ORGANIZERS. National Association GENETIKA (Russia)

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1 RARE DISEASES SUMMER SCHOOL 2011 FINAL REPORT

2 ORGANIZERS National Association GENETIKA (Russia) Bulgarian Association for Promotion of Education and Science (Bulgaria) National Centre for Rare Diseases (Italy) SPONSORS Page 1

3 PROGRAMME Date Sunday Monday Tuesday Wednesday Thursday Friday Saturday Sunday Svetlana Karimova Rumen Stefanov Domenica Taruscio Svetlana Karimova Rumen Stefanov Manuel Posada Domenica Taruscio Radostina Simeonova Stamen Popov & Marian Angelov Morning session (10-12 a.m.) Welcome messages and introduction of the participants ( a.m.) Rare diseases in Russia the beginning Rare diseases in Eastern Europe from terra incognita to public health priority Rare diseases and orphan drugs in the Spanish healthcare system Rare diseases and orphan drugs in the Italian healthcare system Expert centres and integrative approach to rare diseases Orphan drugs bringing innovation to solve rare diseases problems Closure and take home notes Svetlana Karimova & Vladimir Tomov Domenica Taruscio Manuel Posada & Domenica Taruscio Domenica Taruscio Rumen Stefanov Georgi Stefanov Afternoon session (17-19 p.m.) Arrival and accommodation Identifying important rare diseases stakeholders. Role of patient associations EUROPLAN Project recommendations for setting national plans for rare diseases Epidemiological registries for rare diseases. EPIRARE Project EUROPLAN Project indicators for monitoring the progress of rare diseases activities Steps towards starting a national plan for rare diseases Key stakeholders management for improving patient access to therapy Page 2

SCHOOL FACULTY (in alphabetical order) Dr. Domenica Taruscio is Director of the National Center for Rare Diseases at the Italian National Health Institute (ISS).

Scientific Coordinator of the EUROPLAN and EPIRARE projects, funded by EU DG SANCO and of a number of national and international projects on rare diseases.

4 SCHOOL FACULTY (in alphabetical order) Dr. Domenica Taruscio is Director of the National Center for Rare Diseases at the Italian National Health Institute (ISS). She has a professional qualification as MD pathologist and has specialized in bioethics and genetics. Scientific Coordinator of the EUROPLAN and EPIRARE projects, funded by EU DG SANCO and of a number of national and international projects on rare diseases. President-Elect of ICORD (International Conferences for Rare Diseases and Orphan Drugs) Society. Dr. Taruscio is a member of the Task Force on Rare Diseases (DG SANCO), the European Molecular Genetics Quality Network management board and the advisory board of Eurogentest (NoE). Dr. Taruscio presented the following topics: EUROPLAN Project recommendations for setting national plans for rare diseases Time: Afternoon session on Tuesday (13 September) EPIRARE Project Time: Afternoon session on Wednesday (14 September) Rare diseases and orphan drugs in the Italian healthcare system Time: Morning session on Thursday (15 September) EUROPLAN Project indicators for monitoring the progress of rare diseases activities Time: Afternoon session on Thursday (15 September) Dr. Georgi Stefanov is a medical professional with more than 16 years of experience in pharmaceutical marketing in leading pharmaceutical companies like Sanofi, currently working for Abbott Laboratories as a Commercial Manager for Central Eastern Europe. His experience includes liaison through patient associations, multiple stakeholders, coordinating implementation of international registries, cross-regional activities: advisory boards, market researches; coaching & developing local teams. Active participation in social and charity projects of Rotary club. Dr. Stefanov has a medical specialty in general surgery, PhD degree in public health and MBA degree from the City University of Seattle (USA). Dr. Stefanov presented the following topics: Key stakeholders management for improving patient access to therapy Time: Afternoon session on Saturday (17 September) Page 3

SCHOOL FACULTY (in alphabetical order, cont'd) Dr. Manuel Posada, MD, PhD. Specialist in Preventive Medicine-Public Health and in Internal Medicine. Expert in Statistical Medicine and Epidemiology.

Environmental-related Diseases. Leader of the several projects including ASD and rare diseases epidemiology. Coordinator of the Spanish Network of Research Epidemiology in Rare Diseases (REpIER).

Author of the EUROPLAN indicators, E-RARE strategy paper for rare diseases research and the EAIS prevalence protocol. Dr.

