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Progetti di ricerca

WIEN
WIEN
iDysChart: Charting key molecules and mechanisms of human immune Dysregulation
AKH BT 25.3
Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases

Ontario
TORONTO
Protein transport into and across cellular membranes
Sunnybrook Health Sciences Centre
Sunnybrook Research Institute

KOREA, REPUBLIC OF
SEOUL
Biology of cystatins: development of new drugs against amyloidosis based upon the structure of cystatin C
Seoul National University Hospital
Molecular Diagnostics Laboratory

AUVERGNE-RHONE-ALPES
BRON
Genetic transmission of familial forms of sarcoidosis
CHU de Lyon HCL - GH Est
Unité Médicale de Génétique des Cancers et des Maladies Multifactorielles

AUVERGNE-RHONE-ALPES
BRON
Genetic transmission of familial forms of sarcoidosis
CHU de Lyon HCL - GH Est-Hôpital Louis Pradel
Service de pneumologie

HAUTS-DE-FRANCE
LILLE
Set up of SAP component scintigraphy for diagnosis and follow-up of amyloidosis
CHRU de Lille - Hôpital Claude Huriez
Service de médecine interne

HAUTS-DE-FRANCE
LILLE
Set up of SAP component scintigraphy for diagnosis and follow-up of amyloidosis
CHRU de Lille - Hôpital Roger Salengro
Service de Médecine nucléaire et imagerie fonctionnelle

ILE-DE-FRANCE
BOULOGNE-BILLANCOURT
Impact of pulmonary disorder and effect of embolization of pulmonary arteriovenous malformations on the quality of life in the Rendu-Osler disease
CHU Paris IdF Ouest - Hôpital Ambroise Paré
Service de Radiologie

ILE-DE-FRANCE
CRÉTEIL
Mechanisms of regulation of muscle stem cell quiescence by the extracellular matrix of the niche
CHU Henri Mondor

Baden-Württemberg
FREIBURG
Epidemiology and immunologic mechanism in the pathogenesis of malignant atrophic papulosis (Degos disease)
Venenzentrum Freiburg

Nordrhein-Westfalen
AACHEN
POTSKog-Study Aachen: Understanding Impaired Concentration, Attentional Deficits and Their Pathophysiology in Postural Orthostatic Tachycardia Syndrome (POTS) and Other Autonomic Neuropathies
Universitätsklinikum Aachen
Klinik für Neurologie

Nordrhein-Westfalen
AACHEN
ProANS-Study: Autonomic Neuropathy and Its Pathophysiology in Autoimmune Autonomic Neuropathies, Postural Orthostatic Tachycardia Syndrome and Ehlers Danlos Syndromes: Peripheral Autonomic Small Fiber Neuropathy or Central Autonomic Failure?
Universitätsklinikum Aachen
Klinik für Neurologie

Nordrhein-Westfalen
ESSEN
Evaluation of Video-assisted Instructions of Nasal Self-packing in Patients With HHT
Universitätsklinikum Essen
Klinik für Hals-Nasen und Ohrenheilkunde

Sachsen-Anhalt
DESSAU
Epidemiology and immunologic mechanism in the pathogenesis of malignant atrophic papulosis (Degos disease)
Städtisches Klinikum Dessau
Klinik für Dermatologie, Venerologie und Allergologie / Immunologisches Zentrum

Thüringen
JENA
Prediction of Early-Onset Neonatal Sepsis (EONS) in Pregnant Women With Preterm Premature Rupture of Membranes (PPROM) by Vaginal Microbiome Analysis - a Pilot Study
Universitätsklinikum Jena
Klinik für Geburtsmedizin

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

SUL
LISBOA
Protein glycation and transthyretin amyloidogenesis in yeast: A model system of neurodegenerative amyloid diseases.
Faculdade de Ciências da Universidade de Lisboa
Laboratório de Enzimologia

Greater Manchester
SALFORD
The UK Calciphylaxis Study
Salford Royal NHS Foundation Trust

Andalucía
CÓRDOBA
Identification of molecular heterogeneity associated with cardiovascular disease, clinical course and therapeutic response in systemic autoimmune diseases
IMIBIC - Instituto Maimónides de Investigación Biomédica de Córdoba
GC05 - Grupo de investigación en enfermedades autoinmunes inflamatorias sistémicas y crónicas del aparato locomotor

Castilla - León
SALAMANCA
Effect of endoglin expression on the capacity of MSCs to modulate angiogenesis: a potential therapeutic approach to vascular malformations characteristic of HHT
IBSAL - Instituto de Investigación Biomédica de Salamanca
Fisiopatología vascular y renal

