ERN-RND is a network of 32 Healthcare Providers from 13 EU member states. ERN-RDN builds on existing expert centres and mature networks dedicated to rare neurological diseases (RND) as well as established rare disease infrastructures such as Orphanet, EURORDIS and RD-Connect. Through coordination and knowledge transfer, ERN-RND shall establish a patient-centred network to address the needs of patients with RND of all age groups, with or without a definite diagnosis, by implementing an infrastructure for diagnosis, evidence-based management, treatment and collection of patient data. The network will develop, disseminate, implement and supervise best practice guidelines and care pathways to optimize patient care and facilitate training and capacity building in the field. A special effort will be aimed to member states with less developed infrastructure for caring for RND patients, where no current partners are located, or with only affiliated or collaborative partners. ERN-RND will inform planning of European and national health care in RND, facilitating translation of research activities into clinical practice and the development of future therapies. Keeping in line with ERN-RND’s strategic objectives the six most important operational targets for year 1 will be:
• Kick ERN-RND off through a highly engaging kick-off meeting involving all stakeholders,
• Establish operability of all governance bodies as well as operational bodies such as working groups and disease expert groups,
• Establish and disseminate access points for all ERN-RND HCPs and pilot E-Health virtual consultation platform as ERN-RND access point for external clinicians and patients
• Consent and disseminate diagnostic flowcharts for all RND covered by ERN-RND
• Identify most important care needs for RND and design high impact strategies to address these needs
• Build ERN-RND web-site as THE RND information hub
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The project will develop common training curricula and capacity-building programmes in HIV/AIDS. The training will cover a broad range of relevant topics in HIV/AIDS treatment and management, combining on-site training with online distance learning methods. After piloting, the curricula will be incorporated in the networks and disseminated to a broader stakeholder audience.
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The general objective of this project is to set up a European network of treatment centres of rare bleeding disorders (RBDs), exploiting the potential of the existing database on RBDs called the Rare Bleeding Disorders Database (RBDD) by extending its proven organisational capacity and experience in collecting pertinent data.
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NeuroMetabolic Diseases (NMDs) are genetic rare diseases constituted by metabolic disorders that impact on the brain from birth.
Drugs replacing the missing enzyme or detoxifying cell metabolism can, if promptly used in newborns or young children, slow the neurodegeneration and increase life expectancies. In addition, pre-symptomatic, prenatal diagnosis and newborn screening are already available for about 70 diseases and will be soon routine tools of prevention in newborns.
But data on NMDs are few, often bad disseminated, and experts are poorly connected. Then a challange is to increase the general and medical awareness on NMDs by disseminating proper information.
Inherited NeuroMetabolic Disease-Information-network (InNerMeD-I-network) is aimed to develop a network of information targeted on diagnosis and treatment of inherited NMDs based on the exchange of information among experts, collect standardised data and disseminate validated data among patients and all the interested parties.

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The general objective of this project is to support accurate and timely diagnosis, treatment, and research for the overlapping but distinct rare genetic diseases, Niemann-Pick disease (NPD) type A, B & C in Europe. We will achieve this by implementing an EU registry for NPD, containing clinical, genetic diagnostic and outcome data. The
purpose of the registry is: a) to establish the natural history of the 3 diseases (their characteristics, management and outcomes); b) to assess clinical effectiveness of management and quality of care; c) to provide an inventory of patients for recruitment to interventional studies; d) to establish genotype-phenotype correlations. We will achieve high usage of the registry by linking it to rapid biochemical testing; and to up-to-date, accurate information, FAQS, and education material.
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