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 patientsregistries.~ ~
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 patientscommunity. 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