June-July 2007

This month’s TO-DO list

Orphanet partners’ meeting on Monday 26 November in Lisbon

The second partners’ meeting in the framework of our RD portal contract will take place the 26 of November in Lisbon. This gathering will be one of several pre-conference workshops taking place before the European Conference on Rare Diseases held on 27-28 November.

This meeting will be dedicated to an introduction to all the new V4 functionalities. Therefore it welcomes Orphanet’s information scientists. You are invited to complete the attached registration form, and send it back to Valérie F. If you have problems in doing so, you may contact her after the 16 of August (she will be absent in the office from 18 July to 16 August). Furthermore, we will be happy for you to attend the European Conference. Please let us know as soon as possible if you would like to attend. Orphanet is able to finance your transportation and one night in a hotel in Lisbon. If you plan to attend, DO NOT book your own transportation and accommodations or Orphanet will not be able to reimburse you.

You can now visit the European Conference Rare Disease website. We invite you to register and submit a poster abstract. If you need information or data, such as statistics, to write a poster, do not hesitate to contact the Paris team. We draw your attention to the registration deadlines: reduced registration fees are only available before the 31st of July.

1

What we did

Spain, Barcelona, May: the Orphanet team visited the Vall d’Hebron Hospital and presented the Orphanet project to the department chairmen. Dr. Miguel del Campo gave a presentation of the project and encouraged the doctors to register their specialised clinics in the Orphanet database. Orphanet- is planning to use this strategy with other tertiary- care hospitals to obtain more data from clinics and research projects.

Madrid, 7 May: the Spanish Senate unanimously approved a Request to the Government to establish “clinical genetics” as an independent medical specialty, a category that hasn’t been recognised until now. This initiative will result in the recognition of geneticists by the National Health System followed by the organisation of genetics clinics and genetic counselling services in Spanish hospitals.

Rio de Janeiro, Brazil, 17-21 June: Dr. Miguel del Campo, coordinator of Orphanet-Spain and Dr. Luis A Pérez Jurado, Director of the Genetics Department at the University Pompeu Fabra, where the Orphanet-Spain team is located, attended to the “3rd International Conference on Birth Defects and Disabilities in the Developing World” where they gave the following presentations on overgrowth syndromes, Fetal Alcohol Spectrum Disorder, and genetic research and clinical networks:

Miguel del Campo, Spain “Sotos syndrome. Precongress course on overgrowth syndromes” Luís Pérez Jurado, Spain “Genetics services in research and clinical networks” Luís Pérez Jurado, Spain “Overgrowth syndromes, chromosomal anomalies and genomic rearrangements”

Poland, Lodz, 24-26 May: Jolanta Sykut-Cegielska presented a poster entitled “Rare diseases – Poland in the European network ORPHANET” and a short presentation during the XXIX Meeting of Polish Pediatric Society that included the participation of almost 1,000 pediatricians from all over Poland.

2 Poland, Warsaw, 23 June: A 1-day conference was organised by the Department of Metabolic Diseases, Endocrinology and Diabetology with financial support of SHS International, for the families of the patients with rare diseases requiring low-protein diet, such as: maple syrup urine disease, tyrosinaemia type I, methylmalonic aciduria, propionic aciduria, 3-methylcrotonylglycinuria, 3-hydroxy-3-methylglutaryl aciduria and glutaric aciduria type I. Twenty five families, who came together with their children, were provided with current knowledge about management of the aforementioned diseases, availability of low-protein products (they had an opportunity to try some of these products during lunch time). Dr Jolanta Sykut-Cegielska informed the parents about Orphanet and Orphanet-related activities, particularly about Milor and Eclor services, as currently such patient support groups or parents organisations are lacking in Poland. Two board members from the Polish Association of the Help for Affected by PKU “Ars Vivendi” and the General Director of the Polish Patients Federation encouraged the families to set up formal organisations for families and patients with these rare diseases.

Italy, Milan, 24 June: during the meeting “Outcome of Genetic Counseling”, Prof. Dallapiccola illustrated the power and utility of the Orphanet database.

Czech Republic, Prague, 2 March: the National working group for the Rapsody project met in Prague at the premises of the State Institute for Drug Control. This workshop was attended by the head of the Czech general insurance company and officials from the Ministry of Health. Altogether, over 40 participants representing patient organisations, physicians and ministry officials were present. All participants were in agreement that the creation of specialised centers for rare disease will greatly facilitate care for patients. Based on the experience of the two specialised centers that have been established in Czech Republic - National centers for the diagnosis and therapy of Gaucher disease and Cystic fibrosis - the organisation of future specialised centers was discussed.

