Networks of action for rare diseases

Introduction

Projects have been supported under the Programme for Community Action on Rare Diseases in 1999-2003; the EU Public Health Programme 2003-2007 and the second EU Health Programme 2008-2013. 

The aims have been to improve the exchange of information via existing European information networks on rare diseases, to promote better classification, to develop strategies and mechanisms for exchanging information between people affected by a rare disease, volunteers and professionals, to define relevant health indicators and develop comparable epidemiological data at EU level, and to support an exchange of best practise and develop measures for patient groups.

1. The EU EUROCAT project ( Surveillance of congenital anomalies in Europe)

Under the coordination of the University of Ulster, Northern Ireland (UK), this project is a European network of 51 registries in 28 countries for the epidemiological surveillance of congenital anomalies. Currently, more than 1 million births per year in Europe are surveyed. Some of the main objectives are to:

  • provide essential epidemiological information on congenital anomalies in Europe based on a common dataset with common coding as specified in the EUROCAT Guide and the EUROCAT Data Management Programme (EDMP) used by member registries for data input/import, validation and annual transmission to the central registry,
  • act as an information and resource centre for the population, health professionals and managers regarding clusters or exposures or risk factors of concern,
  • provide a ready collaborative network and infrastructure for research into the causes and prevention of congenital anomalies and the treatment and care of affected children, and
  • survey policies and practices with regard to periconceptional folic acid supplementation.

In 2009, EUROCAT updated its report on neural tube defects (NTD) rates in 18 European countries in the context of folic acid policy and practices. The report, available on the EUROCAT website, demonstrates that more countries have begun issuing advice to women to take periconceptional folic acid. No country has yet introduced mandatory fortification of food with folic acid, however, although the policy is being advised in several countries. The decline rate in NTD remains disappointing.

See:

EUROCAT 4: Surveillance of Congenital Anomalies in Europe (Phase 4)

EUROCAT 3: Epidemiological Surveillance of Congenital Anomalies in Europe (Phase 3)

EUROCAT 2: (Phase 2)

EUROCAT 1: (Phase 1)

2. The EU ENERCA project ( European Network for Rare Congenital Anaemias)

Under the coordination of the Hospital Clínic i Provincial de Barcelona, Catalonia (Spain), ENERCA is a source of information about rare congenital anaemias including

  • a detailed list of centres which specialise in these illnesses,
  • definitions of all the rare congenital anaemias, including congenital red cell enzyme deficiencies, congenital red cell membrane defects, congenital haemoglobinopathies, congenital erythropoyesis defects, etc,
  • information about national and international organisations for every country involved in the project, and
  • standardised services for these diseases to ensure that the correct tests are performed and a correct diagnosis is made.

In addition to congenital anaemias the ENERCA-II Project covered all rare causes of anaemia, either hereditary or acquired. Other objectives were to:

  • establish referral laboratories or experts to provide professional assistance and information,
  • make information about their disease readily available to patients,
  • facilitate a prompt response in emergencies,
  • provide an officially endorsed website and restricted access database giving professionals an on-line forum and member newsletters,
  • carry out epidemiological data studies to monitor the occurrence of congenital anaemias at national and local level and create a registry for rare congenital anaemias,
  • carry out systematic neonatal screening in European countries without existing databases,
  • promote the exchange of information between different research groups in order to improve the understanding of molecular and genetic mechanisms of congenital rare anaemias,
  • prepare European guidelines for the diagnosis and clinical management of rare congenital anaemias and
  • establish a quality-control system for the laboratory diagnosis of anaemia and for thalassaemia trait. Improve detection time and apply a uniform approach to the prevention, diagnosis and treatment of rare congenital anaemias.

Further reading:

ENERCA 2

ENERCA 1

3. The EU SCN project - European network on the epidemiology, pathophysiology and treatment of severe chronic neutropenia

Under the coordination of the Medizinische Hochschule Hannover (Germany), the aim of this project was to build a comprehensive European information network to gain substantial knowledge of severe chronic neutropenia (SCN) and all aspects of its pathophysiology and therapy. Patients with SCN may suffer from different types of neutropenia. The main subtypes are congenital neutropenia, cyclic neutropenia and idiopathic neutropenia. The core facility of the network is a common, Internet-accessible database on severe chronic neutropenia, established during this project and available to all partners in the European network. The new database system is based on the European data fraction of the Severe Chronic Neutropenia International Registry.