5 SCHOOL FACULTY (in alphabetical order, cont'd) Dr. Manuel Posada, MD, PhD. Specialist in Preventive Medicine-Public Health and in Internal Medicine. Expert in Statistical Medicine and Epidemiology. Dr. Posada is currently Director of the Institute of Rare Diseases Research at the Institute of Health Carlos III and Director of the WHO Collaborating Center for the Epidemiology of Environmental-related Diseases. Leader of the several projects including ASD and rare diseases epidemiology. Coordinator of the Spanish Network of Research Epidemiology in Rare Diseases (REpIER). Responsible for a research group at the CIBERER (the Spanish Biomedical Centre in Rare Diseases Research). Author of the EUROPLAN indicators, E-RARE strategy paper for rare diseases research and the EAIS prevalence protocol. Dr. Posada presented the following topics: Rare diseases and orphan drugs in the Spanish healthcare system Time: Morning session on Wednesday (14 September) Epidemiological registries for rare diseases Time: Afternoon session on Wednesday (14 September) Dr. Marian Angelov is a medical professional with more than 10 years of experience in pharmaceutical marketing, currently holding the position of Medical Science Liaison at Novartis Pharma Bulgaria. Dr. Angelov has a MD degree from the Medical University of Sofia. Dr. Angelov presented the following topics: Development of Orphan Drugs. Targeting New Pathways Time: Morning session on Saturday (17 September) Dr. Radostina Simeonova is director of the Medical centre RareDis a project of BAPES, which is dedicated to people with rare diseases and their families, offering physical rehabilitation, psychological support social reintegration training. Dr. Simeonova has a PhD degree and speciality in Physical and Rehabilitation Medicine, had a practice in general medicine for 5 years and experience with homeopathy for more then 10 years. Member of the Bulgarian Association of Physical and Rehabilitation medicine, the Bulgarian Homeopathy Association and the Association of General Practitioners. Dr. Simeonova is an active participant and supporter of several projects, intended for integration of disabled people. Dr. Simeonova presented the following topics: Expert centres and integrative approach to rare diseases Time: Morning session on Friday (16 September) Page 4

6 SCHOOL FACULTY (in alphabetical order, cont'd) Dr. Rumen Stefanov (chairman of BAPES) is an associate professor in public health and Dean of the Faculty of public health at the Medical University of Plovdiv (Bulgaria). He specialized in public health, epidemiology and clinical trials on small populations with more than 10 years experience in rare diseases, being also a Marie Curie fellow and a visiting scientist at the Mario Negri Institute (Italy). Participant in several EU funded projects (Orphanet, EUROPLAN, BURQOL-RD, EPIRARE etc.). Dr Stefanov is an active member of the Task Force on Rare Diseases ( ), reviewer (DG ISM, Italian MoH, etc.), board member of the Central & Eastern European Genetic Network. Dr. Rumen Stefanov was a member of the drafting group of the EU Communication for rare diseases (COM/2008/679) and chair of the drafting group of the National Program on Rare Disease at the Ministry of Health of Bulgaria. Dr. Stefanov presented the following topics: Rare diseases in Eastern Europe from terra incognita to public health priority Time: Morning session on Tuesday (13 September) Steps towards starting a national plan for rare diseases Time: Afternoon session on Friday (16 September) Dr. Stamen Popov is a medical professional with more that 16 years of experience in pharmaceutical marketing and management, currently being BU Head at Novartis Oncology Bulgaria. Professional interests in oncology, being active member of Fight Against Cancer Foundation, Bulgarian Oncology Association and Oncology Subgroup at the Association of Research-based Pharmaceutical Manufacturers in Bulgaria (ARPharM). Editor-in-Chief of Scientific Medical Magazine Interna ( ). Dr. Popov has a MD degree from the Medical University of Sofia. Dr. Popov presented the following topics: Fighting Rare Diseases The Case of Rare Cancers. An Industry Perspective Time: Morning session on Saturday (17 September) Page 5

SCHOOL FACULTY (in alphabetical order) Ms. Svetlana Karimova is President of Russia s biggest and most important rare diseases patient association National Association GENETIKA. Ms. Karimova has a long-time experience in rare diseases awareness-raising and patient advocacy in Russia.

Karimova is also Head of the Clinical registries group within the Public Council of Patient Organizations at the Russian Federal Ministry of Health and Social Development.

