MAIN EU PROJECTS IN THE FIELD of iNMDs:

Scientific interest for iNMDs throughout the entire European community  has rapidly grown in the last years as witnessed by the number of  projects funded.

DG SANCO PROJECTS ON iNMDs

Following the Calls for Proposals under the 2012 work plan of the Second EU Health Programme (2008-2013),  8 are the projects under the action “Prevention of major and rare diseases” which have been selected for funding by the European Commission – DG Health and Consumers.  Among these,  there are 5 projects on rare diseases and in particular, 3 out of these selected 5, are projects on iNMDs, stressing the importance of this topic and highlighting the necessity to improve knowledge, increase awareness, spread, information, monitoring diseases progression and response to the available therapeutic approaches. They are aimed to set up networks and develop Rare Disease Patient Registries, as key instruments for increasing knowledge, supporting clinical and epidemiological research, improving overall quality of care, quality of life and survival of patients in the field of rare diseases.

European network and registry for homocystinurias and methylation defects (E-HOD)
European registry and network for Intoxication type Metabolic Diseases (E-IMD)
An EU rare diseases registry for Niemann-Pick Disease type A, B and C (NPDR)

 

OTHER ONGOING EU-FUNDED RESEARCH PROJECTS ON iNMDs

Artificial Cells for Enzyme Replacement Therapy for Phenylketonuria (AC FOR PKU TREATMENT)
Augmenting PBGD expression in the liver as a Novel Gene therapy for Acute Intermittent Porphyria (AIPGENE)
A Treatment-Oriented Research Project of NCL Disorders as a Major Cause of Dementia in Childhood (DEM-CHILD)
Therapies for inborn errors of metabolism (IEMTX)
Investigation of metabolic processes underlying brain myelination defects using magnetic resonance spectroscopy of oligodendrocyte extracts (JIMPYSPEC)
Therapeutic challenge in Leukodystrophies: Translational and ethical research towards clinical trials (LEUKOTREAT)
Synthesis of mono-dithiolene molybdenum complexes and their evaluation as potential drugs for the treatment of human isolated sulfite oxidase deficiency (MOCOMODELS)
Developing therapies for Nitric Oxide (NO) related neurodegeneration (NO-BRAINER)
Quantitative Large Scale Proteomics of Lysosomal Storage Disease (STORAGE PROTEOMICS)
Treat Iron-Related Childhood-Onset Neurodegeneration (TIRCON)
Early treated patients with PKU: Exploring the association between measures of metabolic control, cognitive performance and neurological health (TREPAPHEN)
Please contact us to amend or append this list or send an e-mail to: info@innermed.eu

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