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Funded by an IRDiRC member =

Research projects

GERMANY

Baden-Württemberg
HEIDELBERG

Yoga in Patients With Fibrosing Interstitial Lung Diseases
Thoraxklinik-Heidelberg gGmbH
Abteilung für Pneumologie und Beatmungsmedizin

GERMANY

Bayern
MÜNCHEN

Funded by an IRDiRC memberHCQ4Surfdefect : Hydroxychloroquine (HCQ) in pediatric ILD -DE-
Kinderklinik und Kinderpoliklinik im Dr. von Haunerschen Kinderspital
Christiane Herzog Ambulanz

AUSTRIA

WIEN
WIEN

ALARM: Advisory Lead ARDS Respirator Management
Allgemeines Krankenhaus der Stadt Wien
Klinische Abteilung für Allgemeine Anästhesie und Intensivmedizin

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
BRON

Transmission génétique des formes familiales de sarcoidose
CHU de Lyon HCL - GH Est
Unité Médicale de Génétique des Cancers et des Maladies Multifactorielles

FRANCE

AUVERGNE-RHONE-ALPES
BRON

Transmission génétique des formes familiales de sarcoidose
CHU de Lyon HCL - GH Est-Hôpital Louis Pradel
Service de pneumologie

GERMANY

Berlin
BERLIN

Surface electromyography in patients with Acute Respiratory Distress Syndrome (ARDS)
Charité - Universitätsmedizin Berlin (CBF)
Klinik für Anästhesiologie mit Schwerpunkt operative Intensivmedizin

HUNGARY

Dél-Dunántúl
PECS

IRELAND

County Galway
GALWAY

Development of a nebulised cell based therapy for acute respiratory distress syndrome
National University of Ireland Galway
School of Medicine

NETHERLANDS

Utrecht
NIEUWEGEIN

Genetic predisposition to interstitital lung diseases and disease phenotypes
St. Antonius Ziekenhuis, locatie Nieuwegein
Longcentrum

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberInhaled gm-csf therapy of autoimmune pulmonary alveolar proteinosis
Institution: Information not provided - US

AUSTRIA

TIROL
INNSBRUCK

AUSTRIA

TIROL
INNSBRUCK

Funded by an IRDiRC memberPersTIgAN: Personalized Treatment in IgA Nephropathy - AT
Medizinische Universität Innsbruck
Universitätsklinik für Innere Medizin IV - Nephrologie und Hypertensiologie

CANADA

Ontario
KINGSTON

Funded by an IRDiRC memberIIH-ECC: Idiopathic Infantile Hypercalcemia - European-Canadian Consortium -CA
Queen's University
Department of Biomedical and Molecular Sciences

CANADA

Ontario
TORONTO

CANADA

Québec
MONTRÉAL

FRANCE

AUVERGNE-RHONE-ALPES
GRENOBLE

USIDNET: modelization of X+CGD chronic granulomatous disease and Nox2 super oxidase mutants in the PLB-985 cell line to study the NADPH oxidase activation process
CHU de Grenoble et des Alpes - Institut de biologie et de pathologie
Centre Diagnostic et Recherche sur la Granulomatose Septique Chronique

FRANCE

AUVERGNE-RHONE-ALPES
LA TRONCHE

NOX NADPH oxydases in inflammatory response: physiopathological aspects, regulation mechanism and modeling
Université Grenoble Alpes (UGA) - Campus santé
GREPI : Groupe de Recherche et d'Etudes du Processus Inflammatoire

FRANCE

AUVERGNE-RHONE-ALPES
LA TRONCHE

Validation of a new concept of cell therapy by transfer of proteins in enzymopathies: application to the Chronic septic granulomatosis
Université Grenoble Alpes (UGA) - Campus santé
GREPI : Groupe de Recherche et d'Etudes du Processus Inflammatoire

FRANCE

CENTRE-VAL DE LOIRE
TOURS

Funded by an IRDiRC memberAcoustic Waves and Helium/oxygen for Aerosol Treatment of Idiopathic Pulmonary Fibrosis (IPF)
Faculté de Médecine, Université de Tours François Rabelais
Équipe Inserm 3 : « Aérosolthérapie et biothérapies à visée respiratoire »

