AE meeting Homburg, June 1-2,2013

Aniridia Europe Meeting
Universitätsklinikum des Saarlandes
Klinik für Augenheilkunde
Homburg/Saar (Germany)
1st and 2nd of June 2013

Report

This event was jointly organised by the Eye Hospital for Ophthalmology of the University Hospital Saarland, Homburg /Saar, the German Aniridia Association, AWS Aniridie-WAGR Selbsthilfe e.V. and The European Federation of Aniridia Associations, Aniridia Europe, with the aim at bringing together people with aniridia from Germany and other European countries and at empowering them by providing them relevant with information on their disease and about the different situation in the different European countries, as well as showing them the potential of working together under a strong umbrella group. This is why several parallel meetings and conference were organised over those two days: a German meeting, an Aniridia Europe representatives meeting and a Scientific Symposium and the possibil ity of an ophthalmologic examination with low vision advice in the Eye Clinic.

June 1st – Morning: Parallel meetings: German meeting and European meeting

European meeting:

Aniridia Europe President, Rosa Sánchez de Vega, briefly introduced the meeting then gave the floor to the participants that presented the situation of their own country and of their national association, when existing.

Around the table there were people from Spain, Germany, Italy, United Kingdom, Switzerland, Belgium, Russia, Bulgaria, Denmark, Sweden, Norway. Dr. Rasha Sameer, a medical doctor from Egypt, asked to participate in the meeting; this was welcomed by the group. Then the scheduled presentations were exposed.

Rosa Sánchez de Vega talked about Aniridia Europe in 2013, presenting the history, objectives, activities and future perspectives of the federation, in the frame of EU Rare Diseases policy and ongoing projects such as patients’ registries.

The group discussed the possibility of building a European registry for aniridia patients and it was said that at present there is a need to wait for the results of some important developments on this issue at EU level; in the meantime, it was decided to build a contact list of patients in order to be ready when there will be a concrete opportunity of building a registry.

Barbara Poli, AE Secretary, presented Protocols and Guidelines for Congenital aniridia: How and why, explaining the characteristics of these documents and relating on the two existing experiences: the Spanish Protocol on the management and care of aniridia patients and the Italian Guidelines for the Management of congenital aniridia.

Neven Milivojevic explained the policy chosen by Aniridia Europe of slowly but surely building a long term financial and organizational sustainability. He strongly advised participants to build an association in their countries because our previous experiences prove that a formally recognised organisation can have a stronger voice towards medical professionals and healthcare institutions. Some raised the problem that their doctors discourage them about forming an association, because they think that it more appropriate to rely on the existing organisations, such as the national blind unions. AE Board made clear that Aniridia Europe and aniridia national associations are neither in opposition nor in competition with the blind unions or any other existing association. Instead, our objective is to focus on the specific needs of aniridia patients connected to the specificity of the disease (knowledge, management and research on the disease), while we cooperate with other associations and institutions on all the matters we have in common. It was suggested by Rosa Sánchez de Vega to include a chapter on this kind of advocacy in the document that is being developed on How to start a national association.

June 1st– Afternoon

The participants moved to the Auditorium to attend the Scientific Symposium on aniridia together with the German patients. About 65 people attended the conference.

Prof. B. Seitz, director of the Clinic and Denice Toews-Hennig welcomed the participants and thanked Aniridia Europe for doing its best to combine both the European and the German meetings. Denice also thanked Dr Seitz and Dr. Kaesmann for their involvement and for hosting the event. She introduced herself not only as representative of the German Association and Aniridia Europe, but also as mother of a 4 year old child with aniridia. She still has many concerns and many questions on the management of the disease. The lack of information available and the difficulty to find competent doctors on this disease, motivated her to organise this event, specially when she met Prof Kaesmann. “I consider this conference as a starting point for a better future, for a common work, also at European level. I hope that from now on, doctors will share their research findings to offer the best possible treatment for people with aniridia” Mrs. Toews-Hennig added.

Rosa Sánchez de Vega presented Aniridia Europe to the German participants, that was nicely translated into German by Dr. Kaesmann.

Gabriele Feigl, BBS, from the Institute for blind and visually impaired en Nürnberg, talked about the Fundamentals and Opportunities of Sight Training. “Early sight training should always be performed after a diagnosis of a visual problem”, Mrs Feigl stated. She reported the way they offer support to families at their home, primary school, kindergarden or wherever is necessary. The goal is to develop self management and self confidence in children, contributing to their happiness and autonomy. She shows how other senses can support the lack of vision.

