Patient registries in the field of rare diseases
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- Bu səhifədəki naviqasiya:
- MK - REpublIC of MaCEDoNIa (1 registry) ENglISh labEl of ThE aCTIVITy CoVERagE INSTITuTIoN
- MT - MalTa (1 registry) ENglISh labEl of ThE aCTIVITy CoVERagE INSTITuTIoN
- No - NoRWay (4 registries) ENglISh labEl of ThE aCTIVITy CoVERagE INSTITuTIoN
- Ro - RoMaNIa (2 registries) ENglISh labEl of ThE aCTIVITy CoVERagE INSTITuTIoN
- RS - SERbIa (4 registries) ENglISh labEl of ThE aCTIVITy CoVERagE INSTITuTIoN
- SE - SWEDEN (18 registries) ENglISh labEl of ThE aCTIVITy CoVERagE INSTITuTIoN
- SI - SloVENIa (2 registries) ENglISh labEl of ThE aCTIVITy CoVERagE INSTITuTIoN
- SK - SloVaKIa (2 registries) ENglISh labEl of ThE aCTIVITy CoVERagE INSTITuTIoN
- TR - TuRKEy (4 registries) ENglISh labEl of ThE aCTIVITy CoVERagE INSTITuTIoN
- European registries EuRopEaN REgISTRIES (50 registries) ENglISh labEl of ThE aCTIVITy CooRDINaTIoN INSTITuTIoN
- International registries INTERNaTIoNal REgISTRIES (29 registries) ENglISh labEl of ThE aCTIVITy CooRDINaTIoN INSTITuTIoN
- Network registries NETWoRK REgISTRIES (9 registries) ENglISh labEl of ThE aCTIVITy CooRDINaTIoN CoVERagE
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INSTITuTIoN Latvian cystic fibrosis patient registry - contributes to the EUROCARE CF registry National
Academia 21 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf Orphanet Report Series - Disease Registries in Europe - January 2011 MK - REpublIC of MaCEDoNIa (1 registry) ENglISh labEl of ThE aCTIVITy CoVERagE INSTITuTIoN Macedonian cystic fibrosis patient registry - contributes to the EUROCARE CF registry National
Academia MT - MalTa (1 registry) ENglISh labEl of ThE aCTIVITy CoVERagE INSTITuTIoN Maltese cancer registry - contributes to the RARECARE project National
Academia Nl - NEThERlaNDS (15 registries) ENglISh labEl of ThE aCTIVITy CoVERagE INSTITuTIoN CONCOR: Dutch registry of patients with a congenital heart malformation National
Academia Duchenne and Becker muscular dystrophy patient registry in the Netherlands - part of the TREAT-NMD network National
Academia Dutch alpha-1 antitrypsin deficiency registry - contributes to the Alpha One International Registry (AIR) National
Academia Dutch cystic fibrosis patient registry - contributes to the EUROCARE CF registry National
Academia Dutch severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR) National
Academia ECARUCA: cytogenetic and clinical database on rare chromosomal disorders European
Academia EPCOT: European prospective cohort on thrombophilia European Academia
Nephrotic syndrome registry Global
Academia North Netherlands registry of congenital anomalies - contributes to the EUROCAT network Regional
Academia PAN research: Prospective amyotrophic lateral sclerosis (ALS) study Netherlands National
Academia The intenational Pompe registry Global Industry
The International Collaborative Gaucher Group (ICGG) Gaucher registry Global Industry
The international Fabry registry Global
Industry The international Mps I registry Global Industry
X-ALD: X-linked adrenoleukodystrophy database European
Academia No - NoRWay (4 registries) ENglISh labEl of ThE aCTIVITy CoVERagE INSTITuTIoN EURADRENAL: European patient registry on autoimmune Addison's disease (sera, DNA and RNA) European
Academia Norwegian cancer registry - contributes to the RARECARE project National
Academia 22 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf Orphanet Report Series - Disease Registries in Europe - January 2011 Norwegian cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Academia
Norwegian severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR) National Academia
pl - polaND (9 registries) ENglISh labEl of ThE aCTIVITy CoVERagE INSTITuTIoN Cracow cancer registry - contributes to the RARECARE project Regional
Academia Duchenne and Becker muscular dystrophy and spinal muscular dystrophy patient registries in Poland - contributes to the TREAT-NMD network National Academia