The European database on Neutropenia collects both general and specific information, e.g. on malignant transformation, bone marrow transplantation and outcome. All the information in the database of the European Branch of the Severe Chronic Neutropenia International Registry is disseminated among the members of the network, the so-called "Local Liaison Physicians" or LLP, in order to keep the professional skills of the European network partners up-to-date, a benefit which in turn will be passed on to other physicians in the participating countries.

4. The EU Rare Forms of Dementia project

Under the coordination of Alzheimer Europe (Luxembourg), this is a database of information about rare forms of dementia available to the general public. The information in the database consists of disease-based entries and disease names, synonyms, description of the disorder, symptoms, causes, epidemiological data available, treatment, clinical trials, diagnostics, procedures and a list of sources of further information. This information is provided by relevant experts and regularly brought up to date. A classification systempdf for these forms of dementia was also created.

5. The EU EUROMUSCLENET project - Muscle diseases - prototype of rare and disabling disorders: Creation of a European information network

Under the coordination of the Department of Neurology of the Charité University Hospital, Berlin (Germany), this project established a European information network on muscle diseases in all European languages via an Internet application; it also created of large network integrating smaller existing networks in different countries or between research groups.

Muscle diseases (or neuromuscular diseases, myopathies) encompass about 200 inherited or acquired disorders. The spectrum of diseases varies from fatal childhood muscular dystrophies to myopathies with very few symptoms and a normal life expectancy. The diagnosis needs highly specialised morphological, biochemical and molecular genetic studies that are available only in a few centres in Europe. An information network on neuromuscular disorders has an important EU dimension as it provides readily available, comprehensive information in the field.

6. The EU CAUSE Project - Charge Association and Usher Syndrome in Europe

Under the coordination of Sense International (UK), CAUSE is devoted to deaf blindness. This is a unique and isolating disability, which is more than a simple combination of visual and hearing impairments. Deaf blind people face enormous challenges that are often exacerbated by a lack of awareness, among the public in general, of the cause and functional effects of their condition. The CAUSE project focused on two specific causes of deaf blindness, Usher syndrome and CHARGE. The key aim of the project was to promote a wider awareness of these conditions through the exchange of information, experience and best practice between the CHARGE Network and the European Usher syndrome Network. All fact sheets may be downloaded from the CAUSE pages on the Deafblind International Website.

7. The European Information Network on Paediatric Rheumatic Diseases project

Under the coordination of IRCCS Istituto Giannina Gaslini, Genova (Italy), the aim of the project was to promote the development of a European information network on paediatric rheumatic diseases (PRD).

The network of 21 countries (plus 30 other countries outside the EU), provided information about this group of diseases: juvenile chronic arthritis, childhood lupus, erythematosus, juvenile dermatomyositis, scleroderma, vasculitis, rare forms of arthritis, and the many other rare diseases that may present with osteo-articular complaints. The network aimed to become a useful reference point for health professionals, researchers, families and volunteer association to help patients seeking information about PRD both inside and outside Europe. The project also helped develop the PRINTO and the PRINTO-Pediatric Rheumatology sites as a result of collaboration between the Paediatric Rheumatology International Trials Organisation and the Paediatric Rheumatology European Society.

8. The EU EDDNAL project - European directory of DNA laboratories

Under the coordination of the Centre de Génétique Humaine - PG (Institut de Pathologie et de Génétique), Loverval-Gerpinnes (Belgium), is a non-profit registry specifically intended for professional use. The information contained in EDDNAL is published as an online clinical resource. It provides standardised information on diagnostic services for heritable syndromes and disorders offered by laboratories in 14 EU countries as well as Switzerland, Norway and Poland.

9. The EU project Establishing European Neurofibromatosis Lay Group Network. Health promotion, improving health information and knowledge for neurofibromatosis (NF) in Europe

Under the coordination of the European Federation for Neurofibromatosis Associations (Belgium), the project aimed to:

  • establish a European NF-network by linking existing neurofibromatosis lay groups and improving collaboration between them;
  • investigate and evaluate the needs of those affected and their families;
  • integrate new lay groups from EU and other European countries and provide know-how and information;
  • develop a volunteer training program to help those affected achieve better socialisation and enable them to cope with the disease;
  • increase awareness about NF at European level focusing on professionals, the people concerned and European society (organising public awareness campaigns, designing a web page for disseminating up-to-date information about NF);
  • produce educational materials for the people concerned (patients, social workers, teachers, and medical professionals;
  • investigate the medical and social needs of the people affected by sharing experiences and prepare recommendations and guidelines for the evidence-based management of various aspects of NF. 