Prof. Dr. Barbara Käsmann-Kellner, Paediatric Ophtahlmology and Low Vision. Department of Ophthalmology. University of Saarland. Homburg, talked about Clinic of Aniridia, simple and complicated histories and their non-operative treatment – Genetics of aniridia and recent studies on aniridia. “In Aniridia all the structures of the eye are affected. According to statistics, there are about 800-1000 people with aniridia in Germany. Anirida has no cure and glasses do not improve sight, aniridia is a complex disorder”. Dr. Kaesmann explained.

Dr. Kaesmann reports on some of the complicated associated conditions that have a severe impact on these patients ́ sight, apart from the lack of iris, like, small optic nerve, cornea clouding and high pressure, that causes irreversible damage on the retina. She does not recommend artificial iris implants, since they may cause glaucoma, scares and fibrosis, but other surgeries like eye lid ptosis and nystagmus could be performed with more or less success, since there is no direct intervention in the eye.

Prof. Dr. B. Seitz, The surgical treatment options in congenital aniridia: glaucoma surgery; cataract surgery (removal of the opaque lens of the eye), surgical possibilities in corneal scarring and corneal opacities.
Dr. Seitz presented the different problems in the cornea with aniridia and the different surgical procedures. “Cornea is very delicate and get easily irritated, causing harm in these patients”, this is why he does not recommend contact lenses. “Preserving sight is our mission, then only surgery should be performed as late as posible and only when really necessary”, he highlighted.

Dr. Seitz and Dr. Kaesmann-K. ppt presentations will be available at: www.anirdie-wagr.de

June 2nd– Morning

The morning was divided in three sessions.

First session:

There were some short presentations:

  1. Neven Milivojevic explained that RD associations very rarely meet the criteria for getting funds; at the moment only the Spanish and the Norwegian as sociations receive some funding from the State.
    Aniridia Europe received some funding from Eurordis in order to organise meetings to build the federation; this is a very important support, but it cannot ensure ordinary functioning.
    AE has a sponsorship agreement with a private company, HumanOptics; the agreement makes clear that we do not recommend in any way to use their products as AE does not have the capability to offer direct medical advice or guidance.
    This amount is not very large and we are keeping it to make a reserve to guarantee the financial sustainability of the 2014 Conference.
    At the moment, this is the only money we have and it would be very good if full and affiliated members could help AE in finding philanthropy sponsors.
    As for regular small tax-deductible gifts: the laws for tax deduction are those of the country of the giver, so the possibility to deduct a donation has to be investigate in every specific case.
  2. Katie Atkinson talked on behalf of Jenny from UK and Kery from Spain, who propose to create a European group on WAGR. There is already an International WAGR 11p13 group in USA and every year they organise a meeting, but it is always in America and this is too far for people from Europe.
    The idea is to have a meeting in Europe too.
    Jenny and Kery wish to create a group, to promote research, to cooperate with other organisations such as AE, to have a protocol, and to create a scientific panel. Participants are required to transmit this information on their national networks through mails, websites, social networks and so on.
  3. Elena Tsoneva and Ognian Petkov explained that the Bulgarian association has applied for a project directed to build empowerment for families affected by aniridia. The partnership ensured by the Norwegian association will give the project more possibilities to be accepted.
  4. Barbara Poli gave some information about the state of the art of the 2nd European Conference on Aniridia, scheduled in Italy in September 19-20th 2014: 2 days in Italy, including 4 sessions : 3 for professionals, 1 open to patients.
    Doctors from European countries, Japan and USA will be invited as speakers
    Main Topics are: Conservative serum, prevention, new possible approach, children.

Second Session:

Editorial Staff meeting. Some members of the Editorial Staff (Espen Vangsnes, Katie Atkinson, Barbara Poli and Denice Toews-Hennig) left to have a meeting on the website, that is at the moment undergoing revision.

Third session:

The rest of participants stayed with the President and the Vice-President

A paper with FAQs Frequent Asked Questions was delivered, answered by some members of AE Scientific Committee, that will be progressively updated by contributions of doctors or speakers at Oslo Conference 2012.

