Part, Chapter, Paragraph
1 II, 5. 15.Acr| Disorders~OD~Orphan Drugs~RD~Rare Diseases~ ~
2 II, 5. 15. 1| concept of “rare disease” (RD) emerged more clearly in
3 II, 5. 15. 1| only reason for considering RD from a public health perspective.
4 II, 5. 15. 1| public health perspective. RD are also a true public health
5 II, 5. 15. 2| As regards the list of RD, two main databases are
6 II, 5. 15. 2| contains a list of over 5 000 RD and provides textual information
7 II, 5. 15. 2| information on 2 100 of them. The RD included in Orphanet are
8 II, 5. 15. 2| OMIM, but also infectious RD, rare intoxications, auto-immune
9 II, 5. 15. 2| auto-immune diseases, and RD of unknown aetiology (Orphanet,
10 II, 5. 15. 2| disease.~ ~A third database of RD which is available is maintained
11 II, 5. 15. 2| database, 2007). The number of RD for which information is
12 II, 5. 15. 2| source of information on all RD but hundreds of sources
13 II, 5. 15. 2| dedicated to a specific RD or a group of RD. Orphanet
14 II, 5. 15. 2| specific RD or a group of RD. Orphanet is tracing them.
15 II, 5. 15. 2| regard the prevalence of RD in general, and of each
16 II, 5. 15. 2| in general, and of each RD is particular, there is
17 II, 5. 15. 2| source of information as most RD have no specific code and,
18 II, 5. 15. 2| assess the prevalence of RD in general. All the figures
19 II, 5. 15. 2| incidence and prevalence of RD. The published articles
20 II, 5. 15. 2| regard the natural history of RD, the sources of information
21 II, 5. 15. 2| one disease or a group of RD. These registries may be
22 II, 5. 15. 2| data is not useful as most RD have no specific ICD code.
23 II, 5. 15. 2| certificates on the 250 RD which have a specific ICD10
24 II, 5. 15. 3| analysis~ ~The distribution of RD prevalence is skewed toward
25 II, 5. 15. 3| low numbers. Of the 5,000 RD listed in Orphanet, only
26 II, 5. 15. 3| 5 to 1 in 10 000 and 233 RD have a prevalence ranging
27 II, 5. 15. 3| in 100 000. Another 1 000 RD have probably a prevalence
28 II, 5. 15. 3| the other ones (over 3 500 RD) affecting only a few patients
29 II, 5. 15. 3| accepted, this means that 350 RD affects 80% of the patients
30 II, 5. 15. 3| of the patients and 1,500 RD affect 95% of the patients.
31 II, 5. 15. 3| be validated by data from RD patients’ registries.~ ~
32 II, 5. 15. 3| regarding the contribution of RD to morbidity and mortality.,
33 II, 5. 15. 3| of the 200 more frequent RD with a precise ICD code.
34 II, 5. 15. 3| demonstrated that 75% of these 200 RD affect children. In terms
35 II, 5. 15. 3| incapacities, 66% of these RD are disabling and for 10%
36 II, 5. 15. 3| revealed that these 200 RD contribute to 1.4% of total
37 II, 5. 15. 3| hospitalisation, these 200 RD contributed to 1.3% of all
38 II, 5. 15. 3| The cost of treating RD and caring for patients
39 II, 5. 15. 4| activities closely related to RD. This Regulation establishes
40 II, 5. 15. 4| research in the field of RD, support the development
41 II, 5. 15. 4| systems to the needs of the RD patients’ community. A first
42 II, 5. 15. 4| diagnosis and treatment of RD and to provide a forum for
43 II, 5. 15. 4| elements for a policy on RD in Europe through public
44 II, 5. 15. 4| knowledge and identification of RD; improvement of diagnosis
45 II, 5. 15. 4| and care of patients with RD; accelerate research and
46 II, 5. 15. 4| developments in the field of RD and OD; empower patients
47 II, 5. 15. 4| OD; empower patients with RD at individual and collective
48 II, 5. 15. 4| knowledge for several dozens of RD. In the Seventh Framework
49 II, 5. 15. 5| patients affected with a RD and have defined policies
50 II, 5. 15. 5| to the problems raised by RD.~ ~Following the adoption
51 II, 5. 15. 5| the health care system.~ ~RD are model diseases for improving
52 II, 5. 15. 5| empowerment of patients. RD patients and their organizations
53 II, 5. 15. 5| instrumental role in determining RD research policies and projects.
54 II, 9. 3. 1| 1637~ ~Lim LS, Fitzpatrick RD (2004): Osteoporosis in
55 III, 10. 6. 1| Kaplan GA, Salonen JT, Cohen RD, Brand RJ, Syme SL, Puska