3 Romania, Cluj-Napoca, 21-24 June: The 6th International Prader-Willi Syndrome Scientific Conference and 1st Romanian Prader-Willi Syndrome and Rare Diseases Conference took place in Romania. The conference was organised by The Prader-Willi Syndrome Romanian Association in collaboration with The International Prader-Willi Syndrome Organisation (IPWSO). The conference addressed families and professionals with the purpose of supporting and educating them about Prader-Willi Syndrome, a genetic disorder that affects appetite, growth, metabolism, cognitive functioning, and behavior. At the conference, parents and professionals shared new approaches in dealing with Prader- Willi Syndrome through meetings and programs designed for children and adults with the syndrome and their siblings. The participants came from various countries in Europe and beyond. During the last day, June 24th, the programme focused on rare diseases in general. Participants presented the situation of the rare disease health programs in different countries: - Onorica Abrudan – Vice-Mayor Zalau; Rare Diseases have to be placed at the centre of our policy making Information tools: - Ségolène Aymé- President Orphanet Europe - Role of a patient organisation to spread information: Example of the International Prader-Willi Organisation, Pam Eisen, President IPWSO - The experience of a small foundation: Kindness for Kids; Dr. Anja Frankenberger–Germany - The different national experiences of organisation of care in Europe: Examples from Italy, France and ,Prof Domenica Taruscio – Italia etc.

Orphanet-Romania was present with 2 posters about Orphanet and the following presentation : Approaching rare diseases in Romania, Prof. Dr. Mircea Covic – President Orphanet Romania

The project, ROMANIAN NATIONAL ALLIANCE FOR RARE DISEASES – RONARD and the book “Essentials in 101 rare Diseases” were also presented during this section.

4 Hungary, 5 June: Gyorgy Kosztolanyi and Ségolène Aymé had a one-hour meeting with Dr Katalin Rapi, State Secretary of Health in Hungary, in presence of Dr Maria Benyi, Head of Department at the National Centre for Healthcare Audit and Improvement where Janos Sandor (Coordinator Orphanet-Hungary) is working. Ségolène presented the current stage of development of Orphanet and the importance of diffusing this type of information to improve the quality of life of patients. She also introduced the Rare Diseases Task Force activities and the French National Plan for Rare Diseases. As she was once a paediatrician, Mrs. Rapi was very open to all these ideas and was very well aware of the issues of rare diseases in children. She explained, however, that Hungary was a small country, in a convergence phase, meaning that severe budget cuts were recently imposed. There is no more than three physicians currently at the Ministry of Health level. Therefore, she is unable to implement any new measures in favour of patients with rare diseases. However, she is expecting health professionals to set up a project which would be relevant for Hungary in the current context. If the professionals are able to come up with a collective suggestion, she will consider it with great attention.

20 June: György Kosztolányi of Orphanet-Hungary and Peter Brunner, Director of the Division of National Healthcare Inspectorate in National Health Institute moved on the preparation of an institutionalised Orphanet-Hungary, and created a draft for establishing a Rare Disease Unit in the Division of National Healthcare Inspectorate. This Rare Disease Unit will act as part of the University of Pécs. They will turn with this initiation to the newly-elected rector of the University after July 1st, 2007.

Switzerland, Bern, 21 June: Dr Loredana D’Amato Sizonenko was invited to the SIAK Network for Cancer Predisposition Testing and Counselling meeting chaired by Dr Pierre Chappuis. It provided the opportunity to introduce and update Orphanet-Switzerland. The audience was very receptive. In addition, as the Orphanet Swiss National Scientific Committee has, at present, no representative for oncogenetics, Dr Loredana D’Amato Sizonenko seized the opportunity of this meeting to ask to the group to elect a member. A decision is pending!