Comunidad Valenciana
VALENCIA
Validation of biomarkers for diagnosis and prognosis of neonatal sepsis
INCLIVA - Facultad de Medicina de la Universidad de Valencia
Grupo de investigación en fisiopatología celular y orgánica del estrés oxidativo

Madrid
MADRID
Genetic diagnosis of hereditary hemorrhagic telangiectasia (HHT): the HHT genome
Centro de Investigaciones Biológicas (CSIC)
Biología Celular y Molecular

Region Uppsala
UPPSALA
Pathophysiological studies on AA, AL and TTR amyloidoses
Uppsala Universitet
Department of immunology, Genetics and Pathology, IGP

WIEN
ADDRESS: NOT PROVIDED - AT
SABLE: A 5-Year Prospective Observational Registry to Assess Adverse Events of Interest and Effectiveness in Adults With Active, Autoantibody-Positive Systemic Lupus Erythematosus Treated With or Without BENLYSTA (Belimumab) - AT
Institution: Information not provided - AT

WIEN
ADDRESS: NOT PROVIDED - AT
TRAM2: TTR Screening - Screening for Hereditary Transthyretin Related Amyloidosis - an International, Multicentre, Epidemiological Protocol - AT
Institution: Information not provided - AT

OOST-VLAANDEREN
GENT
Characterisation of genes and molecular mechanisms involved in hereditary connective tissue diseases by studying transgenic animal models and human tissues
Center for Medical Genetics Gent
Centrum voor Medische Genetica

OOST-VLAANDEREN
GENT
Designing an integrated platform for the development of more precise medicine in Heritable Thoracic Aortic Disease
Center for Medical Genetics Gent
Centrum voor Medische Genetica

Colombie-Britannique
VANCOUVER
Cellular Mechanisms underlying vascular dysfunction & aortic aneurysm in Marfan syndrome
University of British Columbia
CFRI - Child and Family Research Institute

Finland
HELSINKI
FinnDisMice- Mouse Models for Finnish Disease Heritage
University of Helsinki

ILE-DE-FRANCE
PARIS
Evaluation and treatement of scleroderma
CHU Paris Est - Hôpital Saint-Antoine
Service de médecine interne

ILE-DE-FRANCE
PARIS
Epidemiological, Clinical and Etiological Features of SUSAC's Syndrome (CARESS)
CHU Paris Nord-Val de Seine - Hôpital Xavier Bichat-Claude Bernard
Service de médecine interne

PROVENCE-ALPES-COTE D'AZUR
AIX-EN-PROVENCE
Psychosocial consequences of systemic lupus erythematosus: a study of patients and their spouses
Aix-Marseille Université
Laboratoire de Psychologie Sociale (LPS) - EA 849

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE
IgG4 in inflammatory neuropathies: pathogenic effects and novel targets
Faculté de médecine de Marseille - Secteur Nord
Centre de Recherche en Neurobiologie et Neurophysiologie de Marseille

Baden-Württemberg
FREIBURG
GAIN: German network for research and therapy optimization of patients with multi-organ autoimmune diseases
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz

Baden-Württemberg
HEIDELBERG
ReDox: Repurposing doxycycline in the treatment of AL amyloidosis - DE
Zentrum für Innere Medizin (Krehl-Klinik)
Abteilung Innere Medizin V - Hämatologie, Onkologie und Rheumatologie

Bayern
MÜNCHEN
Establishment of surface plasmon resonance (SPR) tests for improved diagnostics of autoimmune diseases
Klinikum rechts der Isar der Technischen Universität München
Arbeitsgruppe Biosensorik

Berlin
BERLIN
Investigation of relevant biomarkers in patients with susac syndrome
Charité - Universitätsmedizin Berlin (CCM)
NeuroCure Clinical Research Center - AG Klinische Neuroimmunologie

Hamburg
HAMBURG
International Inceptions cohort for Juvenile Systemic Sclerosis (jSSc)
Schön Klinik Hamburg Eilbek
Hamburger Zentrum für Kinder- und Jugendrheumatologie

Niedersachsen
HANNOVER
GAIN: German network for research and therapy optimization of patients with multi-organ autoimmune diseases
Medizinische Hochschule Hannover
Klinik für Rheumatologie und Immunologie

Nordrhein-Westfalen
MÜNSTER
Susac syndrome (SuS) as a paradigm of a CD8 T-cell mediated endotheliopathy
Universitätsklinikum Münster
Klinik für Neurologie mit Institut für Translationale Neurologie

