Rare diseases and disorders / Projects

Second Programme of Community action in the Field of Health 2008-2013
EURORDIS_FY2013 [EURORDIS_FY2013]
EURORDIS is a patient-driven alliance of Patient Organisations(POs) and individuals active in the field of rare diseases (RD). It represents the voice of approximately 30 million citizens in the EU.

...
EURORDIS is a patient-driven alliance of Patient Organisations(POs) and individuals active in the field of rare diseases (RD). It represents the voice of approximately 30 million citizens in the EU.

EURORDIS mission is to build a strong pan-European community of POs and People Living With RD (PLWRD), to be their voice at the European level and to fight against the impact of RD on their lives.

To this end, EURORDIS undertakes activities on behalf of its members:

- Empowering RD patient groups
- Advocating RD as a public health priority
- Raising public awareness on RD
- Improving access to information, treatment, care and support for PLWRD
- Improving quality of life
- Networking activities
- Capacity building
- Encouraging good practices in relation to these issues
- Promoting scientific and clinical research on RD
- Promoting the development of treatments and drugs for people living with RD

EURORDIS plays a pivotal role in the implementation of the EU strategy on RD: participation to the EU Committee of Experts on RD (EUCERD) and related road map,elaboration of National Plans or Strategies on RD, European Commission Communication and Council Recommendations in the field of rare diseases, Cross Border Health Care (CBHC) and patient`s mobility, as well as in the implementation of EU Regulations on Orphan Drugs, Paediatrics and Advanced Therapies Medicinal Products (ATMPs) through participation in the EMA Scientific Committees.
Start date: 01/01/2013 - End date: 01/01/2014

Call: Generate And Disseminate Health Information And Knowledge (Hi-2012)
Topic: Rare diseases and disorders
Second Programme of Community action in the Field of Health 2008-2013
ESPNreg_FY2013 [ESPNreg_FY2013]
Every year about 9 children per million children develop end-stage kidney disease (ESKD) and require dialysis or a kidney transplant. ESKD is a rare condition, and its treatment is complex and expensi...
Every year about 9 children per million children develop end-stage kidney disease (ESKD) and require dialysis or a kidney transplant. ESKD is a rare condition, and its treatment is complex and expensive. Low patient numbers per country complicate clinical epidemiological research and hamper the development of evidence-based guidelines. This results in large variation of treatment practices and outcomes across Europe. Therefore, the European Society for Paediatric Nephrology (ESPN) and the European Renal Association and European Dialysis and Transplantation Association (ERA-EDTA) have initiated the ESPN/ERA-EDTA Registry. This specialized network collects prospective data on all European children on dialysis or with a kidney transplant.

The Academic Medical Center (AMC) in Amsterdam, the Netherlands, one of the world`s leading medical centres, hosts the ESPN/ERA-EDTA registry and takes care of its financial management.

The ESPN/ERA-EDTA Registry MISSION is to provide high-quality information on all European children on dialysis or with a kidney transplant.
To achieve this mission, we pursue the following activities:
(1) Collect standardized data on children on dialysis or with a kidney transplant from 35 European countries on a yearly basis;
(2) Regularly publish demographic information on paediatric ESKD;
(3) Perform research projects focusing on
- Transnational differences in paediatric ESKD treatment, aiming at reducing health inequalities
- Rare diseases leading to ESKD in children
- Defining optimal strategies to harmonize and reduce practice variation in ESKD management
The demographic information and research results are disseminated online, emailed to all members and contributors, published in high-quality medical journals and presented at national and international congresses.
Covering a population of 630 million in 35 European countries, the ESPN/ERA-EDTA registry is the world`s largest population-based registry for children with ESKD. Our VISION is to provide access to high quality, evidence-based clinical care to all European children.
Start date: 01/01/2013 - End date: 01/01/2014