5 , Plovdiv, 4July: The new office of Bulgarian Information Centre for Rare Diseases and Orphan Drugs (ICRDOD) was officially inaugurated by the first ladies of Germany and Bulgaria – Mrs. Eva Kohler and Mrs. Zorka Parvanova. The opening ceremony was attended also by the rector of the Medical University - Prof. Georgi Paskalev, the director of the University Hospital “St. George” - Prof. Iliya Batashki; Mrs. Katia Chomakova – the wife of the mayor of Plovdiv Dr. Ivan Chomakov; Mrs. Julia Geier – the wife of the German ambassador in Bulgaria Michael Geier as well as by representatives of patient organisations of people affected by rare diseases. The new office of ICRDOD is situated on the grounds of the University Hospital “St. George”, 15a “Vasil Aprilov” blvd. (Plovdiv) and will continue its activities with patients, physicians and students.

From left to right: Rumen Stefanov, Eva Kohler, Ilia Batashki, Zorka Parvanova

France, Paris, 25 June: The 8th annual meeting of Orphanet-France with the French patients’organisations was attended by 140 participants from 80 organisations. This year’s topic was the role of Internet on the uptake of adequate services. Marc Hanauer presented an overview of the services that Orphanet provides to patient organisations (unfortunately limited to French organisations). Ana Rath introduced the emergency guidelines that Orphanet is launching as a new product (only in French for the moment). A round table took place to discuss the problems raised by the regulation of mailing lists. The last session was dedicated to the communication on centres of reference: how to make sure that all professionals are aware of them and refer their patients; how to make sure that patients understand which centre is appropriate for their disease; how the centres may communicate about their services. Orphanet will play a major role in this communication in the future through the development of a miniwebsite for each of the 132 centres of reference: quite a challenge for us !!!

Luxembourg, 20 June: During the Rare Disease Task Force meeting, Ségolène Aymé presented Orphanet’s plans in the area of coding and classification of rare diseases and the activity report of the RDTF. Antoni Montserat from the European Commission (EC) presented the scope of the “Communication on Rare Diseases” in preparation. This Communication is going to be a very important document as it will list the priorities that member states and the EC should consider in the field of rare diseases and orphan drugs. One of these priorities will be to ensure the sustainability of Orphanet as the official web portal of the European Commission. A very welcome recommendation ! All partners will be consulted on the first draft of this Communication at the end of August. 6 France, Nice, 16 June: Orphanet partners joined together in a one-day meeting before the European Human Genetics Conference. Ségolène Aymé gave an overview of the activities lead by Orphanet to the new participants. She presented the content of the database, the organisation and funding, the partnerships in which Orphanet is involved, the terms of the new European contract, the support tools for partners and the Orphanet organisation at the country level. The slides presented can be downloaded from Orphanplatform (Orphanet Documents/Powerpoints). An open discussion followed and several issues were raised: - The Orphanet booklet on the 10 years activities is being translated in English and the partners could soon translate it in their own languages. - The new Orphanet participants should focus their activities on collecting genetic counselling clinics. -The next partners’ meeting in Lisbon on the 26 of November will focus on the Orphanet server’s Version 4.

Furthermore, four people were to be elected to establish the new executive management board but instead it was decided that following 5 candidates be elected: Rumen Stefanov, Bulgaria, Joerg Schmidtke, Germany, Loredana D'Amato Sizonenko, Switzerland, Ugur Özbek, Turkey and Sarka Vajralkova, Czech Republic. Thank you in advance to them for this commitment.

France, Nice, 16-19 June: Several Orphanet partners (CH, UK, IT, CY, DE, TK, NO, PT, GR) attended the ESHG meeting in Nice last month providing a great opportunity for partners to share experiences around the Orphanet stand. Posters and leaflets that were used during this meeting are available on the OrphanPlatform website; every Orphanet partner is welcome to translate these Orphanet communication tools and to exhibit them when attending National meetings.

Ségolène Aymé, Dorica Dan and Mircea Covic Cécile Gaudebout presented Orphanet

Cécile Gaudebout, Joerg Schmidtke, Valérie Thibaudeau, Loredanda D’Amato-Sizonenko and Mike Morris from Eurogentest 7 The Orphanet stand had a great impact on the European genetic community. We had numerous visits and submissions of activities for the database. Several experts offered to contribute to the description of some rare diseases in their specialty such as Dermatology (new contacts from Ireland and Bulgaria) or genetic counselling (new contacts from Canada). In addition, some pharma/biotech representatives showed a particular interest in our activities. The stand was located nearby the coffee break so nobody could miss us!

We also spent time visiting other stands and examing in details posters which constituted an enormous source of information (over 1 400 posters) on diseases themselves and some diseases that would be newly introduced into the database.