Schleswig-Holstein
KIEL
GAIN: German network for research and therapy optimization of patients with multi-organ autoimmune diseases
Universitätsklinikum Schleswig-Holstein - Campus Kiel
Klinik für Innere Medizin I

Schleswig-Holstein
LÜBECK
Generation and characterization of an antibody-based mouse model for systemic sclerosis
Universitätsklinikum Schleswig-Holstein - Campus Lübeck
Klinik für Rheumatologie und Klinische Immunologie

JAPAN
KUMAMOTO
The investigation on the efficacy of new low molecular compound for systemic sclerosis
Faculty of Life Sciences, Kumamoto University
Department of Dermatology and Plastic Surgery

JAPAN
KYOTO
Multiomics analyses integrating genome/transcriptome/metabolome to elucidate the pathology of rare intractable diseases
Kyoto University Graduate School of Medicine

CAMPANIA
NAPOLI
Sviluppo di trattamenti e prevenzione della cardiopatia grave nella sclerosi sistemica
AOU Università degli Studi della Campania "Luigi Vanvitelli"- Cappella Cangiani
Divisione di Reumatologia

CAMPANIA
NAPOLI
Sviluppo di trattamenti e prevenzione dell'ipertensione polmonare nella sclerosi sistemica
AOU Università degli Studi della Campania "Luigi Vanvitelli"- Cappella Cangiani
Divisione di Reumatologia

CAMPANIA
NAPOLI
Prevenzione e trattamento delle ulcere digitali nella sclerosi sistemica
AOU Università degli Studi della Campania "Luigi Vanvitelli"- Cappella Cangiani
Divisione di Reumatologia

EMILIA ROMAGNA
ADDRESS: NOT PROVIDED - IT
Role of PTX3 in the pathogenesis of idiopathic inflammatory myopathies
Institution: Information not provided - IT

TOSCANA
FIRENZE
Sviluppo di trattamenti e prevenzione della cardiopatia grave nella sclerosi sistemica
AOU Careggi
S.O.D. di Reumatologia

TOSCANA
FIRENZE
Sviluppo di trattamenti e prevenzione dell'ipertensione polmonare nella sclerosi sistemica
AOU Careggi
S.O.D. di Reumatologia

TOSCANA
FIRENZE
Prevenzione e trattamento delle ulcere digitali nella sclerosi sistemica
AOU Careggi
S.O.D. di Reumatologia

Østlandet
OSLO
Cardiovascular complications, craniofacial aberrations, impaired breathing during sleep, sleep distruption, and fatigue in adults witth verified Marfan syndrome
Lovisenberg Diakonale Sykehus AS
TAKO-senteret Nasjonalt kompetansesenter for oral helse ved sjeldne diagnoser

Andalucía
GRANADA
Urinary biomarkers for the non-invasive diagnosis of kidney disease in systemic autoimmune diseases
GENYO - Genómica e Investigación Oncológica
Grupo de Genética de enfermedades complejas

Cataluña
BARCELONA
Chimeric autoantigen receptor T cells (CAAR-Tcell) as a new targeted therapy for lupus nephritis
Vall d'Hebron Institut de Recerca VHIR
Grupo de investigación en reumatología

Comunidad Valenciana
VALENCIA
Profile of exosomal microRNAs and their long-term prognostic value in systemic lupus erythematosus. Association with established markers of kidney damage
INCLIVA - Facultad de Medicina de la Universidad de Valencia
Grupo de estudio de riesgo cardiometabólico y renal

Washington
ADDRESS: NOT PROVIDED - US
Contribution of adipocytes and adipose secreted factors to fibrosis in systemic sclerosis
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Innate immune activation in autoimmune myopathy
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Marfan aortic embryologic origin influences mir-29b regulators and targets
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Mouse models for systems therapeutics degenerative diseases
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Systemic sclerosis (ssc) vasculopathy: improved clinical monitoring and treatment
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Systemic sclerosis-associated interstitial lung disease response index
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Project 1 biomarkers of disease activity and progression in systemic sclerosis
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Project 1: systemic sclerosis skin biomarkers & therapeutics
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Project 3: targeting pro-fibrotic e3 ligases in systemic sclerosis
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Targeting jak3 in the treatment of autoimmune disease
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Targeting janus kinases in the treatment of autoimmune disease
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Translational immunology research: a support for clinical immunological research
Institution: Information not provided - US

Suisse Alémanique
BASEL
Complement-dependent pathogenic mechanisms in systemic autoimmunity
Universitätsspital Basel
Klinische Immunologie

