Neuromuscular Diseases / Projects

3rd Health Programme (2014-2020)
European Reference Network for Rare Neuromuscular Diseases [ERN-NMD]
ERN-NMD is a European Reference Network for the thematic grouping of rare neuromuscular diseases (NMDs), a broad group of related disorders that represent a major cause of mortality and lifelong disab...
ERN-NMD is a European Reference Network for the thematic grouping of rare neuromuscular diseases (NMDs), a broad group of related disorders that represent a major cause of mortality and lifelong disability in children and adults. NMDs are caused by acquired or genetic defects of motorneurons, peripheral nerves, neuromuscular junctions or skeletal muscle, resulting in muscle weakness and wasting, swallowing and breathing difficulties, and cardiac failure. NMDs are difficult to recognize, and patients experience long delays in diagnosis. No curative treatments yet exist for any NMD and their rarity and diversity pose specific challenges for healthcare and research, and for the development and marketing of therapies.

NMDs collectively affect an estimated 500,000 EU citizens and result in significant costs for families and the healthcare system. ERN-NMD unites 61 of Europe’s leading NMD clinical and research centres in 14 Member States and includes highly active patient organizations. More than 100,000 NMD patients are seen annually by the ERN. The network addresses harmonizing and implementing standards for clinical and diagnostic best practice, improving equity of care provision across Member States, decreasing time to diagnosis, increasing cost efficiency through better care pathways, access to specialist training and education, application of eHealth services, development and application of care guidelines, facilitating translational and clinical research, harmonising data and samples for research reuse, and sharing of high-quality data.

ERN-NMD partners will form the backbone for national implementation of best practice NMD care and will form trusted partnerships with payers, national health systems and RD national plans. Ultimately, ERN-NMD will improve health outcomes in NMD patients across Europe, provide new opportunities for translational research, and reduce the burden of these chronic disabling conditions for families and healthcare systems in Europe.

Start date: 01/03/2017 - End date: 28/02/2018

Call: EUROPEAN REFERENCE NETWORKS SPECIFIC GRANT AGREEMENTS COVERING YEAR 2017
Topic: Neuromuscular Diseases
3rd Health Programme (2014-2020)
EURO-NMD, an ERN for Rare Neuromuscular Diseases [EURO-NMD SGA]
EURO-NMD is a clinically oriented approach to the thematic grouping of neuromuscular disorders that builds on many years of networking experience in the NMD field. NMDs include a broad group of diseas...
EURO-NMD is a clinically oriented approach to the thematic grouping of neuromuscular disorders that builds on many years of networking experience in the NMD field. NMDs include a broad group of diseases with overall prevalence of 1/3500-1/2500 that represent a major cause of mortality and morbidity in children and adults. Their rarity and diversity pose specific challenges for healthcare provision and research. While individually rare, NMDs collectively affect an estimated 500,000 patients in Europe and result in life-long disabilities with significant costs for families and the healthcare system. Regional and national differences in care and incomplete implementation of standards lead to international disparities and divergent outcomes for NMD patients. NMD patients often lack timely and accurate diagnosis, and this impacts on survival and quality of life. Even patients with a condition diagnosable with existing gene tests typically wait 7 years for diagnosis – EURO-NMD aims to decrease time to diagnosis through implementation of diagnostic guidelines. A further 30% may remain without a confirmed genetic diagnosis after extensive testing. Through next-generation sequencing EURO-NMD aims to diagnose a further 15% of patients within the 5-year period. The ERN is a partner in the SOLVE-RD project that aims exactly at solving the unsolved cases and is also a partner in the EJP-RD. NMDs require a multidisciplinary team experienced in the specific clinical needs of the conditions comprising the ERN sub-groups: muscle, nerve, motor neuron, mitochondrial and neuromuscular junction diseases. During the last 2 years the working groups have collected and endorsed guidelines and standard operating procedures in collaboration with the learned societies. For the future the ERN aims to increase the teaching initiatives either through teaching courses, e-learning activities or supporting the networking of young professionals.
Start date: 01/03/2019 - End date: 28/02/2022

Call: Multiannual Grant Agreements for European Reference Networks
Topic: Neuromuscular Diseases
3rd Health Programme (2014-2020)
Patient centered and interoperable registry hub for Rare Neuromuscular Diseases [EURO-NMD Registry]
EURO-NMD, ERN for Rare Neuromuscular Diseases, spans 14 European countries, with 61 reference centres that oversee more than 100,000 patients. Core objectives are the implementation of clinical practi...
EURO-NMD, ERN for Rare Neuromuscular Diseases, spans 14 European countries, with 61 reference centres that oversee more than 100,000 patients. Core objectives are the implementation of clinical practice guidelines and the definition and monitoring of core indicators of guideline conforming management, treatment quality and patient health outcomes. Patient registries are key instruments for the ERN to be able to deliver its objectives. A recognised challenge for rare diseases is the heterogeneity of legacy data sets and the multiplicity of existing registries. EURO-NMD health care providers and patient organizations are currently active in more than 120, mostly disease specific and patient run registries. While the existing registries are collecting important information, none of them is used by all EURO-NMD centres and there is no unified NMD or NMD Disease Specific Registry in EU. The general objective of this proposal is to build a registry hub for all neuromuscular diseases, including undiagnosed patients, and connect with the existing ones. The EURO-NMD Registry Hub will use internationally agreed, state of the art concepts such as being built with a system that will collect standardized common data elements, defined by the Joint Research Center (JRC). It will be registered in the JRC’s meta-registry platform ERDRI, will allow for the generation of a Privacy Preservation Record Link (PPLR) through the EUPID system, it will use internationally accepted ontologies (HPO) and ORPHA codes for codification of the diseases. Development of a registry hub that will allow linking and extraction of data from different sources. Thus, the data collected through the registry hub will be Findable, Accessible, Interoperable, and Reusable (FAIR). The registry hub will offer the unique opportunity to the fragmented NMD communities and their HCPs, Centers, Patients and Patient Organizations to be able to communicate between them and exchange knowledge, experience and news.
Start date: 01/05/2020 - End date: 30/04/2023

Call: Call for Proposals for Projects 2019
Topic: Neuromuscular Diseases