RARE DISEASES SUMMER S 2011 · National Association “GENETIKA” (Russia) ... E-RARE strategy...

RRAARREE DDIISSEEAASSEESS

SSUUMMMMEERR SSCCHHOOOOLL

22001111

FFIINNAALL RREEPPOORRTT

National Association “GENETIKA” (Russia)

www.rarediseases.ru

Bulgarian Association for Promotion of Education

and Science (Bulgaria)

www.raredis.org

National Centre for Rare Diseases (Italy)

www.iss.it/cnmr

SPONSORS

ORGANIZERS

Date Morning session

(10-12 a.m.) Afternoon session

(17-19 p.m.)

11.09.2011

Sunday Arrival and accommodation

Svetlana

Karimova

Rumen Stefanov

Domenica

Taruscio

Welcome messages and introduction

of the participants (9.30-10 a.m.)

12.09.2011

Monday

Svetlana

Karimova Rare diseases in Russia –

the beginning

Svetlana

Karimova &

Vladimir

Tomov

Identifying important rare diseases stakeholders. Role of patient associations

13.09.2011

Tuesday Rumen

Stefanov

Rare diseases in Eastern Europe – from terra incognita

to public health priority

Domenica

Taruscio

EUROPLAN Project –

recommendations for setting national plans

for rare diseases

14.09.2011

Wednesday Manuel

Posada

Rare diseases and orphan drugs in the

Spanish healthcare system

Manuel

Posada &

Domenica

Taruscio

Epidemiological registries for rare diseases. EPIRARE Project

15.09.2011

Thursday Domenica

Taruscio

Rare diseases and orphan drugs in the

Italian healthcare system

Domenica

Taruscio

EUROPLAN Project – indicators for monitoring

the progress of rare diseases activities

16.09.2011

Friday Radostina

Simeonova

Expert centres and

integrative approach to rare diseases

Rumen

Stefanov

Steps towards starting a national plan

for rare diseases

17.09.2011

Saturday

Stamen Popov

& Marian

Angelov

Orphan drugs – bringing innovation to solve

rare diseases problems

Georgi

Stefanov

Key stakeholders

management for improving

patient access to therapy

18.09.2011

Sunday Closure and take home notes

PROGRAMME

(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)

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)

SCHOOL FACULTY


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 (2004-2009), 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” (1994-1996). 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)

SCHOOL FACULTY


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 2009. 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)

SCHOOL FACULTY


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

SCHOOL PARTICIPANTS


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”

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

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

SCHOOL PARTICIPANTS

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.

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.

SCHOOL SUMMARY

RREEAASSOONN TTOO PPAARRTTIICCIIPPAATTEE GGeettttiinngg iinn ttoouucchh wwiitthh rreecceenntt nneewwss aanndd uuppddaatteess 1188..33%%

RRaaiissiinngg pprrooffeessssiioonnaall qquuaalliiffiiccaattiioonn 1122..22%%

CCoommmmuunniiccaattiinngg wwiitthh ootthheerr ssttaakkeehhoollddeerrss 1177..11%%

EEssttaabblliisshhiinngg ccoonnttaaccttss aanndd ccoollllaabboorraattiioonn 1177..11%%

IInnttrroodduucciinngg wwiitthh EEuurrooppeeaann aanndd iinntteerrnnaattiioonnaall aaccttiivviittiieess 1188..33%%

IInnttrroodduucciinngg wwiitthh EEuurrooppeeaann rreeccoommmmeennddaattiioonnss ffoorr aaccttiioonnss 1144..66%%

PPaarrttiicciippaattiioonn aatt ssiimmiillaarr ppaasstt eevveennttss 22..44%%

PPRREELLIIMMIINNAARRYY IINNFFOORRMMAATTIIOONN GGEENNEERRAALL OORRGGAANNIIZZAATTIIOONN EExxcceelllleenntt 3300..00%% EExxcceelllleenntt 5500..00%%

VVeerryy ggoooodd 4455..00%% VVeerryy ggoooodd 4455..00%%

SSaattiissffaaccttoorryy 2255..00%% SSaattiissffaaccttoorryy 55..00%%

FFaaiirr 00..00%% FFaaiirr 00..00%%

SATISFACTION SURVEY RESULTS

LLEECCTTUURREERRSS SSEELLEECCTTIIOONN TTRRAAIINNIINNGG SSEESSSSIIOONNSS EExxcceelllleenntt 7700..00%% EExxcceelllleenntt 4400..00%%




TTRRAAIINNIINNGG PPRREESSEENNTTAATTIIOONNSS SSCCHHOOOOLL FFOOLLDDEERR MMAATTEERRIIAALLSS EExxcceelllleenntt 4455..00%% EExxcceelllleenntt 3300..00%%




PPAARRTTIICCIIPPAATTIIOONN AATT SSIIMMIILLAARR FFUUTTUURREE EEVVEENNTTSS YYeess 110000..00%%

NNoo 00..00%%

SATISFACTION SURVEY RESULTS

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 1983.

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.

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.

TESTIMONIALS

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

by the medical specialists' community.

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.

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

SUMMER SCHOOL – 2012

TESTIMONIALS

GOVERNMENTAL SUPPORT

SCHOOL IN RUSSIAN PRESS

http://www.moldep.ru/ru/blog/100-bolgaria.html

http://pln-pskov.ru/politics/100317.html

RARE DISEASES SUMMER S 2011 · National Association “GENETIKA” (Russia) ... E-RARE strategy...

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