7 SCHOOL FACULTY (in alphabetical order) Ms. Svetlana Karimova is President of Russia s biggest and most important rare diseases patient association National Association GENETIKA. Ms. Karimova has a long-time experience in rare diseases awareness-raising and patient advocacy in Russia. Director and founder of the Information resources centre for rare diseases in Saint Petersburg, Russia. Ms. Karimova is also Head of the Clinical registries group within the Public Council of Patient Organizations at the Russian Federal Ministry of Health and Social Development. Member of EURORDIS Council of national alliances. Ms. Karimova presented the following topics: Rare diseases in Russia the beginning Time: Morning session on Monday (12 September) Identifying important rare diseases stakeholders. Role of patient associations Time: Afternoon session on Monday (12 September) Mr. Vladimir Tomov is President and one of the founders of the Bulgarian National alliance of people with rare diseases. Founder and chairperson of the Bulgarian national Gaucher disease patient association, one of the very first rare diseases patient organization in Eastern Europe. Head of the Confederation for health protection (Bulgaria) since Member of the National advisory board for rare diseases at the Bulgarian Ministry of Health. Member of EURORDIS Council of national alliances. Mr. Tomov presented the following topics: Role of patient associations Time: Afternoon session on Monday (12 September) Page 6

SCHOOL PARTICIPANTS (in alphabetical order) 1.

Anastasia Tatarnikova, PNH Patient Association 4.

Dmitriy Lebedev, Municipal Council of Chernaya Rechka Municipality,

8 SCHOOL PARTICIPANTS (in alphabetical order) 1. Alexander Lebedev, Civic Chamber of Russian Federation / Russian State Medical University 2. Alexandra Komissarenko, Murmansk Oblast Duma 3. Anastasia Tatarnikova, PNH Patient Association 4. Arkadiy Murylev, Pskov Oblast Duma 5. Dmitriy Lebedev, Municipal Council of Chernaya Rechka Municipality, St. Petersburg 6. Ekaterina Lebedeva, Council of Central District, St. Petersburg 7. Elena Grigorenko, National Asociation GENETIKA 8. Gennadiy Makhotin, Civic Chamber of Russian Federation Page 7

SCHOOL PARTICIPANTS (in alphabetical order, cont'd) 13.

Svetlana Karimova, National Association GENETIKA 15.

Svetlana Ushenina, Bristol Myers-Squibb 17.

Irina Tarasova, Federal Research Centre of Pediatric Hematology, Oncology and

9 SCHOOL PARTICIPANTS (in alphabetical order, cont'd) 13. Sergey Apatenko, Civic Council, Ministry of Health 14. Svetlana Karimova, National Association GENETIKA 15. Svetlana Konstantinova, Council of Federation 16. Svetlana Ushenina, Bristol Myers-Squibb 17. Tatyana Kadyra, Ministry of Health, Republic of Komi 9. Irina Tarasova, Federal Research Centre of Pediatric Hematology, Oncology and Immunology, Ministry of Health and Social Development 10. Ivan Strelkov, Bayer Healthcare 11. Oleg Milakov, State Duma of Russian Federation 12. Oxana Khrolenok, National Aociation GENETIKA 18. Tatyana Kashcheeva, Research Institute of Obstetrics and Gynecology D. O. Ott, Russian Academy of Medical Sciences 19. Veniamin Chernov, Federal Research Centre of Pediatric Hematology, Oncology and Immunology, Ministry of Health and Social Development Page 8

SCHOOL SUMMARY The first ever in Eastern Europe Rare Diseases Summer School was held from 11 to 18 September in Sunny Beach (Bulgaria).

The participants came from a wide range of public fields federal legislative bodies and health authorities, their equivalents from the regions, leading medical institutions, academics, patient

Sustainable progress on rare diseases field is possible only when all interests and viewpoints are taken into account.

10 SCHOOL SUMMARY The first ever in Eastern Europe Rare Diseases Summer School was held from 11 to 18 September in Sunny Beach (Bulgaria). 18 Russian policy and decision makers had the possibility to get closer to rare diseases topics and to understand the significant added value that rare diseases actions and measures possess. The participants came from a wide range of public fields federal legislative bodies and health authorities, their equivalents from the regions, leading medical institutions, academics, patient organizations and pharmaceutical industry. This structure of participants reflects the basic idea that no stakeholders should be excluded from the rare diseases debate. Sustainable progress on rare diseases field is possible only when all interests and viewpoints are taken into account. In the opening day Svetlana Karimova (National Association GENETIKA, Russia) and Vladimir Tomov (National Alliance of People with Rare Diseases, Bulgaria) introduced the participants with the patient perspective and the role of patient advocacy movement. During the second day Rumen Stefanov (Bulgarian Association for Promotion of Education and Science, Bulgaria) analyzed the processes in Eastern Europe on rare diseases and gave concrete examples of best practices in Bulgaria and the Czech Republic, countries, which already have running national plans for rare diseases. Domenica Taruscio (National Centre for Rare Diseases, Italy) presented the EUROPLAN project and its contribution for the establishment of a common European policy on rare diseases. On Wednesday Manuel Posada (Carlos III Health Institute, Spain) explained how the Spanish health system is dealing with these problems and pointed out the achievements of Spain. Prof. Posada also presented the indicators, developed by EUROPLAN, aimed at assessing the proper implementation of various initiatives on rare diseases. Page 9

SCHOOL SUMMARY During the fourth day Dr. Taruscio similarly spoke of the Italian position on healthcare problems of rare diseases and presented the new European project in this area EPIRARE.