Suisse Alémanique
BERN
ATTR Amyloidosis in Elderly Patients With Aortic Stenosis
University Hospital Inselspital
Universitätsklinik für Kardiologie

Suisse Alémanique
ZÜRICH
Rescue from fatal multiorgan fibrosis in systemic sclerosis- novel insights: targeting specific stromal and myeloid cell populations
UniversitätsSpital Zürich
Klinik für Rheumatologie

TIROL
INNSBRUCK
TTRACK: Prevalence and Characteristics of Transthyretin Amyloidosis in Patients With Left Ventricular Hypertrophy of Unknown Etiology - AT
Medizinische Universität Innsbruck
Universitätsklinik für Innere Medizin III - Kardiologie und Angiologie

WIEN
ADDRESS: NOT PROVIDED - AT
An Observational Long-Term Safety Surveillance Study of Participants from Corbus Sponsored Lenabasum Pivotal Clinical Trials - AT
Institution: Information not provided - AT

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR
Oxidative stress: the main pathogenic process in myositis?
Institution: Information not provided - FR

CAMPANIA
CASERTA
TTR-FAP Italian Registry: a collaborative network for definition of natural history, psychosocial burden, standards of care and clinical trials
Università degli Studi della Campania Luigi Vanvitelli
Dipartimento di Psicologia

Utrecht
ADDRESS: NOT PROVIDED - NL
Evaluation of dysphagia in inclusion body myositis and oculopharyngeal muscle dystrophy by combining novel ultrasound and real-time MRI
Institution: Information not provided - NL

Utrecht
UTRECHT
GMA - Group medical appointments for neuromuscular patients: To compare group medical appointments (shared medical appointments or group visits) with conventional one to one appointments for patients with a chronic neuromuscular disease in terms of health outcome (quality of life) and costs, an intervention study.
Piet van Dommelenhuis
CBO - Kwaliteitsinstituut voor de gezondheidszorg

Zuid-Holland
LEIDEN
GMA - Group medical appointments for neuromuscular patients: To compare group medical appointments (shared medical appointments or group visits) with conventional one to one appointments for patients with a chronic neuromuscular disease in terms of health outcome (quality of life) and costs, an intervention study.
LUMC - Leids Universitair Medisch Centrum
Afdeling Public Health en Eerstelijnsgeneeskunde

NORTE
PORTO
Dissecting nerve regeneration and the neuritogenic activity of TTR
Instituto de Biologia Molecular e Celular
Nerve Regeneration Group

NORTE
PORTO
Phenotypic variability and modifier genes in Familial Amyloid Polyneuropathy (FAP ATTRV30M)
Instituto de Biologia Molecular e Celular
Unidade de Investigação Genética e Epidemiológica em Doenças Neurológicas

NORTE
PORTO
Therapies in familial amyloidotic polyneuropathy
Instituto de Biologia Molecular e Celular
Unidade de Neurobiologia Molecular

NORTE
PORTO
Molecular basis of nervous system dysfunction on amyloid neuropathies
Instituto de Biologia Molecular e Celular
Unidade de Neurobiologia Molecular

SUL
LISBOA
TTR amyloid fibril formation in vivo - Looking beyond genetic factors
Faculdade de Ciências da Universidade de Lisboa
Laboratório de Enzimologia

Cambridgeshire
CAMBRIDGE
Pathogenic mechanisms and effects of treatment in chronic, idiopathic inflammatory myopathies, myositis
University of Cambridge
Department of Medicine

Greater London
LONDON
Understanding the lived experience and psychosocial needs of children and young people with Juvenile Dermatomyositis: a mixed methods study
GOSH NHS Foundatin Trust
Great Ormond Street Hospital

Cataluña
BARCELONA
Sporadic inclusion body myositis: development of new cellular models for biomarkers identification and therapeutic strategies
Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS)
Laboratorio de investigación muscular y función mitocondrial

Madrid
MAJADAHONDA
Characterization and early detection of atrial arrhythmias and conduction disorders in transthyretin cardiac amyloidosis
Hospital Universitario Puerta de Hierro - Majadahonda
Servicio de Cardiopatías Familiares

Washington
ADDRESS: NOT PROVIDED - US
Direct regulation of extracellular proteostasis by the unfolded protein response
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Addressing critical knowledge gaps in early diffuse scleroderma trial design
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Applying bioinformatics to research in immune; muscle; and bone diseases
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Biomarkers of pulmonary complications of scleroderma: the ssc-pah and
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Connective tissue diseases/inflammatory myopathies--polymyositis/dermatomyositis
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Immunopathogen autoimmune inflammatory myopathies--polymyositis/dermatomyositis
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Solid-state nmr structural characterizations of polymorphic transthyretin amyloids
Institution: Information not provided - US