A NF website was developed, focusing in particular on the existence of support groups and professional help.

10. The EU Information Network for Immunodeficiencies project

Under the coordination of the Institute of Medical Technology, University of Tampere (Finland), the project aimed to build a comprehensive knowledge base for immunodeficiencies. The service, called ImmunoDeficiency Resource (IDR), provides information on primary immunodeficiencies, rare disorders that affect the human immune system, for different interest groups. Altogether more than 100 immunodeficiencies are known. The information is provided via a user-friendly Internet data service. All IDR data are validated by experts. All the Member States as well as several non-member countries are involved. The IDR contains information on classification and diagnostic criteria for immunodeficiencies. There is also an increasing amount of genome information: immunodeficiency-related genes and their locus on the genome, reference sequences on three levels (genome, RNA and protein), markers etc.

11. The EU TEAM project - Transfer of expertise on rare metabolic diseases in adults

Under the coordination of the Department of Internal Medicine (University Medical Centre) Utrecht (Netherlands), the project aimed to improve the quality and dissemination of expert knowledge on an emerging group of patients: adults with rare metabolic diseases. Previously, patients with these diseases often did not live to see adulthood in a reasonable condition, if at all.

Selected projects for 2008

European network for central hypoventilation syndromes: Optimizing health care to patients (EU-CHS)

Project Leader: Assistance Publique- Hôpitaux de Paris (France)

The general objective of the project is to optimize health care to patients with central hypoventilation syndromes (CHS) in Europe. The core action will be implementation of a European CHS register (EU-CHS register), as a critical mass of patients is required for high-quality epidemiological and clinical studies. Patients with CHS will be identified in 11 participating countries. Data will be collected through a secured web-based register. Key actions also aim at developing European standards and guidelines for diagnosis and treatment of CHS, and establishing the state of existing services for CHS in Europe. A multi-lingual website will facilitate information dissemination and communication between patients and health professionals.

Selected projects for 2007

1. European Haemophilia Safety Surveillance System

Project Leader: The University of Sheffield (UK)

The European Haemophilia Safety Surveillance (EUHASS) project aims to establish a pharmacovigilance program to monitor the safety of treatments for people with haemophilia. In addition it will develop and maintain a database of all the Haemophilia centres in Europe and establish a Rapid Alert System for immediate notification in case of unexpected or serious adverse events. The safety of haemophilia treatments is a public health priority following the contamination of plasma derived treatments with viruses including HIV and Hepatitis C in the past – which resulted in many people with haemophilia being infected with these and other viruses. In order to assess risk, data need to be collected from sufficient patient numbers. EUHASS will result in new sustainable monitoring and wide communication of health information and treatment safety data in haemophilia and will create a European network that will enable knowledge sharing related to occurrence, treatments and risk factors and evaluation of best practice with the ultimate aim of providing evidence that will result in improved patient safety.

See European Haemophilia Safety Surveillance System

2. European Project for Rare Diseases National Plans Development

Project Leader: Istituto Superiore di Sanità (Italy)

Despite the progress made over the last years in the field of rare diseases, a comprehensive and evidence based approach is still missing in many EU MS leading to an incomplete and often inadequate framework to address RD. In this context, the project aims at developing recommendations on how to define strategic plans for RD. Such recommendations will include best practices to address RD and information on the different steps to develop a strategic plan. This will support the harmonisation of public health strategies on RD throughout Europe.

See European Project for Rare Diseases National Plans Development (EUROPLAN) web site

3. The PRES Network for Autoinflammatoy Diseases in childhood (EuroFever)

Coordinated by the Istituto Giannina Gaslini (Italy)

The general aim of this project is to build a network on autoinflammatory diseases in childhood. The following instruments will be used: (1) a web-based survey on the prevalence of diagnosed or suspected autoinflammatory diseases among all European Paediatric Rheumatology Centres, (2) international registries for all those diseases lacking of a web-based method for data collection, - survey on the efficacy of treatment in these disorders and elaboration of outcome measures for possible future therapeutic trials, and (3) informative web pages on each disorders for patients and physicians.

