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