The participants shared their concerns and looked for solutions at European level, expressed their expectations and requirements to Aniridia Europe:

  1. Awareness. All agreed that Awareness campaign on aniridia is very necessary, since very few people have heard about this disease and even doctors have not had the opportunity to see a patient with aniridia. Some (Belgium) proposed to disseminate information at universities and hospitals so that national doctors are more knowledgeable on this disorder. Dr. Rasha (from Egypt) suggests developing a brochure to be delivered in hospitals, universities, schools, etc. It is also important to invite doctors to our conferences and promote workshops on aniridia in professional confe rences. It is important to have basic information flyers or ppt format to present it at universities, hospitals in every country.
  2. Treatments and coverage. In some European countries autologous serum is not accessible or available (Italy and Denmark). It was suggested to get information on this, to find out where it is available and where it is not, as well as getting information on the availability of other treatments for aniridia in each country. Neven proposed to address this issue to AE Scientific Committee, and also to find out if the European Medicines Agency EMA has approved it.
  3. Aniridia Europe Forum to share experiences and support each other. Ognian (Bulgaria) explained the added value of a European forum, compared to facebook, as it is a closed group and keep the record of questions and answers.
  4. Making a European list of people with aniridia, as a first step for a European Patients’ Registry with Aniridia, trying to collect and store private data, but protecting private data confidentiality, with previous consent form to be shared or sharing them with a code and ensure the only access to data by a person responsible for this. The larger number of patients with aniridia we collect, the more interest from researchers we will get.
  5. The need for a common European Medical Card. Many participants proposed the idea of developing a card with medical information on aniridia. Many have the concern that their children or themselves, when unconscious at an accident, may be mis-diagnosed as dead, because of his/her big pupil. In some Nordic countries are working on it. Some proposals like a card with a bar code were raised, as well as simple stickers designed for rare diseases, for emergency, for necklacse or wallets. They recall that the Red Cross, for ex., has also such things, like small lockers.
  6. Education info. Some parents expressed the need of a common basic booklet for schools, that could be translated into different EU languages.
  7. Advocacy for patients’ rights. Aniridia Europe is expected to become a lobbyist (Belgium) at European and National level about the problems/barriers people with aniridia, to have treatment expenses reimbursed and facilitate the social integration, like low taxi payment for people who cannot drive, for ex. visual impaired. AE is also perceived as a platform to get involved, develop or participate in European projects.
  8. Check if “Aniridia” is listed as a rare disease at National level. Neven suggested the participants to check if “aniridia” is in the National list of rare diseases, because many of social services are based on the list.
  9. European Guidelines on Aniridia. All the participants stood out the importance of a European Protocol or Guidelines on aniridia, that should cover medical and social information, medical literature, projects, etc.
  10. Positive opinion about Aniridia Europe and this kind of European meetings. Most of the participants were happy to be able to meet other people with aniridia from other European countries and appreciated to feel part of a group, to break up isolation, particularly in countries where there is no association yet.

There was a brainstorming on how everyone could contribute and support Aniridia Europe, to go forward and become stronger.

Belgium (Joeri & Colle) and Denmark (Susan) are trying to develop a National association in their country and check if “aniridia” is listed.
As it was mentioned before, some are willing to contact universities and give presentations on aniridia for students.

Switzerland (Urs) will try to contact people with aniridia in his country (although he is aware that the challenge of speaking 4 different languages in his country and guesses that depending on their language they could already feel supported by the already established associations in Germany, France and Italy. He will try to put an advertisement in these websites.

– Rosa promised to make AE ppt presentations available for the commuinty to be adapted to National situation, different scope or targeted audience and to be translated into the correspondent language. Didier offered his knowledge on projects development for support and advice.

Russia (Gala) insists in involving as many doctors as possible in conferences on aniridia and offers her support to get sponsors from Egypt or Russia, she will contact doctors from different specialities in Russia and suggests organising a meeting in Egypt.

Bulgaria will work on seminars, brochures, on Aniridia Europe forum, with a previous registration. Ognian invites everyone to register. He asks the others for support for marketing the forum at National level. He will prepare a pack of information and send it to the group, to be widely disseminated and spread out.

Norway (Sølvi). The Norwegian association seems to be, currently, the most sustainable, financially speaking, that is supported by the government.

The final session gave the participants the opportunity to wrap up and to express their willingness to work together on aniridia research projects at National and European level. Everybody expressed their congratulations and thanks to to Denice Toews-Hennig for the organisation of the meeting and for her warm hospitality.