Kielce cancer registry - contributes to the RARECARE project
Regional Academia
Polish cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Academia
Polish registry of primary immunodeficiencies - contributes to the ESID European registry National Academia
Polish severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR) National Academia
Polish Silver-Russell syndrome patient registry National
Academia PRCM: Polish registry of congenital malformations - contributes to the EUROCAT network National
Academia Warsaw cancer registry - contributes to the RARECARE project Regional
Academia pT - poRTugal (9 registries) ENglISh labEl of ThE aCTIVITy CoVERagE INSTITuTIoN Duchenne and Becker muscular dystrophy patient registry in Portugal - contributes to the TREAT-NMD network National
Academia Portugues centre for study and registry of congenital anomalies (CERAC) - contributes to the EUROCAT network National
Academia Portuguese cystic fibrosis patient registry - contributes to the EUROCARE CF registry National
Academia Portuguese Fabry registry National Academia
Portuguese registry of biliary atresia - contributes to the EBAR registry National Academia
Portuguese registry of primary immunodeficiency diseases (REPORID) National Academia
Portuguese Rett syndrome registry National
Academia Portuguese severe chronic neutropenia patient registry - contributes to the SCN international registry (SCNIR) National
Academia Southern Portugal cancer registry - contributes to the RARECARE project Regional
Academia 23 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf Orphanet Report Series - Disease Registries in Europe - January 2011 Ro - RoMaNIa (2 registries) ENglISh labEl of ThE aCTIVITy CoVERagE INSTITuTIoN Romanian biliary atresia registry National Academia
Romanian cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Academia
RS - SERbIa (4 registries) ENglISh labEl of ThE aCTIVITy CoVERagE INSTITuTIoN Serbian cystic fibrosis patient registry - contributes to the EUROCARE CF registry National
Academia Serbian registry of hemophilia and von Willebrand disease patients National
Academia Serbian registry of patients with rare bleeding disorders - contributes to the RBDD international registry National
Academia Serbian severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR) National
Academia SE - SWEDEN (18 registries) ENglISh labEl of ThE aCTIVITy CoVERagE INSTITuTIoN FOS : Fabry Outcome Survey Global Industry
HOS : Hunter Outcome Survey Global
Industry IOS : Icatibant Outcome Survey for hereditory angioedema Global Industry
National registry on bronchopulmonary dysplasia National
Academia SPAHR: Swedish Pulmonary Arterial Hypertension Registry National Academia
SWEDCON: Swedish Registry of Congenital Heart Disease National
Academia Swedish Acute Lymphoblastic Leukemia Registry National Academia
Swedish Acute Myelogenous Leukemia Registry National
Academia Swedish alpha-1 antitrypsin deficiency registry - contributes to the Alpha One International Registry (AIR) National
Academia Swedish Childhood Cancer Registry National Academia
Swedish Chronic Myeloid Leukemia Registry National
Academia Swedish cystic fibrosis patient registry - contributes to the EUROCARE CF registry National
Academia Swedish database on Usher syndrome National Academia
Swedish Multiple Myeloma Registry National
Academia Swedish Polyposis Registry National Academia
Swedish Registry for Familial Amyloid Polyneuropathy National
Academia Swedish severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR) National
Academia SWEDROP: Swedish Registry for Retinopathy of Prematurity National Academia
24 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf Orphanet Report Series - Disease Registries in Europe - January 2011 SI - SloVENIa (2 registries) ENglISh labEl of ThE aCTIVITy CoVERagE INSTITuTIoN Slovenian cancer registry - contributes to the RARECARE project National
Academia Slovenian cystic fibrosis patient registry - contributes to the EUROCARE CF registry National
