June 7th 2012
Norges Blindeforbund
Braille Room
Sporveisgata 10
Oslo, Norway

13.00 h. Round Table: Next steps to develop an Aniridia Patients’ Registry in Europe

  • Retinitis pigmentosa patients ́registries. Mr. Ole Christian Lagesen. Journalist
  • European policy on Rare Diseases. Ms. Rosa Sánchez de Vega. President of Aniridia Europe. EURORDIS board member.
  • The state of the art in Italy. Ms. Barbara Poli. General Secretary of Aniridia Europe. Former president of Aniridia Italy

Retinitis pigmentosa patients’ registries

The international association for retinitis pigmentosa was established in 1978, but so far there isn’t an international registry of patients, instead there are many national and local registries.
In Norway there is a registry for RP, that includes genetic testing (recruitment and payment of the testing by the association but also by the University hospital); it gather 500 patients, but not all of them performed genetic testing and not all the mutations have been found.
The starting point was a general registry for visually impaired people, but it was so bad that at last it was closed and substituted.
The dominant model in Europe is the University registry, that shows high data quality but slow growing; now there is an attempt to follow Tubingen model to have comparable results.
It is proven that registries are terribly important but the obstacles are really big.
Fields of interest for RP today: genetic therapy, prevention of the loss of sight with nutrition (omega three lipids might influence the development of the disease) and neuroprotective agents.
As for the retina transplant, at the moment transplant with stem cells hasn’t succeed, as the cells survive but do not connect.
The Scientific Advisory Board should be composed by clinicians and researchers, because both are needed.
In RP International Advisory Board there are two people per country, that makes a group of around 100 people made up of clinicians and researchers.

All the efforts to include in the research field and organization field other countries outside Western Europe and North America were not very successful: Africa is absent (except South Africa), there are some groups in Asia, some countries in South America, but Eastern Europe is practically absent and so the Middle East.
The Board thank Mr. Ole Christian Lagesen for having shared his long-term and wide experience in the field of ocular diseases and for giving Aniridia community the opportunity to learn from it.

European policy on Rare Diseases and The state of the art in Italy

Ms. Rosa Sánchez the Vega illustrated her presentation on the European policy for RD and Ms. Barbara Poli presented the issue about the registries in Italy. Opportunities and difficulties of developing a European Aniridia registry are discussed and the group agrees to deepen our knowledge on the topic, to get in contact with key people in RD European network and to explore the possibility to join a EU project on registry such as the Epirare Project. Rosa and Barbara will take care of this issue together.

16.00 General Assembly

1. Opening of the meeting

2. Approval of the agenda
Point 10 was changed to Proposal on Action Plan 2012-2014 and Budget for 2012-2013.

3. Election of the chairman of the meeting
Neven Milivojevic was elected chairman of the meeting.

4. Election of the secretary of the meeting
Barbara Poli was elected secretary of the meeting.

5. Election of a person to check the minutes and to serve as teller
Corrado Teofili was elected to check the minutes and to serve as teller.

6. Establishment of electoral register
The electoral register was established. Full members with right to vote were: Italy, Norway, Spain, Sweden, UK; Finland and Germany were absent.

7. Activity Report
Activity Report for 2011 was illustrated by Barbara Poli.

8. Financial Report
There was no financial report as there aren’t any funds yet; some activities related to the administrative registration of the federation and to the Board meeting in Oslo were made possible by voluntary work and private donations

9. Adoption of the Report and accounts.
The General Assembly adopted the Activity Report 2011 and acknowledged the financial situation.

10. Proposal on Action Plan 2012-2014 and Budget for 2012-2013
Action Plan 2012-2014 was adopted by the General Assembly; at the moment no budget was established as no funds have been secured yet.

11. Decision on the number of members of the Board of Directors
A proposal of enlargement to 6 members was presented and adopted.

12. Election of the president of the federation
Rosa Sánchez de Vega was elected President of the federation.

13. Election of the vice-president of the federation
Neven Milivojevic was elected vice-president of the federation.

14. Election of the treasurer of the federation
Sølvi Ørstenvik was elected treasurer of the federation.

15. Election of the secretary of the federation
Barbara Poli was elected secretary of the federation.

16. Election of possible other members of the Board of Directors
Katie Atkinson and Denice Toews Hennig were elected as Board members.

17. Election of the Scientific Committee
The principle of having one doctor per country was established. The three confirmed doctors from Spain, Italy and Norway were elected and the
General Assembly gave mandate to the Board to enlarge the Scientific Committee. A group of Scientific Committee Advisors will also be created with doctors from the different countries to collaborate with the Scientific Committee on specific tasks.

18. Election of a nominating committee
Hilde Hansen and Corrado Teofili were elected in the nominating committee;
Hilde Hansen was elected as the chairperson.

19. Election of an auditor
Arvid Meløy was elected as auditor.

20. Election of possible other trustees
No other trustees are elected

21. Decision on membership fees
The Board proposed that for full members the minimum fee would be 30,00 euros, with the possibility to give more ; for affiliated members there will be a voluntary fee whose amount will be decided by the member itself.

22. Miscellaneous
The vice-president proposed to give a honorary membership to Rosa Sánchez de Vega. The motivation was read by the secretary:

“For her 15-year lasting commitment in the advocacy for aniridia patients
For her great commitment in connecting people in different countries
For the key role she played in building the federation Aniridia Europe
We propose that Ms. Rosa Sánchez de Vega become a honorary member of
Aniridia Europe”.

The General Assembly unanimously approved.

23. Closing of the meeting
The General assembly was closed at 17.30.