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Projets de recherche
ALLEMAGNE
Bayern
ERLANGEN
Early Diagnosis of Fabry Disease (FD): Using Real-World Data for the Development of Advanced Natural Language Processing Methods. Retrospective Observational Database Analysis (Part A) and Prospective Diagnostic Study (Part B)
Universitätsklinikum Erlangen - Kopfkliniken
Neurologische Klinik
ALLEMAGNE
Bayern
ERLANGEN
Early Diagnosis of Fabry Disease (FD): Using Real-World Data for the Development of Advanced Natural Language Processing Methods. Retrospective Observational Database Analysis (Part A) and Prospective Diagnostic Study (Part B)
ZSEER - Zentrum für Seltene Erkrankungen Erlangen
ALLEMAGNE
Bayern
WÜRZBURG
MALTA-FABRY: MigALastat Therapy Adherence Among FABRY Patients: A Prospective Multicentral Observational Study
Zentrum Innere Medizin (ZIM)
Medizinische Klinik und Poliklinik I - Fabry-Zentrum Würzburg
ALLEMAGNE
Bayern
WÜRZBURG
Fabry Disease in High-risk Patients With Left Ventricular Hypertrophy: Prevalence and Implementation of a Clinical Score
Zentrum Innere Medizin (ZIM)
Medizinische Klinik und Poliklinik I - Fabry-Zentrum Würzburg
ALLEMAGNE
Berlin
BERLIN
Fabry_VS_amyloidosis: regional biventricular and biatrial strain for differentiation of Fabry disease and amyloidosis with cardiac involvement
Charité - Universitätsmedizin Berlin (CCM)
Medizinische Klinik mit Schwerpunkt Kardiologie und Angiologie
ALLEMAGNE
Berlin
BERLIN
CORD : Collaboration On Rare Diseases
Geschäftsstelle BIH
Berliner Institut für Gesundheitsforschung
ALLEMAGNE
Mecklenburg-Vorpommern
ROSTOCK
Biomarker for Patients With Fabry Disease (BioFabry): An international, multicenter, epidemiological protocol - DE
CENTOGENE GmbH
ALLEMAGNE
Rheinland-Pfalz
MAINZ
Early Diagnosis of Fabry Disease (FD): Using Real-World Data for the Development of Advanced Natural Language Processing Methods. Retrospective Observational Database Analysis (Part A) and Prospective Diagnostic Study (Part B)
Universitätsmedizin Mainz
Villa Metabolica - Schwerpunktbereich angeborene Stoffwechselerkrankungen
AUTRICHE
WIEN
ADDRESS: NOT PROVIDED - AT
A Prospective, Observational Registry of Patients with Fabry Disease - AT
Institution: Information not provided - AT
AUTRICHE
WIEN
WIEN
NeuroLSD: Neuro-metabolic, structural and functional hallmarks of Lysosomal Storage Diseases - AT
Allgemeines Krankenhaus der Stadt Wien
Klinische Abteilung für Endokrinologie und Stoffwechsel
CANADA
Ontario
TORONTO
The FACTs Project: FAbry disease Clinical research and Therapeutics
Toronto General Hospital
University Health Network (UHN)
ESPAGNE
Cataluña
BARCELONA
Engineered extracellular vesicles for improving the treatment of lysosomal storage disorders (NEX-TRY)
Vall d'Hebron Institut de Recerca VHIR
Vall d'Hebron Institut de Recerca
ETATS-UNIS
Washington
ADDRESS: NOT PROVIDED - US
Diagnosis and Predictive Value of the Ocular Manifestations of Fabry Disease
Institution: Information not provided - US
FRANCE
ILE-DE-FRANCE
GARCHES
Compréhension des mécanismes physiopathologiques de la maladie de Fabry
CHU Paris IdF Ouest - Hôpital Raymond Poincaré
Service de Génétique Médicale - Centre de référence Maladies Rares
ITALIE
LAZIO
ROMA
Immune-mediated myocarditis in Fabry disease cardiomyopathy causes disease progression and resistance to enzyme replacement therapy. Influence of immunosuppressive therapy
Policlinico Umberto I
Dipartimento di Scienze Cardiovascolari e Respiratorie
ITALIE
LOMBARDIA
SAN DONATO MILANESE
Effect of Migalastat on Cardiac Involvement in Fabry Disease
IRCCS Policlinico San Donato
U.O. Imaging Cardiaco Multimodale
ITALIE
SICILIA
PALERMO
Study of enzymatic and genetic alterations in Fabry disease for diagnosis purpose
Consiglio Nazionale delle Ricerche
Laboratorio di Neuroscienze
NORVEGE
Østlandet
OSLO
Longitudinal changes in health related quality of life in individuals with Fabry disease