 

AE – Aniridia Europe Round Table and General Assembly, June 6, 2012

ANIRIDIA EUROPE DAY
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.

Report on 2013 Make a Miracle Conference

2013 Make a Miracle Conference
organized by
AFI – Aniridia Foundation International and University of Virginia
Charlottesville, July 31st-August 4th, 2013

 

REPORT

From July 31st to August 4th the University of Virginia in Charlottesville hosted the 7th Conference on Aniridia organized by AFI – Aniridia Foundation International.
The five-day event included many social activities and meetings for patients and families, with a special focus on childcare and teen programs, and a considerable number of scientific lectures by 44 presenters (among them, 26 physicians or researchers), as it can be read in the program.
Around 100 patients and relatives and 30 physicians/researchers (not including the 44 presenters) attended the conference; 11 companies participated to the vendor fair.
Aniridia Europe was represented there by its secretary, Barbara Poli, who gave a presentation on AE’s activities and invited the participants to attend the 2nd European Conference on Aniridia next year in Venice, Italy. At the Conference were also present AE’s vice president, Neven Milivojevic, and Galina Gening, president of Aniridia Russia, who contributed in representing European patients’ needs and perspectives.

It is really impossible even to give a short summary of all the lectures and meetings, so we will here simply outline the main results of the conference.
AFI has been promoting research on aniridia for many years, with the overall goal of assisting in the advancement of the understanding and treatment of the disease and of its associated conditions.
As the gene PAX6, whose mutations cause aniridia, is expressed not only in the eye, but also in other organs, there is some evidence that aniridia is not only an eye condition, but a more complex syndrome, even though it is not clear yet how exactly other parts of the body are affected.
During the conference, a full session was devoted to systemic medical conditions.
Some lectures were about the influence of PAX6 on the development of the brain, reporting in a certain number of patients anomalies such as the hypoplasia or absence of the pineal gland (causing sleep problems) or sensory issues, such as higher or lower levels in the modulation of sensory responses to stimuli. Some other lectures investigated the possible connections with metabolism and with a suspected higher risk of developing obesity and diabetes in aniridia patients. Some lectures were devoted to the promotion of healthier lifestyles and better eating habits.

During the clinical sessions, the physicians presented and discussed together the most important issues about therapies and treatments of eye conditions commonly associated to congenital aniridia such as glaucoma, cataract, anomalies of the ocular surface and retinal problems, describing conservative and surgical approaches and defining the possible perspectives for improving patient care. Dr. Alvarez de Toledo, a member of Aniridia Europe’s Scientific Committee, gave a lecture on Surgical approaches in aniridia keratopathy: our experience and future trends.
Dr Peter Netland presented the AFI Medical Registry and University of Virginia Gene Bank, that is collecting data and biological samples from aniridia patients in order to study the disease and its associated or suspected associated conditions.

The research sessions presented many studies on the mechanisms of PAX 6 expression and on the role of other regulatory genes; some lectures reported about animal models used to get a better understanding of these mechanisms and to experiment new approaches towards a possible gene therapy for aniridia.
A very interesting lecture was the one about the START therapy, that is being developed at the University of British Columbia. In the recent years pre-clinical trials on mice were successfully performed and now a multicenter clinical trial on humans is ready to start. The patients will be recruited in Canada, USA and UK among those who carry a PAX 6 nonsense mutation, because the therapy seems to work on this kind of genotype. Next years will tell us how promising this therapy is.

The Gala Dinner on Saturday evening was very intense and emotionally involving: physicians, researchers, students and patients met in the monumental Alumni Hall at the University of Virginia and could exchange experiences and have a good time together. We all participated to the Silent Auction and Raffles to raise funds for AFI.
A very touching moment was when we could listen to two young girls affected by aniridia who transmitted through their voices and their meaningful songs the enormous value of solidarity and engagement to face difficulties together.
The meeting gave also the opportunity to launch again the next conferences on aniridia, in Venice (Italy) in 2014 and in Vancouver in 2015.

 

Neven Milivojevic
Vice President

Barbara Poli
Secretary

Invitation and call for grants for our Community meeting in Germany June 1-2nd 2013

View of the market in the old town of Homburg, Saarland

WE ARE BUILDING A STRONG COMMUNITY

Let me tell you that we now are able to give you more details about our next COMMUNITY MEETING, to be held on June 1-2nd 2013 in Homburg/Saarbrücken (Germany), a meeting for aniridia representatives and contact people in the different European countries.

