History

ENERCA started in October 2002 but its concept goes back much further. During its first phase the website was set up with two main objectives:

1. To provide patients and their relatives, family and care providers with clear and concise information, in their own language, about the different rare anaemias known.

2.   To facilitate physicians with a rapid protocol for the identification and diagnosis of rare anaemias as well as appropriate treatment by specialised centres/clinicians when referral or advice is needed.

Besides this, the basis for the personal Medical Alert Card (MAC) for patients was established. This MAC is to be carried by the patients at all times because it will help doctors by providing information of the patient’s condition, his current medication and useful telephone numbers in the case of an emergency.  In short, this also means a help for patients.

How did ENERCA begin?

According to the European Commission (EC) a disease is considered to be rare when its frequency in the population is less than 5 cases in 10,000 individuals. However, it is estimated that, at any one time, the total sum of rare diseases affects about 6% of the European population. This percentage is currently increasing in many European geographical areas due to immigration. Therefore while these diseases are individually uncommon, when considered together, they represent a considerable cause of concern.

Until now, a large-scale network of experts and specialists working in the specific topic of rare anaemias does not exist. That creates a serious lack of information and knowledge-related problems for both the patients, their relatives and also for general practitioners and doctors. The consequences of these problems include:

1. Pointless referrals
2. Inappropriate or uncalled-for investigations
3. Delayed or inappropriate treatment
4. Avoidable ill health and disability
5. Needless distress for patients and their families
6. Wasted health care and research opportunities

This is why we started the ENERCA project.

The ENERCA Project

The development of ENERCA has two main phases: ENERCA-I between October 2002 and April 2004, and ENERCA-II since September 2005.  A third phase has been proposed to DG-SANCO that would build the foundations for a permanent presence.

ENERCA-I provided necessary background for developing sustainable coordination in the area of health information, collection of epidemiological data, comparability issues, exchange of data and information within and between member states. ENERCA has also facilitated a rapid reaction to diagnosis and treatment of rare anaemias.

ENERCA-II continues along these lines but, in addition to congenital anaemias, rare anaemias of acquired origin are also included. The activities beeing developed under ENERCA-II include the following objectives:

1. Health information: Necessary for both patients and doctors. ENERCA will contribute to providing patients and their families clear and concise information about their disease and doctors useful information, with the aim to facilitate their professional healthcare. A periodic newsletter will be published with the latest information on different diseases.  An on-line forum or discussion list will enable talking about topics on rare anaemias by the professional community.
   
   Brief clinical information on patient's disease is very useful in emergency situations. Under these circumstances, the personal Medical Alert Card (MAC) containing this information will contribute to immediate, appropriate care by any physician who has to manage the problem.
   
2. Epidemiological surveillance: Epidemiological data on Haemoglobinopathies, Thalassaemias and congenital dyserythropoietic anaemias (CDA) will be processed in order to better monitor the occurrence of rare anaemias in European Countries and local geographical areas. The result of this will be an European registry for those diseases.  In countries without existing data or systematic neonatal screenings, ENERCA will be of help in their own national implementation of these studies.
   
3. Education and training: For a better understanding of the physiopathology and molecular mechanisms of rare anaemias, the exchange of information between the different research groups will be strengthened. Several European training courses on rare anaemias will be prepared.
   
4. Standardization and Quality Assessment: Patients are entitled to a short detection time and a uniform approach for prevention, diagnosis and treatment. To guarantee the achievement of this objective, guidelines for diagnosis and clinical management of rare anaemias will be set-up.
   

Partners

ENERCA II partnership is based on the co-operation of 12 specialists in the field of haematology, paediatrics and molecular biology from different countries of the European Union:

The activity of ENERCA partners has been distributed into different work packages (WPs). Current information and the design of our website is only made possible with their continuous input.

Work Packages (WPs)

WP 1 – Project Coordination 
Work package 1 ensures the coordination of all partners who contribute to the ENERCA project. Further priorities are maintenance and updating the ENERCA web page, organizing symposiums, e-meetings and chat forums. These activities will facilitate a sustainable exchange of information in the area of rare anaemias between specialists.

WP 2 – Dissemination of Results
The main objective of work package 2 is promoting the exchange of information using European networks related with rare diseases.

WP 3 – Neonatal screening for haemoglobinopathies
A strategy for haemoglobin disorders control in Europe will be promoted by carrying out the collection of currently available, epidemiological data on haemoglobinopathies and thalassaemias in Europe. For countries without epidemiological information a standardized neonatal screening program will be proposed.

WP 4 – ENERCA Marketing
European training courses on rare anaemias will be developed by promoting cooperation with educational institutions in France as a model for other European countries. The activities of work package 4 will also include permanent support to WP1 in updating the ENERCA website.

WP5 – Preparation of Guidelines
Standardization and harmonization in the area of prevention, diagnosis and treatment of rare anaemias are the main objectives of work package 5. This will be achieved by preparing consensus guidelines and recommendations for red cell membrane defects, congenital dyserythropoietic anaemias (CDA) and splenectomy. An external quality assessment scheme (EQAS) for laboratory diagnosis of rare anaemias will accompany these activities.

WP6 – Quality Assurance
The aim of this work package is to increase quality assurance and improvement of accreditation laboratory systems across Europe. This will be achieved by harmonizing existing diagnostic procedures and promoting the external quality assessment of specific laboratory methods used in the diagnosis of rare anaemias.

WP7 – Registry of Patients with Rare Anaemias
Registries will be set up for congenital dyserytropoietic anaemia (CDA), red cell enzymopathies and membrane defects, which will help physicians and scientists to better understand the genetic mechanisms of these disorders. Patients and their relatives will also profit by improved information.

WP8 – Database for Haemoglobinopathies
A database will be established to get epidemiological information on the most relevant haemoglobinopathies in Europe like ß-thalassaemia, α-thalassaemia, sickle-cell anaemia and others.  The aim of work package 8 is to achieve improved quality in patient care for these diseases.

WP9 – Cooperation with existing Networks for Rare Diseases
Work package 9 aims at cross-border cooperation in health services on an European level by promoting close contact between member states organisations with information on diagnosis and treatment of rare anaemias as well as in developing harmonized continuous educational courses focused on clinical and genetical aspects.