Stefanov organized practical training on how to develop a national plan for rare diseases.

11 SCHOOL SUMMARY During the fourth day Dr. Taruscio similarly spoke of the Italian position on healthcare problems of rare diseases and presented the new European project in this area EPIRARE. On Friday Radostina Simeonova (Medical Center RareDis ) made a detailed picture of the centers of expertise on rare diseases and the criteria for their designation and work. Prof. Stefanov organized practical training on how to develop a national plan for rare diseases. The final day was reserved for representatives of the pharmaceutical industry, who presented their point of view and explained the importance of orphan drugs for modern medicine. Each session consisted of practical training and small group discussion in order to achieve maximum involvement and feedback. The survey on participants satisfaction has confirmed the unanimous success of this project. The participants have appreciated the overall organization of the school and the quality of its educational and training frame. The active discussions during the sessions, as well as the many presented ideas for activities in the field of rare diseases in Russia have proved once more the organizers ability to motivate different stakeholders to involve themselves in rare diseases cause. In the end all the participants expressed their support and willingness to participate in an initiative group, which to develop and propose for approval and implementation a Russian national plan for rare diseases. The extremely positive feedback gives us reason to believe that the Summer School for Rare Diseases 2011 has greatly contributed to the rare diseases field and this edition will be the first of a series of upcoming familiar events in Eastern Europe. Page 10

SATISFACTION SURVEY RESULTS REASON TO PARTICIPATE Getting in touch with recent news and updates Raising professional qualification Communicating with other stakeholders Establishing contacts and

12 SATISFACTION SURVEY RESULTS REASON TO PARTICIPATE Getting in touch with recent news and updates Raising professional qualification Communicating with other stakeholders Establishing contacts and collaboration Introducing with European and international activities Introducing with European recommendations for actions Participation at similar past events 18.3% 12.2% 17.1% 17.1% 18.3% 14.6% 2.4% PRELIMINARY INFORMATION GENERAL ORGANIZATION Excellent Very good Satisfactory Fair Excellent Very good Satisfactory Fair 30.0% 45.0% 25.0% 0.0% Page % 45.0% 5.0% 0.0%

13 SATISFACTION SURVEY RESULTS LECTURERS SELECTION Excellent Very good Satisfactory Fair TRAINING SESSIONS 70.0% 30.0% 0.0% 0.0% Excellent Very good Satisfactory Fair 40.0% 50.0% 10.0% 0.0% TRAINING PRESENTATIONS SCHOOL FOLDER MATERIALS Excellent Very good Satisfactory Fair Excellent Very good Satisfactory Fair 45.0% 40.0% 15.0% 0.0% PARTICIPATION AT SIMILAR FUTURE EVENTS Y es No 100.0% 0.0% Page % 45.0% 25.0% 0.0%

14 TESTIMONIALS Prof. Veniamin M. Chernov, MD, PhD, Deputy director of the Federal Research Centre of Pediatric Hematology, Oncology and Immunology (Ministry of Health and Social Development), Moscow, Russia Assoc. Prof. Irina S. Tarasova, MD, PhD, Scientific secretary of the Federal Research Centre of Pediatric Hematology, Oncology and Immunology (Ministry of Health and Social Development), Moscow, Russia Ms. Tatyana K. Kashcheeva, PhD, DSci, Leading expert at the Laboratory for Prenatal Diagnosis of Inherited Diseases, Institute of Obstetrics and Gynecology D. O. Ott (Russian Academy of Medical Sciences), St. Petersburg, Russia How and when did you first "meet" with the rare diseases topics? Prof. Veniamin Chernov (VC): The first rare disease patient in my practice was a Gaucher disease one. Further, I have "met" with many more different rare disorders, as I am a pediatric hematologist. The term "rare diseases" has recently started being used in our country. Prof. Irina Tarasova (IT): I have been professionally focusing on the pediatric hematology and oncology for many years and a lot of these conditions are defined as rare. I first heard about the rare diseases as a global issue last year during the Fifth Eastern European Conference for Rare Diseases and Orphan Drugs and First All-Russian Rare Diseases Conference in St. Petersburg, in which I was invited as a moderator. Tatyana Kashcheeva (TK): I have been working on the hereditary diseases since The genetic laboratory where I work is specialized in diagnosis of some of the most frequent rare diseases, such as cystic fibrosis, PKU, hemophilia, fragile X chromosome, etc. There are many problems in rare diseases field. In your opinion, which one deserves to be a particular focus of interest by the medical professionals? VC: Introducing rare diseases topics to medical professionals, particularly rare diseases diagnosis and treatment guidelines. IT: Firstly, we need a global rare diseases registry, as well as registries for the different nosologies. Then, introducing of advanced rare diseases diagnosis and treatment methods and creating of centres of expertise. Finally, a national plan for rare diseases. TK: That's why we firstly need to launch a rare diseases task force. After that, we should start working on rare diseases list and registries. Page 13