Selected projects for 2006

1. Rare Diseases portal

Coordinated by the Institut National de la Santé et de la Recherche Médicale (France).

This project was an evolution of the Orphanet website towards a new rare diseases portal.

The new site is designed to help improve the diagnosis, care and treatment of patients with such diseases, by providing the community at large with comprehensive, user friendly information on rare diseases in 5 languages. Features include:

  • Comprehensive encyclopaedia of rare diseases;
  • Directory of professional services in 35 countries;
  • Directory of European centres of reference;
  • Database of orphan drugs providing information on their stage of development and availability in EU countries; and
  • Range of other services for specific categories of stakeholders.

The goals of the site are to:

  • Make this information more accessible;
  • Contribute to a deeper knowledge of the epidemiology of rare diseases;
  • Improve the diagnosis of rare diseases by providing an online database of possible diagnoses;
  • Contribute to the classification of these diseases by coding them with existing coding systems;
  • By such classification, provide all Europeans with validated information on specialised services for such diseases; and
  • Map the European centres of reference. 

See Rare Diseases Portal

2. Surveillance of rare cancers in Europe (RARECARE)

Coordinated by the Istituto Nazionale per lo Studio e la Cura dei Tumori (Italy).

This project intended to help define indicators and collect and analyse relevant data on rare cancers, on a sustainable, long-term basis. It generated both an operational definition of “rare cancers” and a list of cancers meeting that definition, with multidisciplinary and international agreement.

The project assessed and adapted the validity of statistical methodology used for common cancers in estimating the burden of rare cancers. RARECARE provided cancer burden indicators with data from population-based cancer registries and produced comparable information on rare cancers across Europe, taking into account the ECHI strategy and EUROSTAT standards for monitoring and surveillance. RARECARE assessed the quality and comparability of data on rare cancers across European countries. For selected rare cancers considered a high priority, an effort was made to improve data quality by reviewing the information currently collected by cancer registries and disseminating the results, and linking it to other information resources via a specially designed website.

See RARECARE web site

3. European Register on Cushing’s Syndrome (ERCUSYN)

Coordinated by the Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau (Spain).

The objectives of this project were to improve the care of patients with Cushing's syndrome in Europe and thereby improve outcomes. As with many rare diseases, the diagnosis is often delayed and patients are managed in centres with limited experience and expertise. In particular, with Cushing's syndrome there has been a failure to appreciate the long term impact of sustained high cortisol levels on mental health and quality of life.

This project identified the reasons for delayed diagnosis and endeavoured to (i) establish the optimal, cost effective diagnostic investigations and the best means of delivering the various modes of therapy (i.e. surgery, radiotherapy and medical treatment), and (ii) define the desired end points of treatment, in terms of both biochemistry and quality of life. A pan European registry is the only means of gathering adequate data and will also provide insights into regional differences in management, thereby identifying best practice, which may be improved for the benefit of patients.

Based on previous work, the partners developed methods for sustainably collecting data, assessing patients’ quality of life and standardising biochemical analyses. This pilot experience paved the way for sustaining a routine European Register for the diagnosis and treatment of Cushing’s syndrome at European level, including clinical, diagnostic, quality of life and prognostic data collected by the network members.

See The European Register of Cushing Syndrome

Selected projects for 2005

1. European Myasthenia Gravis Network

The EuroMyasthenia project aimed to set-up a Europe-wide Myasthenia Gravis network to improve information and knowledge about the disease, promote better classification, optimise therapeutic strategies and support action to reduce inequalities in care.

EuroMyasthenia focused particularly on standardising biological, clinical and histological criteria in EU countries, identifying new biomarkers to improve diagnosis, classification and treatment of myasthenia gravis, determining the influence of psychological and socio-economical determinants in the onset and aggravation of the disease, developing a European database to serve as a basis for epidemiological studies, promoting the establishment of a specific European Card for myasthenia gravis patients and disseminating data via a website connected to the EU health portal. 

See Euromyasthenia web site

2. European Autism Information System

The project's objectives were to develop mechanisms for obtaining systematic, reliable and consistent data for Autism Spectrum Disorder (ASD) in Europe and to improve its early diagnosis. It addressed these issues by conducting an initial analysis of the current surveillance of ASD and analysing the use of different case definitions in Europe, establishing a network of professionals and stakeholders in the field of ASD, and making recommendations for a common European information system on ASD that was validated in a pilot study.

See European Autism Information System web site