Oslo University Hospital, Ullevaal
NKSD - Nasjonal kompetansetjeneste for sjeldne diagnoser
PAYS-BAS
Noord-Holland
AMSTERDAM
Overcoming the negative effect of anti αGAL antibody formation in Fabry disease
Amsterdam UMC
Afdeling Erfelijke Stofwisselingsziekten
PAYS-BAS
Noord-Holland
AMSTERDAM
Lipid profiles in Niemann Pick disease
Amsterdam UMC
Afdeling Erfelijke Stofwisselingsziekten
PAYS-BAS
Noord-Holland
AMSTERDAM
The Fabry Cardio Prediction Study
Amsterdam UMC
Afdeling Erfelijke Stofwisselingsziekten
PAYS-BAS
Noord-Holland
AMSTERDAM
Secondary pathophysiology in Fabry disease, Gaucher disease and ASMD
Amsterdam UMC
Afdeling Erfelijke Stofwisselingsziekten
PAYS-BAS
Noord-Holland
AMSTERDAM
FEISTY: The Fabry Exercise Intolerance Study
Amsterdam UMC
Afdeling Erfelijke Stofwisselingsziekten
PORTUGAL
NORTE
PORTO
Prevalence of Fabry Disease (FD) in individuals at risk (patients with kidney dysfunction, submitted to haemodialysis; young patients with stroke; patients with left ventricular hypertrophy)
Instituto de Biologia Molecular e Celular
Unidade de Biologia do Lisossoma e do Peroxissoma
PORTUGAL
NORTE
PORTO
Fabry disease- an immunological study
Instituto de Biologia Molecular e Celular
Unidade de Biologia do Lisossoma e do Peroxissoma
PORTUGAL
SUL
LISBOA
Stroke in Young Fabry Patients (sifap2): Characterization of the Stroke Rehabilitation in Young Patients With Fabry Disease: An Epidemiological, International, Multicenter Prognosis Study
Centro Hospitalar Universitário de Lisboa Central, EPE - Hospital S. José
Unidade Cerebrovascular
ROYAUME-UNI
Greater London
LONDON
Early Diagnosis of Fabry Disease (FD): Using Real-World Data for the Development of Advanced Natural Language Processing Methods. Retrospective Observational Database Analysis (Part A) and Prospective Diagnostic Study (Part B)
Takeda Development Centre Europe Ltd.
ROYAUME-UNI
Greater Manchester
MANCHESTER
Characterisation of Heart Involvement in Fabry Disease With T1 Mapping (T1)
Central Manchester University Hospitals NHS Foundation Trust
Manchester University Hospitals NHS Foundation Trust
PORTUGAL
NORTE
PORTO
Splicing therapeutics for patients affected by lisosomal storage disorders.
Instituto Nacional de Saúde Dr. Ricardo Jorge - Porto
Unidade de Investigação & Desenvolvimento; Departamento de Genética
PORTUGAL
NORTE
PORTO
The crosstalk between lipid antigen presentation and the pathogenic mechanisms of Lysosomal Storage Diseases
Instituto de Biologia Molecular e Celular
Unidade de Biologia do Lisossoma e do Peroxissoma
SUEDE
Region Västerbotten
UMEÅ
Familial long QT syndrome and familial hypertrophic cardiomyopathy in Sweden: clinical, molecular, genetic and experimental studies
Umeå Universitet
Department of Public Health and Clinical Medicine
CANADA
Ontario
OTTAWA
Emerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
Children's Hospital of Eastern Ontario
Newborn Screening Ontario
CANADA
Ontario
OTTAWA, ONTARIO
Emerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
University of Ottawa
Department of Epidemiology and Community Medicine
ETATS-UNIS
Washington
ADDRESS: NOT PROVIDED - US
Basic and clinical studies in immune function and metabolism
Institution: Information not provided - US
ETATS-UNIS
Washington
ADDRESS: NOT PROVIDED - US
Metabolic engineering in humans: altered gut microbes as a therapeutic platform
Institution: Information not provided - US
FRANCE
ILE-DE-FRANCE
PARIS
Etudes structurales de la myosine cardiaque pour les approches thérapeutiques contre HCM
CLCC Institut Curie
Motilité structurale
ITALIE
LAZIO
ROMA
The Italian Expanded newborn screening program
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
NORVEGE
Østlandet
OSLO
Nordic HCM-register
Oslo University Hospital, Rikshospitalet
Nasjonal behandlingstjeneste for kirurgisk behandling ved kraniofaciale misdannelser
ROYAUME-UNI
Avon
BRISTOL
MetBioNet - National Metabolic Biochemistry Network.