Join us at our major event this year,  it will make a difference.

The more aniridia associations in Europe are, the stronger they are, the stronger our Federation ANIRIDIA EUROPE will be.

Objectives of the meeting

The main goals of this meeting are: To strengthen and expand our network by supporting the development of new aniridia associations and well as finding ways to grow, to be sustainable and to involve more people in our activities.

Topics

The topics are those in the program (attached) but we are open to address any other of common interest. We will send you the final program, with responsibles for each topic and the concrete issues addressed and speakers at the Symposium as soon as we can.

Language

The meeting will be in English, except the conference or “scientic symposium”, where some German doctors with expertise on aniridia will speak on aniridia and associated conditions. The Symposium will be in German, but either translation or slides in English will be available.

Call for grants

Aniridia Europe board is very interested to meet the representatives of as many European countries as possible and does its best to prevent the financial issue from being a barrier to attend the meeting. We have some grants to help you with the travel and stay, a seed money up to 300 € per country. In case there are more than one person applying for the grant from the same country or association, they have to agree or divide this amount of money. Please, feel free to apply for this grant if you cannot afford these expenses. Applicants will be granted according to each case by the board and in order of reception. Do it as soon as possible. The money will be reimbursed when we get your receipts and invoices, this means that you have to pay for your own expenses and then, after the meeting when we have collected all necessary receipts we can send you a bank transfer to your bank account..

We hope you can join us, we will be pleased to welcome all of you there. It will be great to have such a big family with us, then, to have the chance to talk about our concerns and challenges in our daily life. No-one else can understand you better than we do.

 

The German aniridia association is kindly organising this this event.

Should you have any more questions, please, contact me or/and Denice Toews-Hennig at:  denice@aniridieforum.de

 

With my warmest regards and looking forward to seeing you in Homburg.

Rosa Sánchez de Vega
rosa.sanchez@aniridia.eu

Report on Aniridia Europe Board and Scientific Committee joint meeting

Aniridia Europe Science comitee and Board of Directors, in front on the Veneto Eye Bank in Maestre, Italy

Mestre (Venice), Italy, November 18th, 2012

Aniridia Europe Board of Directors and Scientific Committee met at the Veneto Eye Bank Foundation in Mestre, Venice, on November 18th, 2012.

This Scientific Committee, currently composed by five doctors representing five different European countries, has the mission of giving advice to Aniridia Europe Board, fostering research on aniridia and getting involved in the organization of European conferences on the disease.

Patients representatives conveyed their concerns and priorities regarding topics like: European Registry of Aniridia Patients, European Protocol on Aniridia and European research projects on the disease.

To reach this goals, the Scientific Committee suggested that there is a need to involve other health professionals of different specialties in the different countries and to create a network.

The Scientific Committee proposed then to work on getting a consensus for a European protocol on Aniridia. The starting point will be the translation into English of the two already existing protocols (Spanish and Italian)

On the development of a European Registry of Aniridia Patients, the Scientific Committee expressed the availability to collaborate with national and European institutions and organizations involved in registries. They proposed to create a working group composed by four SC members and one patient representative to develop all the aspects related to this issue. The suggested workflow is to start with national registries and to pool data at European level in a second step.

The next European conference on Aniridia, programmed in 2014 in Italy, was also a key topic in the agenda, as well as the possible participation of some SC members in the next Conference on Aniridia, organized by the Aniridia Foundation International AFI in the United States in 2013.

AE – Aniridia Europe Constituting Meeting, 25th of September 2011


REPORT
 

Opening of the meeting

The meeting was opened at 20.00 CET by Rosa Sánchez de Vega. She gave a brief background on the development of the European Aniridia network which led to this constituting meeting. Rosa expressed her regret that due to some administrative problems, at the time of the meeting Finland and France could not participate as full members.

Approval of the agenda

The agenda was approved.

Election of the chairperson of the meeting

Rosa Sánchez de Vega was chosen to be chairperson of the meeting.

Election of the secretary of the meeting

Barbara Poli was chosen to be secretary of the meeting.

Election of a person to check the minutes and to serve as teller

Ivana Kildsgaard was chosen to check the minutes and to serve as teller.