Academia SK - SloVaKIa (2 registries) ENglISh labEl of ThE aCTIVITy CoVERagE INSTITuTIoN Slovakian cancer registry - contributes to the RARECARE project National
Academia Slovakian cystic fibrosis patient registry - contributes to the EUROCARE CF registry National
Academia TR - TuRKEy (4 registries) ENglISh labEl of ThE aCTIVITy CoVERagE INSTITuTIoN Database setup for the visualisation and examination of oral ulcers in Behcet disease patients National
Academia Duchenne and Becker muscular dystrophy and spinal muscular dystrophy patient registries in Turkey - contributes to the TREAT-NMD network National Academia
Turkish cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Academia
Turkish severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR) National Academia
ua - uKRaINE (1 registry) ENglISh labEl of ThE aCTIVITy CoVERagE INSTITuTIoN Spinal muscular atrophy patient registry in Ukraine - part of the TREAT-NMD network National
Academia uK - uNITED KINgDoM (58 registries) ENglISh labEl of ThE aCTIVITy CoVERagE INSTITuTIoN AOMIC: adult onset myositis immunogenetic collaboration National Academia
BPOLD: British Paediatric Orphan Lung Disease Registry National
Academia CARIS - Welsh registry of congenital anomalies - part of BINOCAR and EUROCAT network Regional
Academia CAROBB - congenital anomalies registry for Oxfordshire, Berkshire & Buckinghamshire - part of the BINOCAR and EUROCAT network Regional Academia
25 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf Orphanet Report Series - Disease Registries in Europe - January 2011 CRANE: database of patients with cleft lip and/or cleft palate in England and Wales National Academia
Duchenne and Becker muscular dystrophy patient registry in United Kingdom and Ireland - part of the TREAT-NMD network National
Patient organisation EBV associated NK/T cell diseases registry National Academia
EHDN: registry of juvenile Huntington's disease Global
Academia EMSYCAR - East Midlands & South Yorkshire congenital anomalies registry - part of BINOCAR and EUROCAT network Regional
Academia English alpha-1 antitrypsin deficiency registry - contributes to the Alpha One International Registry (AIR) National
Academia English and Irish Fanconi anemia registry National Academia
English central hypoventilation syndrome registry - will contribute to the European CHS National Academia
English cystic fibrosis database National
Academia English cystic fibrosis patient registry - contributes to the EUROCARE CF and ECFS registries National
Academia English cystinosis registry National Academia
English dyskeratosis congenita registry National
Academia English Gaucher registry National Academia
English hereditary angioedema patient registry - part of the HAE European registry National Academia
English hyperoxaluria registry National
Academia English juvenile dermatomyositis registry and repository National Academia
English mucopolysaccharidosis registry National
Patient organisation English phenylketonuria registry National Academia
English registry for lymphangioleiomyomatosis National
Academia English registry of biliary atresia - contributes to the EBAR registry National
Academia English registry of primary immunodeficiencies - contributes to the ESID European registry National
Academia English registry of syndromes with abnormal vertebral segmentation National
Academia English registry of Wolf-Hirschhorn syndrome National Academia
English severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR) National Academia
EUHASS: European haemophilia safety surveillance - pharmacovigilance program monitoring the safety of treatments for people with inherited bleeding disorders in Europe
European Academia
EUMDS: European Registry for Myelodysplastic Syndromes - part of EuroLeukemiaNet (ELN) European Academia
EURODSD: European disorders of sexual development registry
European Academia
EUROPAC: the European registry of hereditary pancreatitis and familial pancreatic cancer European Academia
European Prader-Willi syndrome database European
