Information Centre for Rare Diseases and Orphan Drugs

1. Information Centre for Rare Diseases and Orphan Drugs A Project of the Bulgarian Association for Promotion of Education and Science (BAPES) www.raredis.org Activity Report – 2005 English version

2. www.raredis.org Information Centre for Rare Diseases and Orphan Drugs - Bulgaria • First in Eastern Europe(40% of the European population) • Operates in Bulgarian and English languages • Providingfree informationto patients, relatives and medical professionals • Building databases of doctors, associations, clinical centers and clinical trials • Building databases of patients with rare diseases  contacts among them and establishin self-support groups • Lobbying for adequate national health policy for rare diseases • National and internationalcollaboration and networking

3. www.raredis.org Information Centre for Rare Diseases and Orphan Drugs Team of consultants Genetics E-mail Forwards the inquiry to a consultant in: Pediatrics WWW Internal diseases Fax Reply Surgery Phone Other EN BG Medical secretary Post Quality control • Information sources used: • MEDLINE and OMIM • Specialised medical literature • Internet information sources Personalized reply Local database

4. The Internet portal: www.raredis.org

5. The Internet portal: www.raredis.org

6. The Internet portal: www.raredis.org

7. The Internet portal: www.raredis.org

8. Summary statistics: www.raredis.org

9. www.raredis.org Unique visitors per day LAUNCH ~500% increase for the first year!

10. www.raredis.org Summary statistics: www.raredis.org Visitors ofwww.raredis.org by countries and continents

11. www.raredis.org Requests for 2005 • Registered requests from: • 176 patients/relatives from 5 countries • 36 doctors from 8 countries • 9 patient associations from 3 countries • 78 descriptions of rare diseases prepared

12. www.raredis.org Geographic distribution of patient requests

13. www.raredis.org Requests for information coming from

14. www.raredis.org Distribution of patients by sex

15. www.raredis.org Referral of patients to ICRDOD

16. www.raredis.org Willingness of patients to link with other people with the same rare disease

17. www.raredis.org Delay of diagnosis* Mean delay of diagnosis = 1.44 years (0 ÷11.21 years) * Statistics calculated from anamnestic data as provided by patients.

18. www.raredis.org ICRDOD participation in workshops • The First Workshop in Bulgaria «HEREDITARY ANGIOEDEMA - DIAGNOSTICS, THERAPY AND EPIDEMIOLOGY» took place on 11 March 2005 (Friday) in Plovdiv (Bulgaria). • On 4th December 2005 in the town of Plovdiv, a meeting of the initiative group for establishing of a Center of Hereditary Angioedema (HAE Center) in Bulgaria took place. Hereditary angioedema

19. First Workshop on Hereditary Angioedema (HAE) in Bulgaria – 11 March 2005 In collaboration with: • Foundation for the Prevention and Treatment of Fatal Angioedematous Disease (Hungary) • Medical University of Plovdiv, Bulgaria • Rotary club of Plovdiv, Bulgaria • Results • Establishment of HAE center in Plovdiv • Specialized training for two clinicians in Hungary • Donation of immunological diagnostic tests for HAE • Rising the awareness and knowledge about HAE among medical specialists in Bulgaria • Free genetic counseling to HAE patients Hereditary angioedema

20. www.raredis.org ICRDOD participation in workshops • On 21 and 22 June 2005 the European Conference on Rare Diseases took place in Luxembourg. • The abstracts and posters from the conference are published on-line and are available for download. • ICRDOD participated with a poster. ECRD - Luxembourg

21. www.raredis.org ICRDOD participation in workshops • On 15-16 October 2005, the Annual Meeting of theNational Gaucher Association took place in hotel Augusta (Hisar, Bulgaria). • Patients with the Gaucher disease and their relatives, representatives from the Ministry of Health and leading Bulgarian specialists in this field attended the meeting. • The main topics discussed were the adequate treatment of patients, follow up and their full integration in the society. • The main purpose was to improve collaboration and partnership among responsible institutions and the patient association for successful solving the problems of patients with Gaucher disease in Bulgaria. • ICRDOD participated with a presentation. Gaucher disease

22. www.raredis.org ICRDOD participation in workshops • On 19 - 22 October 2005 in Bucharest (Romania), the International Prader-Willi Syndrome Organization (IPWSO) and Romanian Prader-Willi Association (RPWA) organized a Satellite Symposium on Prader Willi Syndrome. • The aim was to increase the public awareness on the problems of patients with this rare disorder. • Lecturers were Dorica Dan (RPWA), Pam Eisen (IPWSO, USA), Laura Bosio, Giorgio Fornasier (IPWSO, Italy) and Rumen Stefanov (ICRDOD). • Representatives of IPWSO are expected to arrive in Bulgaria (April-May) regarding the establishment of a Bulgarian Patient Prader-Willi association. • ICRDOD participated with a presentation. Prader Willi Syndrome

23. www.raredis.org ICRDOD participation in workshops • The Sixth Workshop on Partnering for Rare Disease Therapy Development „People with Rare Diseases – No Longer Alone in the World“ took place in London on 25-27 October 2005. • It was organized by The European Platform for Patients` Organizations, Science and Industry (EPPOSI). • EPPOSI is a EU patient-led partnership between patients, industry and academic science, founded in 1994 for the exchange of information and discussion of policies in EU human healthcare. • EPPOSI`s primary mission is to establish a strong European alliance of patients` organizations, academic science and industry jointly working on healthcare policies towards treatment and prevention of serious diseases. • A representative of ICRDOD participated in the workshop. EPPOSI