Establishment of electoral register

Italy (represented by Barbara Poli), Norway (represented by Asbjørn Akerlie), Spain (represented by Rosa Sánchez de Vega ), Sweden (represented by Ivana Kildsgaard) and United Kingdom (represented by Katie Atkinson ) are verified to be full members. Belgium, Bulgaria, Croatia, Denmark, Finland, France, Germany, Greece, Poland, Portugal, Serbia are verified to be affiliated members without the right to vote.

Decision to establish the federation

Participants decided to unanimously establish the federation. 

Decision on the name and location of the federation

It was decided that the federation shall bear the name “Aniridia Europe” and that its seat shall be in Norway. The exact host city has not yet been determined.

Decision to approve and adopt the statutes

It was decided to approve and adopt ”Aniridia Europe statutes” as the statutes of the federation.

Decision on the number of members of the Board of Directors

The decision was reached that the Board of Directors shall be composed of a minimum of 4 (four) members and a maximum of 9 (nine) members. The variable number was decided due the low number of full members of Aniridia Europe federation at the moment and the need to allow for an increase in board members as the number of full members of the federation grows.

Election of the President of the federation

Rosa Sánchez de Vega was elected as the President of the federation.

Election of the Vice-President of the federation

Neven Milivojevic was elected as vice-president of the federation.

Election of the Treasurer of the federation

Sølvi Ørstenvik was elected as the treasurer of the federation.

Election of the Secretary of the federation

Barbara Poli was elected as the secretary of the federation.

Election of possible other members of the Board of Directors

Katie Atkinson was elected as member of the Board of Directors.

Election of a Nominating committee

Hilde Hansen, Ivana Kildsgaard and Corrado Teofili  were elected as a nominating committee, whereof Hilde Hansen was chosen as chair of the nominating committee.

Election of an Auditor

Arvid Meløy was elected as auditor.

Election of possible other trustees

No other trustees were elected.

Decision on membership fees

Participants decided to set the annual membership fee at 30 (thirty) € for full members, 0 (zero) € for affiliated members and 0 (zero) € for honorary members, starting from the year 2012.

Miscellaneous

No miscellaneous questions were discussed.

Closing of the meeting

Rosa Sánchez de Vega invited all the members of Aniridia Europe to participate at the meeting that will be held in Paris, on 19th and 20th November, 2011.

The meeting was closed at 21.20 CET.

AE – Aniridia Europe Meeting, 12th June 2011

REPORT

On June 12th, 2011,a European Aniridia Network meeting was held via Skype.

Participating were delegates from Croatia, Finland, Germany, Italy, Norway, Spain, Sweden and the United Kingdom

Constitution of the federation

The delegates adopted the Final Proposition of new Statutes for Aniridia Europe. It was decided that it would be formally adopted at a Constitutional General Assembly called on Sunday, September 25th, 2011, via Skype and would then become the federation’s Statute.
It was decided that the national Boards of existing Aniridia Associations would be called to sign the Constitutional Paper on Establishment of Aniridia Europe no later than September 25th and that these Boards would also have to appoint a Representative and a deputy Representative for the Constitutional General Assembly.

It was recommended that the Constitutional General Assembly elect a Board of Directors of the federation as well as other necessary trustees. The Board of Directors will be responsible for preparing the next steps of the development of the federation. The election of the Scientific committee has been postponed to the next ordinary General Assembly.
Aniridia Norge was appointed as Temporary Nominating Coordinator whose task will be to gather from EAN members the nominations of candidates for the federation and to present them at the Constitutional General Assembly. 

Candidates must have accepted the nomination before being nominated.

It was decided to call for an ordinary General Assembly in Oslo, Norway at the beginning of June 2012.

Web page and logo

Scientific articles and abstracts are ready and will be soon published on the website. Work on translations is ongoing: Croatian and Danish texts are ready for publication and draft versions of Polish and Dutch texts will soon be revised.

There is a proposal for a logo, but more preliminary work is needed.

Last news about Conference in Oslo 2012

The Conference agreed on the estimated schedule and all the speakers agreed to come. The scientific section of the Conference website is almost ready while information for users and patients will take more time.

 Conference in Germany

A conference of the German support group will be held on the18th of June in Michelau, Bavaria. A local scientist will give a lecture on Aniridia.

AE participation in the AFI Aniridia Conference in the USA, July 2011

Asbjørn Akerlie and Neven Milivojevic will attend the AFI Conference in Athens, Georgia, USA. Their participation will help promote the Oslo conference and will also offer the opportunity to create personal bonds and to discuss the possibility of future cooperation between AE and AFI.