Call: Promote Health (Hp-2012)
Topic: Rare diseases and disorders
Second Programme of Community action in the Field of Health 2008-2013
NEW e-HEALTH SERVICES FOR THE EUROPEAN REFERENCE NETWORK ON RARE ANAEMIAS [e-ENERCA]
The general objective of e-ENERCA is to provide professionals and patients with e-Health tools to assure the same level of access to rare anaemias (RA) services across Europe. e-Health services will b...
The general objective of e-ENERCA is to provide professionals and patients with e-Health tools to assure the same level of access to rare anaemias (RA) services across Europe. e-Health services will be developed through the implementation of three e-platforms endorsed on the ENERCA website. The specific objectives are: 1) to enhance the creation and use of European inventories to gather updated and reliable data on centres of expertise (CEs) and epidemiological figures 2)To facilitate the continuing medical education and best practices 3) To create a telemedicine platform for the provision of health care and medical advice avoiding the need of physical travelling 4) To promote the recognition of CEs on RA by national health authorities and ENERCA as the European Reference Network for RA 5) To develop e-Health tools in the field of RA and promote their use among the scientific community and patients` associations and 6) to assure the project sustainability in the future.
Start date: 01/01/2013 - End date: 01/01/2016

Call: Promote Health (Hp-2012)
Topic: Rare diseases and disorders
Second Programme of Community action in the Field of Health 2008-2013
European Conference on Rare Diseases & Orphan Products 2014 Berlin [ECRD 2014]
The objectives of the European Conference on Rare Diseases & Orphan Products are:

- To disseminate the most up-to-date health information related to the rare disease environment to all relevant stake...
The objectives of the European Conference on Rare Diseases & Orphan Products are:

- To disseminate the most up-to-date health information related to the rare disease environment to all relevant stakeholders (patients and patients’ representatives, academics, health care professionals, industry and policy makers);

- To demonstrate the importance of EU actions in the field of rare diseases and review progress made to date;

- To elaborate strategies and mechanisms for developing further exchange of information between stakeholders: people living with rare diseases, volunteers, health professionals, policy makers, researchers and industry at national and EU levels;

- To exchange knowledge and best practices on all relevant health issues related to the rare disease environment;

- To sustain efforts for rare disease policies at both the European and the national level;

- To stimulate dialogue on policies for rare diseases in some of the Member States having recently joined the EU;

- To present specific, achievable objectives at both European and national levels in order to reduce health inequalities for rare disease patients.


Start date: 01/01/2014 - End date: 01/09/2014

Call: Generate And Disseminate Health Information And Knowledge (Hi-2013)
Topic: Rare diseases and disorders
Second Programme of Community action in the Field of Health 2008-2013
INSERM_FY2014 [INSERM_FY2014]
Orphanet is the world-reference portal dedicated to information on rare diseases (RD) and orphan drugs (OD) It was created in 1997 at the French National Institute of Health and Medical Research in Pa...
Orphanet is the world-reference portal dedicated to information on rare diseases (RD) and orphan drugs (OD) It was created in 1997 at the French National Institute of Health and Medical Research in Paris. It is coordinated by INSERM US 14 and the network involves now 38 countries.
The overriding aim of ORPHANET is to provide the community at large with a comprehensive set of information on RD and OD and attached services in Member States, to contribute to the improvement of the diagnosis, care and treatment of patients with RD.
Orphanet includes an inventory of 6000 RD, an encyclopaedia in 6 languages, a directory of health professionals (17000), expert clinics (5600), medical laboratories (1600), clinical trials (1700), research projects (4500), networks, registries (1300), patient organisations (2400), and information on OD and on drugs intended for rare diseases. All the MS have now an Orphanet national website published in their national language(s). The encyclopaedia of RD is available in English, French, German, Italian, Spanish, and Portuguese,Dutch, and for some diseases in Finnish, Greek and Polish. The portal is accessed daily by over 20,000 users from over 200 countries. Half of them are regular users. More than 10,500,000 documents are downloaded every year.
Orphanet has been developed through several rounds of funding, to include EU co-funding alongside other resources. In its current development phase, the network aims to develop tools for the partners as to empower them to collect data at national level and publish them, and in general tools to upgrade the quality of the database and ease its update and validation. In addition, the current 2014 work plan requires further work on the inventory and classification of RD, which has proven difficult due to delays in the overall review of the International Classification of Diseases.
Currently, Orphanet is co-funded through the ORPHANET Europe JA (alongside other funding sources –see section 1.5.5.). The activities which are included in the ORPHANET 2014 Operating Grant do not in any way overlap with those that are implemented through the Joint Action, which ends on 30/03/2014.



Start date: 01/01/2014 - End date: 01/01/2015

Call: Generate And Disseminate Health Information And Knowledge (Hi-2013)
Topic: Rare diseases and disorders