FRANCE

GRAND-EST
STRASBOURG CEDEX

Funded by an IRDiRC memberRare Invisible Disease and Schooling of Children
ESPE de Strasbourg
Equipe Apprentissages, pratiques d'enseignement et d'éducation

FRANCE

ILE-DE-FRANCE
CRÉTEIL

Surfactant deficiencies in chronic lung diseases in children
Centre Hospitalier Intercommunal de Créteil
Service de pédiatrie - Hôpital de jour

FRANCE

ILE-DE-FRANCE
PARIS

ERADAS and ERAFI: development and validation of the scores of activity and functional impairment in juvenile spondylitis
Hôpital Necker-Enfants Malades
Développement normal et pathologique du système immunitaire

FRANCE

ILE-DE-FRANCE
VILLEJUIF

Funded by an IRDiRC memberTransition Platforms: Understanding the Expectations of Parents of Young People with Rare Diseases
CLCC Institut Gustave Roussy
Equipe Epidémiologie des radiations, épidémiologie clinique des cancers et survie

GERMANY

Bayern
GAUTING

GERMANY

Berlin
ADDRESS: NOT PROVIDED - DE

Funded by an IRDiRC memberICON: Analysis of uveitism manifestation and outcome
Institution: Information not provided - DE

GERMANY

Berlin
BERLIN

JuMBO: Juvenile Arthritis - Methotrexate / Biologics long-term Observation
Deutsches Rheuma-Forschungszentrum Berlin
Forschungsbereich Epidemiologie

GERMANY

Nordrhein-Westfalen
MÜNSTER

Funded by an IRDiRC memberICON: Biosample collection and biomarker analysis
Universitätsklinikum Münster
Klinik für Kinder- und Jugendmedizin - Pädiatrische Rheumatologie und Immunologie

GERMANY

Nordrhein-Westfalen
SANKT AUGUSTIN

IRELAND

County Dublin
DUBLIN

IRELAND

County Dublin
DUBLIN

Urinary sCD163 as a biomarker in crescentic glomerulonephritis
Trinity College Dublin
Trinity Translational Medicine Institute

IRELAND

County Galway
GALWAY

ITALY

LIGURIA
GENOVA

ITALY

LOMBARDIA
MILANO

Pathogenesis and therapy of chronic granulomatous disease by gene transfer into hematopoietic stem cells
Istituto San Raffaele Telethon per la Terapia Genica - TIGET
Unità di Ricerca Clinica

ITALY

LOMBARDIA
MONZA

Nutritional Assessment in Idiopathic Pulmonary Fibrosis: a Pilot Study
ASST Monza - Ospedale San Gerardo
Dipartimento Cardio-Toraco-Vascolare

JAPAN

JAPAN
KYOTO

Funded by an IRDiRC memberDiscovery of novel therapeutic approach for Nakajo-Nishimura syndrome and Blau syndrome
Center for iPS Cell Research and Application, Kyoto University
Department of Clinical Application

SWEDEN

Region Stockholm
STOCKHOLM

UNITED KINGDOM

Greater London
LONDON

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberJuvenile myositis
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberNeuro-ophthalmic mechanisms of disease
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberTargeting jak3 in the treatment of autoimmune disease
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberAcid sphingomyelinase and niemann-pick disease
Institution: Information not provided - US

AUSTRIA

WIEN
WIEN

Funded by an IRDiRC memberRELENT: RELapses prevENTion in chronic autoimmune disease: common mechanisms and co-morbidities - AT
Medizinische Universität Wien
Klinisches Institut für Pathologie

AUSTRIA

WIEN
WIEN

From AAV (ANCA-associated vasculitis) to chronic kidney disease - contribution of TenascinC
Medizinische Universität Wien
Klinisches Institut für Pathologie