Paris, November 19th-20th, 2011

Board and Networking meeting

REPORT

On November 19th and 20th, 2011, in Paris, the first Board and Networking Meeting was held, since the formal constitution of Aniridia Europe, the Federation of European aniridia associations.

Participants came from Spain, Norway, Sweden, United Kingdom, Italy, Germany and Bulgaria. They represented a network of people and organizations from seventeen European countries.

The President, Ms.Rosa Sánchez de Vega, opened the meeting on Saturday with the document Aniridia Europe in 2020. The medium-term objective that was stated was to ensure that within 2020 every child born with aniridia will receive proper medical and social assistance, This will require the creation of a strong network of patients across borders, working within the framework of EU rare diseases policies and protocols.

All participants focused on the following aim: promoting the creation of new associations in countries where they have not  already been established, analyzing all the different strategies and opportunities experienced by existing associations in the past and developing a handbook laying out standards of good practice.

Mr. Asbjorn Akerlie, member of the Organizing Committee, gave a report on the International Conference on Aniridia, that is to be held in Oslo from the 8th to the 10th of June 2012. The program is almost complete, with the participation of  among the world’s most important medical experts on aniridia. They will  be discussing key issues to improve  the knowledge of the disease and the treatment of patients.

On Sunday, the Board meeting discussed the issues concerning the development of the federation and adopted the logo. This session confirmed that  Aniridia Europe can rely on the work and commitment of a lot of people in different countries, who have accepted to undertake the completion of  tasks for the federation, over the next few months.

Time was also dedicated towards the creation of a Scientific Committee, which will assist the Federation in developing a platform for cooperation between the representatives of patients and researchers and clinics working on aniridia and related conditions.

A students exchange project, proposed by the Spanish association, was also approved and will be developed in the near future.

 

Paris, 21st of November 2010

 
EAN – European Aniridia Network Meeting

REPORT

On November 21st, 2010, the second European Aniridia Network Meeting was held in Paris. Participants came from France, Italy, Norway, Spain, Sweden and the United Kingdom. 

After a short update on the status of their national associations, the delegates then analysed the EU programmes on rare diseases.

The EU 2010 Call for proposals has a section on rare diseases and registers. The programme specifically supports the creation of new registers with the aim of increasing knowledge on RD and the development of  clinical research in order to achieve a sufficient sample size for epidemiological research and/or clinical research.

It was recognised, however, that there are several criteria to be met before applying for funding. Among them are: organization at European level, technical and organizational quality, and co-funding through the involvement of public and private partners.

Though all present considered such type of projects important and relevant for aniridia, the conclusion was reached that the European Aniridia Network of national associations is not yet ready to take on a project of these dimensions.

It was decided that to take on such goals EAN would need the following:

  • Human resources, that is a fully committed working group;
  • A formal organisation, probably in the form of a federation;
  • A main partner – preferably a public research institution;
  • One or more private partners working in a relevant field.

The conclusion was reached that EAN members will independently look for suitable public and private partners. The objective would be to initiate  a process that will lead towards viable partnerships and thus place our association in a strong position to apply for funding in EU programmes in the future.

Participants then focused on strengthening the network, which means reaching out to  countries where there is no existing national association and improving the interaction and communication between the associations within the network.

To achieve the enlargement of the network delegates agreed to adopt a new mentoring system whereby each established association will mentor one or two countries. The goal will be to help establish new national associations by:

  • Inviting reference persons to European meetings and conferences;
  • Fund-support for start-ups;
  • Providing information in several languages through the European website.

Delegates also agreed to enhance interaction between associations by:

  • Coordinating and formalizing on a European level;
  • Working on a definition of the aims of the network;
  • Having regular meetings, e.g. using opportunities such as European RD meetings and remote communication platforms;
  • Sharing information;
  • Supporting the development of the European website, with content in the languages of countries where there is not yet an association;
  • Participating in national meetings/conferences;
  • Developing common advocacy strategies regarding research on aniridia.

Delegates also agreed that EAN needs a name and a logo that can be used in communication and on the website.

As for the development of the existing EAN website, delegates decided to establish a working group with the task of analysing the current situation of the website, deciding how many and which domains are to be bought, finding an CMS which was accessible, cheap and not too ambitious and deciding on the framework and content. It was decided that this working group should give a report on this by the end of January 2011.