TESTIMONIALS Does such kind of events as the Rare Diseases Summer School 2011 help dealing with these problems? How? VC: Sure.

We could use it as a base for further rare diseases activities in Russia. TK: Of course. Such initiatives always help to exchange experience and to communicate with colleagues.

IT: The already established global structures for diagnosis, registry, treatment and follow-up of rare diseases in Europe.

I was really impressed by the huge preliminary work that needs to be done when considering running such a database.

15 TESTIMONIALS Does such kind of events as the Rare Diseases Summer School 2011 help dealing with these problems? How? VC: Sure. But we also need specialized rare diseases programmes for medical students and medical professionals. IT: Yes. Sharing and learning from the others' experience is always helpful. We could use it as a base for further rare diseases activities in Russia. TK: Of course. Such initiatives always help to exchange experience and to communicate with colleagues. What did particularly impress you in the Rare Diseases Summer School 2011? VC: The achievements of many European countries, especially Italy, Spain and Bulgaria, in rare diseases field. IT: The already established global structures for diagnosis, registry, treatment and follow-up of rare diseases in Europe. TK: For me it was very interesting to get known with epidemiological registries activities, which have been recently started in Europe. I was really impressed by the huge preliminary work that needs to be done when considering running such a database. Many different approaches to rare diseases were presented during the School sessions. In your view, which of them could be transferred, adapted and implemented in Russia? VC: The reference centres, rare diseases registries. Russia needs to take part in the rare diseases international organizations and networks. IT: I think the rare diseases registries should be our first priority. TK: It is difficult to say it right now. We should take the best practices and try to adapt and implement them in our already existing healthcare structures. Page 14

TESTIMONIALS by the medical specialists' community. The School theme was "Rare Diseases as a health policy priority".

TK: I think the rare diseases national plan initiation should be just like the other national healthcare programmes, which we have in Russia.

VC: As a medical professional, I am pretty much interested in the advanced approaches for rare diseases treatment, as well as the rare diseases epidemiology.

TK: I would like to ask for more preliminary information on the presentations and trainings, as well as more detailed information, concerning rare diseases field in Russia.

16 TESTIMONIALS by the medical specialists' community. The School theme was "Rare Diseases as a health policy priority". Could a national plan for rare diseases help put the rare diseases among Russia's public health main points? VC: Yes, no doubt at all! IT: Of course. TK: I think the rare diseases national plan initiation should be just like the other national healthcare programmes, which we have in Russia. In my opinion, this process should be managed Finally, what would you like to suggest any future schools' organization improvements? VC: As a medical professional, I am pretty much interested in the advanced approaches for rare diseases treatment, as well as the rare diseases epidemiology. IT: Participation of leading clinical experts as lecturers, as well as more work groups on specific fields of interest. TK: I would like to ask for more preliminary information on the presentations and trainings, as well as more detailed information, concerning rare diseases field in Russia. SUMMER SCHOOL 2012 The following series of workshops "Rare diseases as one of the priorities and directions of state policy" for Russian participants are projected for 2012: April 2012 (Greece) - Workshop for healthcare authorities July 2012 (Italy) - Workshop for ptient organization for rare diseases September 2012 (Bulgaria) - Workshop for medical professionals and researchers November 2012 (Cyprus) - General workshop for all interested parties Page 15

17 GOVERNMENTAL SUPPORT Page 16

18 SCHOOL IN RUSSIAN PRESS Page 17

RARE DISEASES IN EASTERN EUROPE BECOMING A PUBLIC HEALTH PRIORITY

RARE DISEASES IN EASTERN EUROPE BECOMING A PUBLIC HEALTH PRIORITY www.raredis.org Dear friends, RARE DISEASES ORPHAN DRUGS The October edition of Rare Diseases and Orphan Drugs is just in front of you. Two very significant events took place in September. The Bulgarian