E-Rare, European Union

2016

  • Dimethylfumarate for the treatment of bullous pemphigoid (DPem)
  • Hydroxychloroquine (HCQ) in pediatric ILD (HCQ4Surfdefect)
  • Inhibition of Rho Kinase (ROCK) with Fasudil as disease-modifying treatment for ALS (ROCK-ALS)
  • Nicotinamide for the treatment of Friedreich ataxia (NICOFA)
  • Propranolol for preemptive treatment of threshold retinopathy of prematurity (ROPROP)
  • Repurposed Enoxacin for the treatment of patients with Amyotrophic Lateral Sclerosis (REALS)
  • Repurposing doxycycline in the treatment of AL amyloidosis (ReDox)
  • Tamoxifen in Duchenne muscular dystrophy – a randomised placebo controlled phase 2 trial (TAMDMD)

2015

  • A comprehensive clinical and experimental approach to personalized molecular medicine in patients with defined and undefined autoinflammatory disorders (INSAID)
  • A European research network directed towards improving diagnosis and treatment of inborn glycosylation disorders (EURO-CDG-2)
  • European network on Noonan syndrome and related disorders (NSEuroNet)
  • Harmonising phenomics information for a better interoperability in the RD field (Hipbi-RD)
  • Improving care for cohesinopathies: from heart phenotypes to novel therapies (CoHEART)
  • Improving diagnosis and treatment of catecholaminergic polymorphic ventricular tachycardia: integrating clinical and basic science (Improve CPVT)
  • Induced pluripotent stem cells for identification of novel drug combinations targeting cystic fibrosis lung and liver disease (INSTINCT)
  • Mitochondrial Disorders: from a genome-wide Registry to medical genomics, toward molecular mechanisms and new therapies (GENOMIT)
  • Modulation of Neuregulin signaling as an effective strategy to treat hereditary neuropathies (Charcot-Marie-Tooth disease) (CMT-NRG)
  • Netherton Syndrome; From mechanism to therapies (KLKIN)
  • Non-SCID combined immunodeficiencies: a diagnostic and therapeutic challenge (EuroCID)
  • Novel Gene Therapy for Thalassemia: Pre-clinical Development and Assessment in Animal and Stem Cell Models (GETHERTHALPLUS)
  • Patient-Derived Glial Precursor Cell Therapy for Vanishing White Matter Disease (iNSC-WMD)
  • Preparing for therapies in autosomal recessive ataxias (PREPARE)
  • Small Antibody Fragment as Alternative Tools in Haemophilia Care (SMART-HaemoCare)
  • The European Diamond-Blackfan Anemia Consortium (EuroDBA)
  • Tracing the untackled facets of Peeling Skin Disease-Targeting epidermal proteolysis for treatment (Propekal5)
  • Translating Peroxisome Biogenesis Disorders: Identifying Pharmacological Therapies and Clinical Trial Endpoints (PERescue)
  • Understanding primary hyperoxaluria type 1 towards the development of innovative therapeutic strategies (ERAdicatPH)

2014

  • Targeting Alpha-Synuclein for Treating Multiple System Atrophy (ARTEMIS)
  • Novel Therapies for Cystinosis (NTC study)
  • Sulfonylurea drugs to treat Cantú syndrome (CantuTreat)
  • Immunotherapy of familial prion diseases (PrionImmunity)
  • Therapeutic approaches for treatment of hereditary lymphedema (TheraLymph)
  • Cerebral Cavernous Malformations Pharmacological Supression Screen (CCMCURE)
  • Common Pathogenic Pathways and Therapeutics for SMA and ALS motoneuron diseases (FaSMALS)
  • New treatments for auto-inflammatory diseases (Treat-AID)
  • Preclinical approaches towards therapeutic intervention for fragile X premutation carriers (Drug_FXSPreMut)
  • Repurposing biomolecules for the treatment of epidermolysis bullosa (EBThera)
  • Cysteamine for the treatment of cystic fibrosis: a translational research project (RescueCFTRpreclinic)
  • Pharmacological chaperones for genetic prion diseases (CHAPRION)
  • Novel treatment strategies for autosomal dominant chronic mucocutaneous candidiasis (EURO-CMC)
  • Fast Skeletal Troponin Activation for Restoring Muscle Strength in Mouse Models of Nemaline Myopathy: a Molecular, Cellular, Metabolic and Functional Assessment (TREAT-NEMMYOP)

2013

  • Allan-Herndon-Dudley Syndrome: Mechanisms of disease and therapeutic approaches in model organism (THYRONERVE)
  • An international effort to understand FSHD muscular dystrophy epigenetics (inter-FSHD-epigen)
  • Autoantibodies to cell adhesion molecules in inflammatory neuropathies (ACAMIN)
  • CLC chloride channels and Megalencephalic leukoencephalopathy: molecular mechanisms and therapeutics (CLC & MLC)
  • Dysregulation of RNA in the pathogenesis of ALS (RNA-ALS)
  • EUropean PLAtelet NEtwork for studying physiopathology of two inherited thrombocytopenias, THC2 and MYH9-RD, characterized by genetic alterations of RUNX1-target genes (EUPLANE)
  • Genomics of cAMP signaling alterations in adrenal Cushing (GOSAMPAC)
  • Idiopathic Infantile Hypercalcemia: European-Canadian Consortium (IIH-ECC)
  • Lipid metabolism in the pathogenesis of hereditary spastic paraplegia: genes, biomarkers, and models for therapy (NEUROLIPID)
  • Primary monogenic microcephalies : from genetics to pathophysiology and the clinic (EUROMICRO)
  • Retinitis Pigmentosa diagnosis and therapy: retinal remodeling and optogenetic reactivation of degenerated retina (OPTOREMODE)
  • Stimulating Intrinsic Repair for DMD (SIRD)