In addition, we exhibited two posters, one on OrphanXchange activities and the other on EuroGentest activities (posters are available on the Orphanplatform website).

Orphanet Stand and posters

8 What we are planning

Orphanet Foundation

At the partners’ meeting in Nice, Ségolène Aymé announced that the French team was working on the creation of Orphanet as foundation to secure the project in the long term. Since the meeting in Nice, two meetings occurred to discuss this issue with the two French institutions which provide the majority of funding. They both confirmed that the project was welcome and that they were willing to allow the use of the trademark “Orphanet” as the name of the Foundation. They also reported that the funding they are providing will not be transferred to the Foundation which will require its own private budget. The Foundation objectives must now be defined as not to overlap with the mission of the Inserm unit which will continue to exist and to employ people. The next step is to look for private sponsors.. This project will not modify the way the national teams are funded until enough money is found (minimum for the establishment of the foundation: 1 Million Euros). This will not occur before the end of the current EC contract. Of course, you will be kept informed of any new progress.

What’s new at Orphanet

National Scientific Advisory Boards

Most of you have now established national scientific advisory boards. For those of you who have not, it must be done as quickly as possible. We would like to remind you that all the professionals listed in these scientific advisory boards should also be entered in the Orphanet database with their activities (research, clinic or lab) as, by definition, they are all experts. Please make sure that you have done so soon… Thank you

The final Scientific Report is on Orphanplatform

The final scientific report of the last European contract has been posted on Orphanplatform. It summarizes the Orphanet’s activities and the achievement of objectives of the last 3 years.

New collaborators and collaborations

ORPHANET-Bulgaria: Mrs. Ralitza Jordanova has joined the Orphanet network as an information scientist.

9 Funding, projects, software evolution...

Update 2007

The 2007 update process is underway in 10 countries. The planning for updating countries is indicated in Table 1. In the other countries, the update will be scheduled at a later date.

Update Status Date People contacted Launch 10/07/2007 DE and IE Reminder 31/07/2007 1348 and 97 Last reminder 21/08/2007

Table 1. The 2007 update already underway

Statistics

The statistics in the countries where the last reminder has already happened are now available. The number of people contacted, people that did not answer or partially answered and those whose updating process is “closed” are indicated in table 2. Update People contacted Not answered Partially answered Closed FR 2719 25% 4% 54% PT 248 42% 2% 52% UK 624 48% 0% 52% IT 1111 6% 1% 90% CH 203 34% 4% 9% ES 667 52% 4% 46% BE 257 36% 3% 62% NL 269 75% 2% 6%

Table 2. Update statistics

Frequently asked questions?

Q: What should I do if people contacted during the update process do not answer? A: In order to collect as many responses as possible, you are expected to call the professionals one by one and update their activities.

Q: How long will the Subor forms be available once the update process has been launched? A: All the forms will be accessible at least until the V4 database is available.

10 New Orphanet data

Access to the data/5files Orphanet partners that do not have yet their own login and password to access Orphanet country- specific data and the total list of diseases, will receive them at the end of July by regular mail. The files containing these data are named "data/5files", and are listed "here". The data/5files content is described in details here. For a few countries (Croatia, , Luxemburg, Malta, Serbia, Tunisia) whose files are not yet integrated in the database, files will only be available on the V4 version of Orphanet at the end of the year. In the next few weeks, an agreement will be sent to be signed by the duly authorized representative of the partner institutions in order to specify the rules of use for these data that can be freely used by the partners only within the framework of their activity on behalf of Orphanet.

Disease creation and correction

Report of the May-June meeting concerning disease creation, modification and deletion. See the report

Priority actions from this disease meeting (RM1-V2) are the processing of resources linked to diseases that need to be deleted: please reallocate them to the relevant diseases in order to allow us to definitively delete the diseases. You are also expected to identify relevant specialists and patient organisations, especially for the diseases which have been newly added.

Clinics/classifications creations

Eight consultation types have been recently created :

Disorders of hormones receptors clinic Gilles de la Tourette syndrome clinic Diaphragmatic hernia clinic Syringomyelia clinic Autoinflammatory syndromes clinic Iron overload diseases clinic Pediatric neurovascular malformations clinic Congenital cerebellar diseases and malformations clinic

You can see the related diseases for each type in this excel file.