It was also decided that the website should contain:

  • information on the existing associations;
  • reference persons for countries where there isn’t an association, to give the opportunity to bring people of the same country in contact;
  • regular news updates from national associations;
  • information about medical studies and ongoing research projects;
  • reference to national and international guidelines on aniridia. where existing;
  • a guide on how to start an association.

Delegates consider social media like blogs, Facebook, Twitter etc. an interesting  way to publicise activities and bring people in contact, but pointed out that it must always be clear that this kind of information has to be distinguished from scientific, medical or official information coming from doctors, research centres or patients representatives.

Agenda of European Aniridia Specialists Meeting 2008

 

“Creation of Aniridia network of specialists strengthening of pathology expert base “

Hotel Saratoga 
Paseo de Mallorca, 6. Palma de Mallorca 
Tfno.: 0034 971 727242

 

Friday, 2 de may 

Morning : Scientific meeting – National and European professionals only –

8.30 – 9.00 h – Receipt of documentation

9.00 – 9.15 h – Opening session, welcome message and objectives of the workshop. Spanish Aniridia Association.

9.15 – 10.00 h – Spanish Protocol on the management and care of Aniridia patients. Evaluate developing a European protocol on Aniridia. 

  • Dr. Álvarez de Toledo. Opthalmology Center Barraquer. Barcelona – España 
  • Dr. Pérez Santonja. Opthalmology Institute Vissum Alicante. – España

10.00 – 11.30h – Current situation in the diagnosis and care of Aniridia patients. Studies and projects in each country.

  • Dr. Calvas : Service de génétique medicale. Hospital Purpan. Toulouse. France 
  • Dr. Grolla: School for Medicine Human Genetics. Salisbury. United Kingdom 
  • Dra. Edén: University Hospital. Lund. Sweden 
  • Dr. Dufier: Centre de Référence des maladies rares en ophtalmolgie. Paris. France 
  • Dra. Papadolus: Moorfields Eye Hospital. United Kingdon 
  • Dr. Rama: San Raffaele Hospital. Milan, Italia 
  • Dra. Tornquist: University Hospital. Lund. Sweden Dra. 
  • D’Elia: Istituto di Genetica. University hospital. Udine. Italy 
  • Dra. Vigano: San Raffaele Hospital. Milan, Italia

11.30 – 12.00h – Coffee break / Press conference. 
Spanish Aniridia Association

12.00- 12.45h – Development of a European Research Proyect on Aniridia to submit to the European Commission. Steps forward. 
Brainstorming.

12.45 – 13.30 h – Centres/Units of Reference for patients with Aniridia in each countries.

13.30 – 16.00 h – Group lunch

AFTERNON: GENERAL MEETING OF ANIRIDIA PATIENTS WITH SPECIALIST

– Open session –

16.00 – 16.15h – Round Table. Spanish Professionals
Presentation and Agreement on the “Protocol to be used with Aniridia patients“.
Dr. Alvarez de Toledo, Dr Pérez Santonja . Explanation of checks to be done the next day.

16.15 – 16.45h –Round table. European professionals
Brief explanation of the initiatives in each European country. 
One representative per country.

16.45 – 17.15 h – Q & A session

17.15 – 17.45h – Roundtable. Comprehensive Rehabilitation through daily 
activities ( AVD)
Integral rehabilitation programmes for blind or visually handicapped patients. Dña Concepción Blocona. 
ONCE Technical Rehabilitation Specialist.

“How to improve Aniridia patient´s quality of life”. 
D. Ángel Barañano Optical Opthometrist and specialist in Low 
Vision.

17.45 – 18.15h – Q & A

18.15 – 1845h – Patient associations: promoting research.
Aniridia associations in different countries.

  • Spain: 
    Rosa Sánchez de Vega 
    Yolanda Asenjo 
  • France
    Gaelle J.
    Gaelle Lancelin
    Ines de Leudeville
  • Italy 
    Barbara Poli
    Corrado Teofili
  • Norway 
    Hansen Hilde
    Arvid Melo

18.45 – 19.00h – Q & A

 

DAY`S CLOSURE / CELLO PIECE BY ALEJANDRO YÉBENES

SATURDAY, 3 May

09.00 hrs

Opthalmologic checks and simple taking by Spanish opthalmologists of the Protocol Book 
Hospital Instituto Balear Oftalmológico (IBO), C/ Camino de la Vileta, Palma de Mallorca.