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>Projects funded in 2001: description and outcomes

Area of activity
Transnational collaboration on rare diseases
Monitoring, surveillance, early warning for clusters of rare diseases

Title of Project

EUROCAT 2: Surveillance of congenital anomalies in Europe (Phase 2)

Organization

Name:

UNIVERSITY OF ULSTER

Address:

Cromore Road - BT52 1SA Corelaine Co.
UK - LONDONDERRY(Nothern Ireland)

Contact persons:

Barbara NORTON
(Eurocat Administrator, Eurocat Central Registry)
Room 15E12
Faculty of Life and Health Sciences
University of Ulster at Jordanstown
Shore Rd, NEWTONABBEY
UK-Co Antrim BT37 OQB (Nothern Ireland)

Tel: 0044/(0)28 90366639
Fax: 0044/(0)28 90368341
e-mail: eurocat@ulst.ac.uk
Web site: www.eurocat.ulster.ac.uk

Helen DOLK
(Project leader)
Room 15E12
Faculty of Life and Health Sciences
University of Ulster at Jordanstown
Shore Rd, NEWTONABBEY
UK - Co Antrim BT37 OQB (Nothern Ireland)

Tel: 0044/(0)28 90 368540 / 366639
Fax: 0044/(0)28 90 368341
E-mail: H.Dolk@ulster.ac.uk
Web site: www.eurocat.ulster.ac.uk

Countries participating

Member States

X

Austria

X

Germany

X

The Netherlands

X

Belgium

Greece

X

Portugal

X

Denmark

X

Ireland

X

Spain

X

Finland

X

Italy

Sweden

X

France

Luxembourg

X

United Kingdom

EFTA / EEA Countries

Iceland

Liechtenstein

X

Norway

Candidate Countries

X

Bulgaria

Latvia

Slovakia

Cyprus

Lithuania

Slovenia

Czech Republic

X

Malta

Turkey

Estonia

Poland

X

Hungary

Romania

Others

X

Switzerland

Starting date and
duration of project

- 01/12/2001
- 25 months

Budget

Total cost: 570.105,85

Subsidy from the Commission: 383.280,00

Statement of the project's aims

The aim of the project is to carry out epidemiologic surveillance of congenital anomalies in Europe (Action 4). The specific objectives of this funding proposal are:

1. To develop within EUROCAT an Information and Advisory Service for the management of Clusters of congenital anomalies and of Environmental exposure incidents.

2. To strengthen the capability of EUROCAT to function as an early warning system for new teratogenic exposures, with particular attention to statistical methods, follow-up of monitoring results, and monitoring of multiple malformations.

3. To consolidate EUROCAT as the focus for epidemiological information on congenital anomalies in Europe, in particular through effective use of the internet.

4. To exploit the power of transnational co-operation in data collection and exchange of expertise to address issues of concern regarding birth defect prevention and service delivery, in particular primary prevention of neural tube defects and trends in prevalence of Down syndrome.

Ouctomes of the project

Final report, June 2004pdf(463 KB)

>Reports:

Report on the Prevention of Neural Tube Defects by Periconceptional Folic Acid Supplementation in Europe, May 2003:

> Executive summarypdf(140 KB)

Part I : Overviewpdf(378 KB)
Part II.A : Country Specific Chapters (Austria to Ireland)pdf(325 KB)
Part II.B : Country Specific Chapters (Italy to UK)pdf(386 KB)
Part III.A : Appendices 1, 2 and 3pdf(451 KB)
Part III.B : Appendices 4 and 5pdf(356 KB)

Other publications and reports: Eurocat - publications and data


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Area of activity
European information network on rare diseases

Title of Project

SCN - European network on the epidemiology, pathophysiology
and treatment of severe chronic neutropenia

Organization

Name:

ABTEILUNG KINDERHEILKUNDE IV -
PÄDIATRISCHE HÄMATOLOGIE UND ONKOLOGIE -
MEDIZINISCHE HOCHSCHULE HANNOVER

Address:

Carl-Neuberg-Strasse 1

D-30625 - HANNOVER

Telephone / Fax:

+49.511.55.71.05 /
+49.511.55.71.06

Web site:

http://www.mh-hannover.de

E-mail:

scnir@mh-hannover.de

Contact persons:

Karl WELTE
E-mail: welte.karl.h@mh-hannover.de

>Beate SCHWINZER
(Project co-ordinator)
Clinical Manager
Europazentrale des Internationalen Registers für schwere chronische Neutropenien
Kinderklinik
Medizinische Hochschule Hannover
D-30623 Hannover
Tel: +49.511.55.71.05
Fax: +49.511.55.71.06
E-mail: Schwinzer.Beate@mh-hannover.de

Web site: www.severe-chronic-neutropenia.org

Countries participating

Member States

Austria

X

Germany

X

The Netherlands

X

Belgium

X

Greece

Portugal

Denmark

X

Ireland

X

Spain

Finland

Italy

X

Sweden

X

France

Luxembourg

X

United Kingdom

EFTA / EEA Countries

Iceland

Liechtenstein

X

Norway

Candidate Countries

Bulgaria

Latvia

Slovakia

Cyprus

Lithuania

Slovenia

Czech Republic

Malta

Turkey

Estonia

Poland

Hungary

Romania

Others

X

Israel

Starting date and
duration of project

- 30/12/2001
- 36 months

Budget

Total cost: 195.662,68

Subsidy from the Commission: 131.677,00

Statement of the project's aims

1. Establishment of a European information network: enroll and follow-up severe chronic neutropenia (SCN) patients through longitudinal studies emphasising the diversity of genetic disorders with SCN, different responses to treatment, disease related complications, and different ethnic backgrounds, by using the existing European database of the Severe Chronic Neutropenia International Registry.

2. Training and updating professional skills: disseminate information on the causes, pathophysiology and treatment of SCN through an interactive Web page for all European partners with different access for patients, physicians, researchers and Registry staff in conjunction with the existing forum of the EU. Create annual reports for the European partners, handbooks for patients and physicians, publications for medical journals. Organise research symposia in conjunction with scientific meetings.

3. Promotion of transnational cooperation: recruit ultimately all European countries as partners of this network. Co-ordinate research projects, especially on the genetic and molecular causes of the diseases and the evolution of SCN patients to myelodysplasia and leukaemia via internet forum, collect and distribute biological materials (i.e. cells, DNA, RNA and serum), organise annual meetings for all European partners to create and edit diagnostic, therapeutic and preventive standards for SCN.

4. Surveillance of rare diseases at Community level: identify laboratories of expertise for diagnostic evaluation and clinical research, therapy centres for standard and specific treatment.

Outcome of the project

Final report, December 2004 pdf (159 KB)>



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Area of activity
European information network on rare diseases

Title of Project

A European information network on paediatric rheumatic diseases

Organization

Name:

PRINTO (Paediatric Rheumatology International Trials Organisation)

Address:

IRCCS Istituto Giannina Gaslini
Pediatra 2
Largo Gaslini, 5
I-16147 GENOVA

Telephone / Fax:

+39.010.56.36.211 / +39.010.56.36.211

Web site:

http://www.printo.it

E-mail:

pediatria2@opsedale-gaslini.ge.it

Contact persons:

Nicolino Ruperto
(Project manager)
Tel: +39.010.38.2854 or 39.3425
Fax: +39.010.39.3324 or 39.3619
e-mail: >nicolaruperto@ospedale-gaslini.ge.it

Alberto Martini
(Scientific co-ordinator)
Tel: +39.010.56.36.386
Fax +39.010.56.36.211 or 38.6197
e-mail: albertomartini@ospedale-gaslini.ge.it

Web site: http://www.printo.it/pediatric-rheumatology

Countries participating

Member States

X

Austria

X

Germany

X

The Netherlands

X

Belgium

X

Greece

X

Portugal

X

Denmark

X

Ireland

X

Spain

X

Finland

X

Italy

X

Sweden

X

France

X

Luxembourg

X

United Kingdom

EFTA / EEA Countries

Iceland

Liechtenstein

Norway

Candidate Countries

Bulgaria

X

Latvia

X

Slovakia

Cyprus

Lithuania

Slovenia

X

Czech Republic

Malta

X

Turkey

Estonia

Poland

X

Hungary

Romania

Others

X

Israel

X

Switzerland

Starting date and
duration of project

- 16/12/2001
- 24 months

Budget

Total cost: 204.523,02

Subsidy from the Commission: 142.670,00

Statement of the project's aims

The aim is to promote the development of a European information network on the paediatric rheumatic diseases (PRD). This network will provide information about this group of diseases: juvenile chronic arthritis, childhood lupus erythematosus, juvenile dermatomyositis, scleroderma, vasculitis, rare form of arthritis, and the many other rare diseases that may present with osteo-articular complaints. OF NOTE the PRD are the most frequent group of childhood rare diseases, highly chronically debilitating with deleterious effects on the quality of life of a growing children.