11 New identified data sources AnEuploidy

This is a network website providing relevant information for some of you:

“AnEUploidy: understanding gene dosage imbalance in human health using genetics, functional genomics and systems biology” It is linked to Down Syndrome (ID116) and Williams syndrome (ID145). AnEUploidy is an Integrated Project (IP) funded by the European Commission within its Sixth Research and Technological Development Framework Programme under the thematic area “Life sciences, genomics and biotechnology for health” (FP6-2005-LIFESCIHEALTH-7). The project consists of 17 partners across Europe. This network has already been entered in Switzerland. You can find information for France, Spain, Israel, Germany, Czech Republic, Netherlands, Italy and United Kingdom.

EuReGene EuReGene is the European Renal Genome Project currently listed in Orphanet for professionals in 8 different countries (DE, BE, DK, FI, FR, IT UK, CH). For data quality purposes, it was decided that no disease would be linked to the network as the group of renal genetic diseases is a very large group, and professionals involved in the network are not necessarily considered as experts for all renal genetic diseases. Instead, it will be more efficient to collect and enter specific activities of each EuReGene member.

New Orphanet publication

Two Orphanet report series have been updated! The update of “Prevalence of Rare Diseases” has been published in July 2007. You can now read this bibliographic study in six languages : English, French, Italian, Spain, Deutsch and Portuguese. The “List of Marketing Authorized Orphan Drugs in Europe” has also been published in English. The French, Deutsch, Italian, Spanish and Portuguese versions are being translated and will be online soon!

Tools for your mission

Detailed response to a frequently asked question

Q: What happens when a professional listed on Orphanet moves countries?

A: When a person listed on Orphanet moves to another country, the PrsId must be kept in the database with specific information including email address and specialties. The new location, as well as her/his new activities have to be then created by the new corresponding Orphanet partner before any deletion of previous activities. In any case, the Paris team must be informed if persons are moving countries to make sure that the process goes smoothly. Once activities are correctly linked to location and person, old activities can be deleted.

12 New tool

Have you read some important information in a former OrphaNetWork issue but you don’t remember which one!? You can now easily find it in the OrphaNetWork-Index document that you can download on the Orphanplatform (Orphanet documents/ Communication – Media – Press release). It is a pdf file bringing together the OrphaNetWork issue in an inverse chronological order. To search news, you have just to click ctrl+F and enter the word you are interested in.

Zoom on a procedure point

How to read the monthly disease meeting report.

In order to highlight the action that have to be done urgently, the plan of the disease meeting report has been modified :

-First, you will see a summary table with all the diseases that will be deleted and created. Please verify that the resources linked with each of the deleted diseases are re-linked with relevant diseases. Otherwise, you will lose all this data when the deletion of diseases is implemented. In order to help you in this task refer to Part I of the report where actions that should be done are detailed.

-The actions done (by the French team) are listed in Part II of the report.

New documents published on Orphanplatform website

As you have read in this issue, a number of new documents have been published in Orphanplatform. You can now access : - the final scientific report (Orphanet documents/Contract 2004-2007) - the SOPs updated (Orphanet Documents/Procedures-SOPs) - the slides presenting Orphanet in the last partners’ meeting (Orphanet Documents/ Powerpoints) - the posters presented at the ESHG (Orphanet Documents/ Powerpoints) - the OrphaNetWork-Index document (Orphanet Documents /Communication - Media - Press Release )

13 Monthly statistics

Total Data of services Country Name New Data June 2007 May 2007 Austria 613 614 -1 767 775 -8 Bulgaria 69 69 0 Cyprus 96 96 0 Czeck Republik 169 169 0 210 210 0 Estonia 73 73 0 Finland 258 258 0 France 8204 8253 -49 Germany 4200 4077 123 Greece 265 265 0 Hungary 101 101 0 Ireland 152 149 3 Italy 3946 3815 131 Lebanon 7 7 0 Lithuania 8 6 2 Morocco 25 25 0 Netherland 835 833 2 Norway 135 135 0 Poland 12 12 0 Portugal 645 645 0 Romania 72 72 0 Slovenia 14 14 0 Slovakia 12 12 0 Spain 1971 1913 58 16 16 0 Switzerland 594 595 -1 Turkey 99 99 0 United Kingdom 1784 1736 48

OrphaNetWork, the Orphanet in-house newsletter Editor-in-chief : Annie Olry ([email protected]) 14 Editorial board : Ségolène Aymé, Matthieu Levi-Strauss, Valérie Fonteny, Valérie Thibaudeau, Ana Rath, Anna Kole