24. www.raredis.org Deposited letters at the Bulgarian Ministry of Health • The Bulgarian Association for Promotion of Education and Science (BAPES) deposited at the Bulgarian Ministry of Health an official proposal for establishment of National program for rare diseases and orphan drugs (Reg. No. 15-00-151/11.11.2004). • On 11th of November 2005, as an Associate member of EURORDIS, ICRDOD followed its initiative and deposited at the Bulgarian Ministry of Health a letter, stressing on the importance of the EC proposal for Regulation on Medicines for Children. Letters to MoH

25. First Eastern European Conference on Rare Diseases and Orphan Drugs – 27 May 2005 http://conf2005.raredis.org • CONFERENCE STATISTICS: • 132 registrations from 14 countries; • 13 speakers, 14 presentations covering major issues on rare diseases and orphan drugs; • 97 attendees from 11 countries; • Attendee profile: academy (73%), government (14%), patient associations (8%) and industry (5%); • PR RESULTS FOR BULGARIA • Total press articles: 16; • Total articles – news agencies: 4; • Total broadcasts: 7; • Total TV duration: 19.32 min; • Total articles – Internet media: 14; • ESTIMATED POPULATION INFORMED: ~ 4 500 000; Main sponsor: Sponsors:

26. First Eastern European Conference on Rare Diseases and Orphan Drugs – 27 May 2005 http://conf2005.raredis.org

27. First Eastern European Conference on Rare Diseases and Orphan Drugs – 27 May 2005 http://conf2005.raredis.org

28. First Eastern European Conference on Rare Diseases and Orphan Drugs – 27 May 2005 http://conf2005.raredis.org

29. www.raredis.org Membership • On 13th February 2005 the Information Centre for Rare Diseases and Orphan Drugs (ICRDOD) became an associate member of the European Organization for Rare Disorders (EURORDIS). • EURORDIS is an alliance of patient associations dedicated to improving the quality of life of all people living with rare diseases in Europe. At present, EURORDIS brings together more than 200 rare disease associations in 24 different countries, 16 of which are European Union member states. EURORDIS

30. www.raredis.org Contacts with patient associations • Foundation for the Prevention and Treatment of Fatal Angioedematous Disease (Hungary) • Prader-Willi Syndrome Association (Romania) • GEN Association (Poland) • Polish Society of MPS and related diseases (Poland) • Greek Alliance on Rare Diseases (Greece) • Patient association of Cornelia de Lange Syndrome (Bulgaria) • Association “Epidermolysis Bullosa” (Bulgaria) • Bulgarian AntiThalassaemia Association(Bulgaria) • Sun Foundation (Bulgaria) • National Gaucher Association(Bulgaria) Contacts

31. www.raredis.org Support letters • Bulgarian Ministry of Health • Central & Eastern European Genetic Network (CEE GN) • Mario Negri Institute for Pharmacological Research (Italy) • Bulgarian Society of Neurology • Bulgarian Society of Dialysis • Bulgarian Orthopedic-Traumatology Society • Bulgarian Society of Human Genetics • Bulgarian Society of Cardiology • Bulgarian Society of Endocrinology Support

32. www.raredis.org Participation in RDTF of DG SANCO • The Task Force on Rare Diseases (RDTF) has been established by DG SANCO on 21 January 2004 in Luxembourg • The RDTF has 36 members • 2 meetings per year • 3 working groups • Standards of care • Coding, classification and data confidentiality • Public health indicators • Monthly online newsletter • ICRDOD participates with an expert RDTF

33. www.raredis.org 2006 Action Plan • National level activities • Lobbing for adopting of aNational program for rare diseases and orphan drugs • Adding rare diseases to the National health strategy of Bulgaria • Establishment of an expert commission on rare diseases at the Ministry of Health • Preparing and adopting of a National program for rare diseases and orphan drugs in Bulgaria 2006 action plan

34. www.raredis.org 2006 Action Plan • National level activities • Support for patients with rare diseases and their families • Starting a green phone line (0800) • Establishing a support day centre • psychological consultations • consultations with a social worker • consultations with a lawyer • Running the HAE centre • Encouraging the establishment of patient associations 2006 action plan

35. www.raredis.org 2006 Action Plan • National level activities • Increasing the public awareness of rare diseases • Preparing a guide on rare diseases for medical professionals • Preparing a leaflet about rare diseases • Preparing a TV and audio announcement on rare diseases suitable for public radio broadcasting • Organizing interactive satellite workshops • Organizing the 2nd Eastern European Conference on Rare Diseases and Orphan Drugs - September 2006. 2006 action plan

36. www.raredis.org 2006 Action Plan • International level activities • Closer collaboration with EURORDIS and ORPHANET • Participation in RDTF of DG SANCO • Contacting European patient associations • Partnership in international projects and programs • Participation in international conferences and workshops with presentations and experts • Networking with similar European centers 2006 action plan

37. Information Centre for Rare Diseases and Orphan Drugs Working time:Monday - Friday09:00 – 17:30 (GMT+2:00) Tel: +359-897-858870 Fax: +359-2-9173911 E-mail: info@raredis.org Address: Office 46, Hall 7 - East International fair area Plovdiv, Bulgaria