AUSTRIA

WIEN
WIEN

Funded by an IRDiRC memberExtracellular Vesicles (EV) as markers of active disease in AAV (ANCA-associated vasculitis) - AT
Medizinische Universität Wien
Klinisches Institut für Pathologie

IRELAND

County Dublin
DUBLIN

AVERT: Autoimmunity Relapse Prediction Using Multiple Parallel Data Sources
Trinity College Dublin
Trinity Translational Medicine Institute

ITALY

FRIULI VENEZIA GIULIA
UDINE

Role of protein misfolding in the pathogenesis of Niemann-Pick type C disease: a possible therapeutic target
Azienda Ospedaliero-Universitaria "Santa Maria della Misericordia" di Udine
Centro di Coordinamento Regionale per le Malattie Rare

ITALY

FRIULI VENEZIA GIULIA
UDINE

Screening of Niemann Pick type C among patients affected with psychiatric disease of unknown ethiology
Azienda Ospedaliero-Universitaria "Santa Maria della Misericordia" di Udine
Centro di Coordinamento Regionale per le Malattie Rare

ITALY

LAZIO
ROMA

Funded by an IRDiRC memberTargeting adenosine tone in Niemann Pick type C Disease
ISS - Istituto Superiore di Sanità
Centro Nazionale per la Ricerca e la Valutazione preclinica e clinica dei Farmaci

ITALY

PUGLIA
BARI

Physiopathology of HCV-related Cryoglobulinemic Vasculitis: molecular, immunological and clinical analisys
Azienda Ospedaliero-Universitaria Consorziale Policlinico di Bari
Unità di Epatologia - Sezione di Medicina Interna e Oncologia Clinica

ITALY

TOSCANA
PISA

Study of cellular mechanisms of neuronal dysfunction in Niemann Pick type C disease and identification of neuroprotective therapies
Fondazione "Gabriele Monasterio" - Consiglio Nazionale delle Ricerche CNR
Area della Ricerca

JAPAN

JAPAN
CHIBA

Funded by an IRDiRC memberPathological analysis and development ofan innovative therapeutic agent ofniemann-pick disease type C
Graduate School of Pharmaceutical Sciences, Chiba University
Laboratory of Chemical Pharmacology

JAPAN

JAPAN
KUMAMOTO

Funded by an IRDiRC memberDeveloping new drugs for Niemann-Pick disease type C
Institute of Molecular Embryology and Genetics, Kumamoto University
Department of Cell Modulation

JAPAN

JAPAN
OSAKA

Funded by an IRDiRC memberDeveloping the disease specific therapy for ANCA-associated vasculitis focused on immune regulatory factors in neutrophils
Osaka University Graduate School of Medicine
Department of Respiratory Medicine and Clinical Immunology

PORTUGAL

NORTE
PORTO

The sorting and trafficking of lysosomal proteins through M6P independent pathways: molecular, biochemical and functional studies
Instituto Nacional de Saúde Dr. Ricardo Jorge - Porto
Unidade de Investigação & Desenvolvimento; Departamento de Genética

UNITED KINGDOM

Glasgow
GLASGOW

Funded by an IRDiRC memberHarnessing the power of integrated data to investigate environmental exposures on ANCA vasculitis risk, an unbiased approach -GB
Institute of Infection, Immunity and Inflammation, University of Glasgow
Institute of Infection, Immunity and Inflammation

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberTherapeutics for rare and neglected diseases - science
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberDevelopment of neurosteroids for lysosomal storage disorders
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberGenetic analysis of complex inflammatory disorders
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberGenetic and genomic analysis of niemann pick type c1 disease
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberNovel regulators of inflammatory arthritis and bone erosion
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberPathogenesis of behcet's disease and still's disease
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberClinical investigations of niemann-pick disease; type c
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberInborn errors of cholesterol synthesis
Institution: Information not provided - US

FRANCE

ILE-DE-FRANCE
PARIS

Model contribution in the microeconomic assessment of therapeutic strategies in Wegener granulomatosis
CHU Paris Centre - Hôpital Cochin, Site Cochin
Service de Santé publique : Gestion des risques et qualité

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Multicentric Research projects