Academia 26 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf Orphanet Report Series - Disease Registries in Europe - January 2011 EUROWILSON: European clinical database for Wilson disease
European Academia
Glasgow registry of congenital anomalies - part of BINOCAR and EUROCAT network Regional Academia
LCH: English Langerhans cell histiocytosis registry National
Academia Merseyside and Cheshire registry of congenital anomalies -part of BINOCAR and EUROCAT network Regional
Academia Myotonic dystrophy patient registry in United Kingdom - part of the TREAT-NMD network National
Academia National Congenital Anomaly System (NCAS) - part of BINOCAR and EUROCAT network Regional
Academia NDSCR - National Down syndrome cytogenetic registry - part of BINOCAR and EUROCAT network National
Academia NHD: the national haemophilia database National Academia
NHR: National Haemoglobinopathy Registry National
Academia NorCAS - Northern registry of congenital anomalies - part of BINOCAR and EUROCAT network Regional
Academia Regional spinocerebellar ataxia registry Regional Academia
SCAR - Scottish registry of congenital anomalies - part of BINOCAR and EUROCAT network Regional Academia
Spinal muscular atrophy patient registry in United Kingdom and Ireland - part of the TREAT-NMD network National Academia
Spinocerebellar ataxia type 1 registry National
Academia SWCAR - South West congenital anomalies registry - part of BINOCAR and EUROCAT network Regional
Academia The regional paediatric cardiology database Regional Academia
UK Paediatric ITP (Immune Thrombocytopenic Purpura) Registry
National Academia
UK renal rare disease registry National
Academia UKAITPR: United Kingdom adult idiopathic thrombocytopenic purpura registry National
Academia UKCCCR: English familial ovarian cancer patient registry National Academia
UKESR: United Kingdom Evans Syndrome Registry National
Academia UKFITPR: United Kingdom familial idiopathic thrombocytopenic purpura (ITP) Registry National
Academia United Kingdom neuromyelitis optica registry National Academia
WANDA - Wessex registry of antenatally detected anomalies - part of BINOCAR and EUROCAT network Regional Academia
West Midlands registry of congenital anomalies - part of BINOCAR and EUROCAT network Regional Academia
27 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf Orphanet Report Series - Disease Registries in Europe - January 2011 uS - uNITED STaTES (6 registries) ENglISh labEl of ThE aCTIVITy CoVERagE INSTITuTIoN CMDIR: congenital muscular dystrophy international registry Global
Academia International Friedreich Ataxia Research Alliance (FARA) registry Global
Patient organisation International Morquio A registry Global Patient organisation International Rare Genetic Steroid Disorders Consortium (RGSDC) registry Global Academia
International registry for primary hyperoxaluria Global
Academia THAOS: transthyretin amyloidosis outcomes survey Global Industry
28 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf Orphanet Report Series - Disease Registries in Europe - January 2011 European registries EuRopEaN REgISTRIES (50 registries) ENglISh labEl of ThE aCTIVITy CooRDINaTIoN INSTITuTIoN EMSA-SG: central patient registry of the European multiple system atrophy network AT Academia ENRAH: European alternating hemiplegia and rare epilepsies registry in childhood AT Academia
EUNEFRON: registry of the European network for the study of orphan nephropathies BE Academia
PFAPA Registry: Periodic fever aphtous stomatitis, pharyngitis and adenopathy patient registry CH Academia
CompERA-XL: International, prospective registry for the documentation of first-line and maintenance therapy in patients with pulmonary hypertension DE Academia CWS-SoTiSaR: A registry for soft tissue sarcoma and other soft tissue tumours in children, adolescents, and young adults DE
DÖSAK tumor registry for documentation of tumors of the face and jaws in germany, austria and switzerland DE Academia