2012

  • Advancing the European Multidisciplinary Initiative on Neuroacanthocytosis – EMINA-2: Dissecting the molecular pathophysiology of Chorea-Acanthocytosis (EMINA-2*)
  • Coenzyme Q10 Deficiency Syndrome: Understanding the genotype-phenotype association and metabolic dysfunction through generation of induced pluripotent stem cells (iPSCs) from patient-specific uncorrected and genetically-corrected cells (COQ-IPSC)
  • European Diamond-Blackfan Anemia Consortium (EuroDBA)
  • European young investigators network for Usher syndrome (Eur-USH**)
  • Experimental approaches towards therapeutic intervention for Fragile X-associated Tremor Ataxia Syndrome (Cure-FXTAS)
  • In vitro and in vivo models of congenital rare skin diseases for molecular characterization and drug screening (SkinDev)
  • Phenotype Research for ALS modifyer discovery (PYRAMID)
  • Splicing therapies for Dystrophic Epidermolysis Bullosa (SpliceEB)
  • Targeting the unknowns in causes and phenotypes of the Cornelia de Lange Syndrome (TARGET-CdLS)
  • The Molecular Basis for Neurodegeneration and Muscle Atrophy in ALS (ALS-degeneration)
  • Towards the Understanding of Pathological Protein Processing and Toxicity in Machado-Joseph Disease (PPPT-MJD)
  • Understanding the causes of heart defects in myotonic dystrophies (HEART DM)

2011

  • A European research network for a systematic approach to CDG and related diseases (EURO-CDG)
  • Acute Exacerbation of Idiopathic Pulmonary Fibrosis: Mechanism and Biomarkers (IPF-AE)
  • An innovating platform using miniplasmids, transposon and S/MAR for von Willebrand disease gene therapy (TRANSPOSMART)
  • An integrated clinical and scientific approach for craniofacial malformations (CRANIRARE-2)
  • Eugène Devic European Network: establishment and use of an European database and biological bank for research and treatment in acute neuromyelitis optica and related disorders (EDEN)
  • Genetics of cortical gyral dysgenesis and pathophysiology of tubulin-related malformations of cortical development (TUB-GENCODEV)
  • Mitochondrial Disorders – Connecting Biobanks, Empowering Genetic Diagnostics and Exploring Disease Models (GENOMIT)
  • MTM1 and MTMR2 myotubularins: biochemical activity and the regulation of membrane trafficking in health and disease (MTMpathies2)
  • Nosology and molecular diagnosis of the degenerative recessive ataxias (Euro-SCAR)
  • The Epidermal Growth Factor System in Rare Glomerular Disease: From Molecular Mechanisms to Therapeutics (Rare-G)
  • WHIM syndrome: Pathological basis and Development of therapeutic molecules (WHIM-Thernet)

2010

  • Comprehensive analysis of rod-cone photoreceptor degeneration associated with Rhodopsin gene mutations (RHORCOD)
  • Congenital neutropenia with ELA-2 mutations (ELA2-CN): Identification of (epi)genetic co-factors and molecular pathways underlying clinical heterogeneity (ELA2-CN)
  • European Multidisciplinary Initiative on Neuroacanthocytosis (EMINA)
  • European Network on Genetics, Pathophysiology and Translational Research into Rare Pancreatic Beta-Cell Insufficiency Diseases (EuroGeBeta)
  • European network on Noonan Syndrome and related disorders (NsEuroNet)
  • European Pulmonary Alveolar Proteinosis Network : Molecular Determinants of Causes, Variability and Outcome (EuPAPNet)
  • European Research project on Mendelian Inherited Optic Neuropathie (ERMION)
  • Functional characterization of Nemaline Myopathy in a murine model with nebulin mutation: Moving from basic understanding towards therapeutic interventions (NEMMYOP)
  • Genetics and pathogenesis of chronic granulomatous disease and development of new gene transfer therapeutic approaches (EURO-CGD)
  • Identification of revertant mosaicism in epidermolysis bullosa and subsequently using the revertant keratinocytes in a pre-clinical mouse model suitable to test revertant cell therapy (EB)
  • Improvements of vector technology and safety for the gene therapy of thalassemia (GETHERTHAL)
  • Inherited inhibition of inborn immunity – an integrated molecular genetic approach to discover novel human gene defects (NEUTRO-NET)
  • Megalencephalic leukoencephalopathy with subcortical cysts: from molecular basis to search for therapy (MLC-Team)
  • Targeting Rho-signalling, a new therapeutic avenue in fragile X syndrome (Cure-FXS)
  • Towards improved diagnosis and treatment of rare inherited microcytic hypochromic anemias related to iron metabolism (HMA-IRON)
  • Understanding and treating neurogeneration caused by mucopolysaccharidoses (CAV-4-MPS)