This network aims at becoming a competent referent for health professionals, researchers, families and volunteer association to help patients, seeking information about the PRD not only in Europe but also outside Europe.

Outcomes of the project

>Executive summary of the final reportpdf (55 KB)

> Final report, December 2003pdf (1.7 MB)

>Web site:

Information per country on paediatric rheumatic diseases



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Area of activity
European information network on rare diseases
Training on rare diseases
Transnational collaboration on rare diseases

Title of Project

Rare pulmonary diseases - establishment of diagnostic criteria and reference/training centers

Organization

Name:

INSTITUTE OF PATHOLOGY
UNIVERSITY OF GRAZ

Address:

Auenbruggerplatz 25

A-8036 - GRAZ

Telephone:

+43.316.380.4400
+43.316.380.4401

Fax:

+43.316.38.43.29

Web site:

http://www.kfunigraz.ac.at/patwww/index.html

E-mail:

Contact person:

Helmut H. POPPER
Laboratories for Molecular Cytogenetics,
Environmental and Respiratory Tract Pathology
Tel: +43.316.380.4405
Fax: +43.316.384.329
E-mail: helmut.popper@meduni-graz.at
Web site:
http://www.kfunigraz.ac.at/patwww/umweltpat/
rarediseases.html

Countries participating

Member States

X

Austria

X

Germany

The Netherlands

Belgium

Greece

X

Portugal

X

Denmark

Ireland

X

Spain

Finland

X

Italy

X

Sweden

France

Luxembourg

X

United Kingdom

EFTA / EEA Countries

Iceland

Liechtenstein

Norway

Candidate Countries

X

Bulgaria

Latvia

Slovakia

Cyprus

Lithuania

Slovenia

Czech Republic

Malta

X

Turkey

Estonia

X

Poland

Hungary

Romania

Others

X

Switzerland

Starting date and
duration of project

- 01/10/2001
- 12 months

Budget

Total cost: 110.919,51

Subsidy from the Commission: 62.982,80

Statement of the project's aims

The proposed project has the aim of establishing the minimal and maximal criteria and standards for making the diagnosis of one of the many listed rare pulmonary diseases, to train and improve the skills of professionals to make the diagnosis of these diseases, establish reference centers over all Europe, where the diagnoses can be made, to establish a transnational network for research in these rare diseases, and to provide an easily understandable explanation of the pathology and pathobiology for each of these diseases for patients suffering from one of these diseases, and to provide addresses for treatment centers.

Outcomes of the project

Final report, September 2002pdf (109 KB)

Web site of the project:

Minimal and maximal criteria and standards for making the diagnosis of one of the many listed rare pulmonary diseases



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Area of activity
European information network on rare diseases

Title of Project

New communication technologies (web site)
to the service of the rare disorders network and sharing of good practices
in different help services to patients, already existing in Europe (Hot line) (PARD 2)

Organization

Name:

EURORDIS (EUROPEAN ORGANISATION FOR RARE DISORDERS)

Address:

Hôpital Broussais
102, rue Didot
F-75014 - PARIS

Telephone / Fax:

+ 33.1.56.53.52.10 / + 33.1.56.53.52.15

Web site:

www.eurordis.org

E-mail:

eurordis@eurordis.org

Contact persons:

Claire MARICHAL
(Project coordinator)
Tel: + 33.1.56.53.52.11
E-mail: claire.marichal@eurordis.org

>Yann LE CAM
(Chief executive officer)
Tel: +33.1.56.53.52.16
E-mail: yann.lecam@eurordis.org

Countries participating

Member States

Austria

X

Germany

X

The Netherlands

X

Belgium

X

Greece

X

Portugal

X

Denmark

X

Ireland

X

Spain

Finland

X

Italy

X

Sweden

X

France

Luxembourg

X

United Kingdom

EFTA / EEA Countries

X

Iceland

Liechtenstein

Norway

Candidate Countries

Bulgaria

Latvia

Slovakia

Cyprus

Lithuania

Slovenia

Czech Republic

Malta

Turkey

Estonia

Poland

Hungary

Romania

Others

X

Switzerland

Starting date and
duration of project

- 01/12/2001
- 13 months

Budget

Total cost: 136.285,43

Subsidy from the Commission: 90.000,00

Statement of the project's aims

The result of the feasibility study will be the detailed planning and budget for the building, testing, implementation, operation and maintenance of a portal site on rare disorders in Europe. It will also be a preliminary model for affiliation of information suppliers, i.e. a preliminary answer to questions such as how to organise and anchor administratively the de-central supply of information to the portal and the possible «outsourcing» of services, a detailed requirements specification for the implementation of the EURORDIS portal.