Southmead Hospital
North Bristol NHS Trust
ROYAUME-UNI
South Yorkshire
SHEFFIELD
MetBioNet - National Metabolic Biochemistry Network.
The Sheffield Children's Hospital
Department of Clinical Chemistry
SUEDE
Region Stockholm
SOLNA
Inborn errors of endocrinology and metabolism
Karolinska Institutet
Department of Molecular Medicine and Surgery (MMK)
SUISSE
Suisse Alémanique
ZÜRICH
Enterobacteria Strain-level Characterization in Children With Inborn Errors of Metabolism (IEM)
Universitäts - Kinderspital Zürich - Eleonorenstiftung
Abteilung für Stoffwechselkrankheiten
SUISSE
Suisse Romande
LAUSANNE
Cardiac Manifestations in Adult Patients With Inherited Metabolic Disease: a Case Series
Centre Hospitalier Universitaire Vaudois CHUV - Hôpital Beaumont
CMM - Centre des Maladies Moléculaires
CANADA
Colombie-Britannique
VICTORIA
Silent Genomes: Reducing health care disparities and improving diagnostic success for children with genetic diseases from Indigenous populations
University of Victoria
Community Genetics Research Program/Island Medical Program
CANADA
Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute
ESPAGNE
Andalucía
SEVILLA
Development of bioinformatic tools for the automatic handling of secondary findings and their use in genetic and pharmacogenetic counseling
Fundación Progreso y Salud
Área de bioinformática clínica
ESPAGNE
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Centro de Regulación Genómica
Archivo europeo de genomas y fenomas del CRG
ESPAGNE
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Clínic de Barcelona
Servicio de Inmunologia
ESPAGNE
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari Vall d'Hebron
Laboratorio de Genética
ESPAGNE
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital de la Santa Creu i Sant Pau
Servicio de Genética
ESPAGNE
Cataluña
ESPLUGUES DE LLOBREGAT
Federated network for functional genomics of undiagnosed and rare diseases, RareFunction
Fundació Sant Joan de Déu - Institut de Recerca Sant Joan de Déu
Grupo de investigación en Neurogenética y Medicina Molecular
ESPAGNE
Cataluña
ESPLUGUES DE LLOBREGAT
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Sant Joan de Déu Barcelona
Servicio de Laboratorio
ESPAGNE
Cataluña
L'HOSPITALET DE LLOBREGAT
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari de Bellvitge
Unidad de Genética Molecular
ESPAGNE
Madrid
MADRID
Identification of new genes causing rare diseases in pediatric patients, searching of genetic pharmacological targets, and drugs discovery, the steps for a personalized medicine
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en enfermedades raras, mitocondriales y neuromusculares
Projets de recherche multicentriques
- Cliniques universitaires Saint-Luc - UCLouvain
- Laboratory of Nephrology
- Azienda Ospedaliera Universitaria "Federico II"
- Laboratorio Dipartimento di Pediatria
- Istituto San Raffaele Telethon per la Terapia Genica - TIGET
- Istituto San Raffaele Telethon per la Terapia Genica
- John Radcliffe Hospital
- Department of Cardiovascular Medicine
- Oxford University Begbroke Science Park
- Zyoxel Limited
BELGIQUE
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
EUNEFRON: the European network for the study of orphan nephropathies
ITALIE
CAMPANIA
NAPOLI
EUCLYD: A European consortium for Lysosomal disorders (TERMINATED)
ITALIE
LOMBARDIA
MILANO
PERSIST: Persisting transgenesis (TERMINATED)
ROYAUME-UNI
Oxfordshire
OXFORD
BIG-HEART: bench-to-beside integrated approach to familial hypertrophic cardiomyopathy: to the heart of the disease (coordination)
ROYAUME-UNI
Oxfordshire
BEGBROKE