely Diagnosis in Fanconi Anemia: a Report From the International Fanconi Anemia Registry. Pediatrics 1993; 91 (6): 1116-1120 Cerca con Google

49. Kozinetz C, Skender ML, MacNaughton N, Almes MJ, Schultz RJ, Percy AK, Glaze DC. Epidemiology of Rett Syndrome: A Population-Based Registry. Pediatrics 1993; 91 (2): 445-450 Cerca con Google

50. Eades-Perner AM, Gathmann B,nerr V, Guzman D, Veit D, Kindle G, Grimbacher B. and the ESID Registry Working Party. The European internet-based patient and research database for primary immunodeficiencies: results 2004-06. Clinical and Experimental Immunology 2006, 147: 306-312 Cerca con Google

51. Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G, Rosenbloom BE, Scott CR, Wappner RS, Weinreb NJ, Zimran A. The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease. Arch Intern Med 2000;160(18):2835-43 Cerca con Google

52. ICGG. Gaucher Registry. ( Data ultimo accesso: gennaio 2007. Vai! Cerca con Google

53. Kennedy L, Craig AM. Global registries for measuring pharmacoeconomic and quality-of-life outcomes: focus on design and data collection, analysis and interpretation. Pharmacoeconomics 2004;22(9):551-68 Cerca con Google

54. Orphanet. Prevalence of Rare diseases: a bibliographic survey. ( Data ultimo accesso: gennaio 2007. Vai! Cerca con Google

55. Guillem P, Cans C, Robert-Gnansia E, Ayme S, Jouk PS. Rare diseases in disabled children: an epidemiologic survey. Arch Dis Child. Epub 2007 Oct 17 Cerca con Google

56. International Classification of Functioning, Disability and Health (ICF). World Health Organization. 2001 Geneve. Cerca con Google

57. Zurriaga LlorĂŠns O, MartĂ­nez GarcĂ­a C, Arizo Luque V, SĂĄnchez PĂŠrez MJ, Ramos Aceitero JM, GarcĂ­a Blasco MJ, Ferrari Arroyo MJ, Perestelo PerĂŠz L, Ramalle GĂłmara E, MartĂ­nez FrĂ­as ML, Posada de la Paz M; Red REpIER. Los registros de enfermedades en la investigaciĂłn epidemiolĂłgica de las enfermedades raras en EspaĂąa [Disease registries in the epidemiological researching of rare diseases in Spain]. Rev Esp Salud Publica. 2006;80(3):249-57. Cerca con Google

58. Junta de Extremadura. ConsejerĂ­a de Sanidad y Consumo DirecciĂłn General de Consumo y Salud Comunitaria. Enfermedades raras en Extremadura. 2004. ( ). Data ultimo accesso: gennaio 2007 Vai! Cerca con Google

59. US Department of Health and Human Services. ICD-9-CM: International Classification of Diseases- 9th Revision - Clinical Modification. HCFA, 1980. Cerca con Google

60. Pam R. Rajendran. The Internet: Ushering in a New Era of Medicine. JAMA, 2001, 285; 6. Cerca con Google

61. Nabarette H, Oziel D, Urbero B, Maxime N, Aymè S. Utilisation d’un annuaire des services spécialisés et orientation dans le système de soins : l’exemple d’Orphanet dans les maladies rares [Use of a directory of specialized services and guidance in the healthcare system: the example of the Orphanet directory for rare diseases]. Rev Epidemiol Sante Publique, 2006; 54:41-53. Cerca con Google

Download statistics

Solo per lo Staff dell Archivio: Modifica questo record