Region Stockholm
ADDRESS: NOT PROVIDED - SE
Epigenetic modulation of pro-inflammatory cell stress in inclusion body myositis
Institution: Information not provided - SE

Region Stockholm
STOCKHOLM
Histidyl tRNA synthetase – Connecting lungs to muscle inflammation
Karolinska Institutet - Solna
Department of Medicine

Region Västerbotten
UMEÅ
Mechanistic and structural elucidation of amyloid and its cytotoxic propensity
Umeå University
Department of medical biochemistry and biophysics

Ontario
TORONTO
The Effect of Creatine Supplementation on Muscle Function in Childhood Myositis
Hospital for Sick Children, Research Institute

Greater London
LONDON
Sub-phenotyping in juvenile dermatomyositis (JDM), a rare and serious autoimmune childhood disorder, within the UK JDM Cohort and Biomarker Study: from phenotype to stratified treatments
GOSH NHS Foundatin Trust
Juvenile Dermatomyositis Research Centre

Greater London
LONDON
Development of an assessment tool for the measurement of fatigue and endurance in children with Juvenile Dermatomyositis
GOSH NHS Foundatin Trust
Rheumatology Unit

Greater London
LONDON
An international survey of physiotherapy interventions in the management of Juvenile Dermatomyositis
GOSH NHS Foundatin Trust
Rheumatology Unit

Washington
ADDRESS: NOT PROVIDED - US
Juvenile myositis
Institution: Information not provided - US
Progetti di ricerca multicentrici
- Institut für Immunologie
- Institut für Immunologie der Universitätsmedizin Rostock
- Ospedale San Giuseppe
- Il Polmone.it - Malattie Rare Polmonari
- Sanifit Laboratoris SL
- Uppsala Universitet
- Department of immunology, Genetics and Pathology, IGP
- CHU Paris IdF Ouest - HEGP Hôpital Européen Georges Pompidou
- Thérapie cellulaire en pathologie cardiovasculaire
- CHU Paris Nord-Val de Seine - Hôpital Xavier Bichat-Claude Bernard
- Service de cardiologie
- CHU Paris-GH St-Louis Lariboisière F.Widal - Hôpital Saint-Louis
- MATHEC - Maladies Auto-Immunes et Thérapie Cellulaire
- Kerckhoff-Klinik GmbH
- Abteilung für Rheumatologie und klinische Immunologie
- Fondazione IRCCS Policlinico San Matteo
- Laboratorio di Diagnostica Molecolare, Patologia Cardiovascolare e dei Trapianti
- Fondazione IRCCS Policlinico San Matteo
- Dipartimento di Medicina Molecolare
- GOSH NHS Foundatin Trust
- Rheumatology Unit
- GOSH NHS Foundatin Trust
- Rheumatology Unit
- Alder Hey Children's Hospital
- Department of Rheumatology

Mecklenburg-Vorpommern
ROSTOCK
AUTOROME: from immune responses in rare autoimmune diseases to novel therapeutic intervention strategies-a personalized medicine approach (FINISHED)

LOMBARDIA
MILANO
Il Polmone.it - Malattie Rare Polmonari

Baleares
PALMA DE MALLORCA
Phase 2 Open Label Single Arm Repeat Dose Study to Assess the Effect of SNF472 on Wound Healing in Uraemic Calciphylaxis Patients

Region Uppsala
UPPSALA
EURAMY: systemic amyloidoses in Europe

ILE-DE-FRANCE
PARIS
MITRAL

ILE-DE-FRANCE
PARIS
French research network on Marfan syndrome and nonsyndromic related diseases

ILE-DE-FRANCE
PARIS
NISSC-2 : Post AHSCT (Autologous Hematopoietic Stem Cell Transplantation) management for patients with systemic sclerosis: a prospective, non-interventional approach across Europe

Hessen
BAD NAUHEIM
DESSCIPHER: To decipher the optimal management of systemic sclerosis

LOMBARDIA
PAVIA
GIMS: Gruppo Interdisciplinare Sindrome di Marfan

LOMBARDIA
PAVIA
ReDox : Repurposing doxycycline in the treatment of AL amyloidosis

Greater London
LONDON
ENJD: European Network for Juvenile Dermatomyositis

Greater London
LONDON
Juvenile Dermatomyositis Research Group (JDRG)

Merseyside
LIVERPOOL