On the basis of the preliminary model for affiliation of information suppliers developed in the feasibility study, the information suppliers identified could be invited to join the second phase of the portal project as project partners. The perspectives of such affiliation could be a Community Network of experts on rare diseases after year 2002.

Outcomes of the project

Executive summary of the final report pdf (58 KB)

Final report, March 2003pdf (110 KB)

Annexes of the final report:

Annex 1:PARD 2 Project: Compilation of National Alliances' contributions, Barcelona Workshop, June 15th, 2002pdf (24 KB)
Annex 2:Websites Dealing with Rare Diseases : overview (March 2003)pdf (26 KB)
Annex 3:Template of form to be filled in by National Helplinespdf (15 KB)
Annex 4:Template of form to be filled in by National Alliancespdf (16 KB)
Annex 5:Structure of PARD 2 Website (updated 15/03/2003)pdf (21 KB)
Annex 6:Eurordis Web Portal on Rare Diseases (design by Eurordis as of February 2003)pdf (934 KB)
Annex 7:Eurordis Web Portal on Rare Diseases (screenshots of Prototype as of March 2003)pdf (654 KB)



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Area of activity
Training on rare diseases

Title of Project

A European educational programme on rare diseases

Organization

Name:

ISTITUTO DI RICERCHE FARMACOLOGICHE "MARIO NEGRI"

Address:

Via Eritrea, 62

I-20157 - MILANO

Telephone / Fax:

+39/02 39 01 41 /
+39/02 35 46 277

Web site:

http://www.marionegri.it

E-mail:

mnegri@marionegri.it

Contact persons:

Giuseppe REMUZZI
(Project leader)
E-mail: remuzzi@marionegri.it

>Danelia MELACINI
(Research project administration & assistance)
Mario Negri Institute for Pharmacological Research
Via Gavazzeni, 11
IT - 24/25 BERGAMO
E-mail: melacini@marionegri.it
Tel: +39.035.31.98.88
Fax: +39.035.31.93.31

Countries participating

Member States

Austria

Germany

The Netherlands

Belgium

Greece

Portugal

Denmark

Ireland

X

Spain

Finland

X

Italy

X

Sweden

France

Luxembourg

United Kingdom

EFTA / EEA Countries

Iceland

Liechtenstein

Norway

Candidate Countries

Bulgaria

Latvia

Slovakia

Cyprus

Lithuania

Slovenia

Czech Republic

Malta

Turkey

Estonia

Poland

Hungary

Romania

Others

Starting date and
duration of project

- 01/10/2001
- 24 months

Budget

Total cost: 140.676,81

Subsidy from the Commission: 98.473,77

Statement of the project's aims

This proposal is intended to development of educational programs aimed to:

1. the improvement of communication and cooperation among people professionally interested in rare disease.

2. the improvement of education and training of health professional and people involved in the care of rare diseases (scientist, doctors, nurses, patient support groups).

This proposal is articulated in the following conferences targeted to explore problems common to all patients with rare diseases:
- "Methodology for clinical research on rare disease";
- "Priorities in research and development of orphan drugs";
- "Organization and implementation of Database Registries for Rare Diseases";
- "State of the art of gene therapy for rare diseases";
- "The role of patient support groups: social aspects of rare diseases".
- “Socioeconomic burden of a rare disease on the families”

These conferences are aimed to several target population, which includes health professionals (doctors, nurses, epidemiologist etc), patients support groups representatives, patients with rare diseases, public health authorities involved in regulatory processes, and also public and private companies involved in developing medicinal products or other form of support to patients.

Outcomes of the project

Executive summary of the final reportpdf (69 KB)

Final report, July 2004pdf (203 KB)

Annexes of the final report:

Annex 1: European Symposium "The role of patient support groups for rare disease": Final programme, 08 November 2002pdf (232 KB)
Annex 2: European Symposium "Methodological aspects of clinical trials in rare diseases": Final programme, 10 July 2003pdf (223 KB)
Annex 3: List of participantspdf (77 KB)



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Area of activity
European information network on rare diseases
Monitoring, surveillance, early warning for clusters of rare diseases

Title of Project

CAUSE - Charge Association and Usher Syndrome in Europe

Organization

Name:

SENSE INTERNATIONAL

Address:

11-13 Clifton Terrace

>Finsbury Park

UK-N4 3SR - LONDON

Telephone :

+44.207.272.7774
+44.207.281.4373

Fax:

+44.207.272.6021

Web site:

www.senseinternational.org.uk

E-mail:

info@senseinternational.org.uk

Contact person:

Richard HAWKES
(Director)
Tel: +44.207.561.3308
Fax: +44.207.272.6021
E-mail: rhawkes@senseinternational.org.uk
Web site: http://www.deafblindinternational.org

Countries participating

Member States

Austria

X

Germany

The Netherlands

Belgium

Greece

Portugal

Denmark

X

Ireland

X

Spain

Finland

X

Italy

Sweden

X

France

Luxembourg

X

United Kingdom

EFTA / EEA Countries

Iceland

Liechtenstein

Norway

Candidate Countries

Bulgaria

Latvia

Slovakia

Cyprus

Lithuania

Slovenia

Czech Republic

Malta

Turkey

Estonia

Poland

Hungary

Romania

Others

Starting date and
duration of project

- 01/01/2001
- 18 months

Budget

Total cost: 185.145,96

Subsidy from the Commission: 129.602,17

Statement of the project's aims

Deafblindness is a unique and isolating disability. Sometimes known as dual sensory impairment or multi-sensory impairment, it is more than just a simple combination of visual and hearing impairments. Given that 95% of our understanding of ourselves and the world comes through sight and hearing, deafblind people face enormous challenges. There is a considerable lack of awareness regarding the nature and causes of deafblindness, among the public in general and the wider medical community in particular. This often results in either the misdiagnosis of deafblind children or in a late diagnosis, thereby depriving them of early intervention, which consequently impacts on their development.

Experience has shown that the earlier the intervention, the greater the developmental benefit there is for the deafblind child. This project will therefore aim to ensure greater levels of awareness and understanding of two unique causes of deafblindness: CHARGE Association – a rare congenital condition that can affect different parts of the body; and Usher Syndrome – a genetic condition which causes deafness from birth and sight loss over a number of years.

This will be achieved through the exchange of information, experience and best practice between the members of two EU-wide networks (CHARGE network and European Usher Syndrome Network) and through the development and dissemination of statistical surveys, information and guidance resources and a website.

Outcomes of the project

Executive summary of the final reportpdf (44 KB)

Final report, December 2003pdf (347 KB)



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Area of activity
European information network on rare diseases

Title of Project

ORPHANET 2 (Phase 2)

Organization

Name:

INSERM (Institut National de la Santé et de la Recherche Médicale)

Address:

101 rue de Tolbiac

F-75654 - PARIS Cedex 13

Telephone / Fax:

- / +33.1.43.44.15.48

Web site:

http://www.inserm.fr/

Contact person:

Ségolène AYMÉ
Hôpital Broussais
Inserm SC11
102, rue Didot
F-75014 PARIS
Tel: + 33 (0) 1 56 53 81 37 or 39
Fax: + 33 (0) 1 56 53 81 38
E-mail: ayme@orpha.net
Web site: http://www.orpha.net

Countries participating

Member States

X

Austria

X

Germany

The Netherlands

X

Belgium

Greece

Portugal

Denmark

Ireland

X

Spain

Finland

X

Italy

Sweden

X

France

Luxembourg

United Kingdom

EFTA / EEA Countries

Iceland

Liechtenstein

Norway

Candidate Countries

Bulgaria

Latvia

Slovakia

Cyprus

Lithuania

Slovenia

Czech Republic

Malta

Turkey

Estonia

Poland

Hungary

Romania

Others

X

Switzerland

Starting date and
duration of project

- 01/12/2001
- 12 months

Budget

Total cost: 658.253,00

Subsidy from the Commission: 280.000,00

Statement of the project's aims

The project aim is to offer to the health care professionals, scientists, health authorities, patients and their relatives, the Media and the community at large reliable, up-to-date, relevant information on rare diseases and orphan drugs.

This information will be available on Internet free of charge and will include information on the disease itself, clinical laboratories, research projects, specialised clinics, clinical trials, support groups, other web sites, in a relational database. The textual information will be written by European experts in English and partially translated in other European languages. The resources to be covered will be those located in Europe.

Outcomes of the project

Executive summary of the final reportpdf (20 KB)

Final report, February 2003pdf(561 KB)



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