EBAR: European Biliary Atresia Registry DE Academia EHDN: European Huntington's disease registry DE Academia ENETS: European Neuroendocrine Tumour Registry DE Academia EPICURE-bank: European Epilepsy Brain Bank DE Academia EU-RHAB: European Rhabdoid Registry DE Academia EURIPFREG: European idiopathic pulmonary fibrosis registry DE Academia EURIPIDES: European Registry for ICD and CRT devices in pediatrics and adults with congenital heart disease DE Academia
EUROFA: European Friedreich Ataxia Registry DE Academia European Alport registry DE Academia EUROSCA-R: European patient registry on spinocerebellar ataxias
DE Academia
EUTOS: European chronic myeloid leukemia patient registry (collaboration between the European LeukemiaNet and Novartis Europe) DE Academia KINDLERNET: Central patient registry Kindler syndrome DE Academia MEFOPA: registry for patients with rare Mendelian forms of Parkinson's Disease DE Academia
NCL-Registry: International neuronal ceroid lipofuscinoses patient registry DE Academia
PODONET: Registry for Steroid-Resistant Nephrotic Syndrome (SRNS) patients DE Academia
RegiSCAR: European registry of severe cutaneous adverse reactions (SCAR) to drugs and collection of biological samples DE
29 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf Orphanet Report Series - Disease Registries in Europe - January 2011 RetDis Database (blood or DNA samples and associated clinical descriptions of patients and families with inherited eye diseases) DE Academia ERCUSYN: European registry on Cushing's syndrome ES Academia EUGINDAT-PIADATABASE: European primary inherited aminoacidurias database ES Academia
MOLDIAG-PACA: patient registry of pancreatic cancer ES Academia Cystadane post marketing registry of patient with homocystinuria FR Industry
EHN - EURO-HISTIO-NET: European registry of Langerhans Cell Histiocytosis FR Academia
EPI-EPNET: European hepatic and erythropoietic porphyrias registry
FR Academia
Escort-Hu: European sickle cell disease cohort- hydroxyurea FR Industry EU-CHS: European central hypoventilation syndrome registry FR Academia EURECHINOREG: European registry of alveolar echinococcosis FR Academia European prospective registry of children born to mothers affected by the antiphospholipids syndrome FR Academia
EUROTRAPS: European patient registry on TRAPS syndrome FR Academia INFEVERS: European registry of mutations involved in familial mediterranean fever (FMF) and hereditary autoinflammatory disorders FR Academia VALID: cohort creation on Budd-Chiari syndrome, hepatic venooclusive disease, hepatoportal sclerosis and portal vein thrombosis FR Academia Vedrop registry of chronic cholestasis patient with vitamin E deficiency FR Industry
EUHASS: European haemophilia safety surveillance - pharmacovigilance program monitoring the safety of treatments for people with inherited bleeding disorders in Europe
GB Academia
EUMDS: European Registry for Myelodysplastic Syndromes - part of EuroLeukemiaNet (ELN) GB (+ IT) Academia
EURODSD: European disorders of sexual development registry GB Academia EUROPAC: the European registry of hereditary pancreatitis and familial pancreatic cancer GB Academia
European Prader-Willi syndrome database GB Academia EUROWILSON: European clinical database for Wilson disease GB Academia European registry of congenital dyserythropoietic anemia IT Academia HAE-registry: European hereditary angioedema patient registry
IT Academia
ECARUCA: cytogenetic and clinical database on rare chromosomal disorders NL Academia
EPCOT: European prospective cohort on thrombophilia NL Academia X-ALD: X-linked adrenoleukodystrophy database NL Academia EURADRENAL: European patient registry on autoimmune Addison's disease (sera, DNA and RNA) NO Academia
EURADRENAL: European patient registry and biobank on autoimmune Addison's disease NO Academic
30 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf Orphanet Report Series - Disease Registries in Europe - January 2011 International registries INTERNaTIoNal REgISTRIES (29 registries) ENglISh labEl of ThE aCTIVITy CooRDINaTIoN INSTITuTIoN Pediatric granulomatous arthritis international registry BE Academia
BH4: international patient registry of tetrahydrobiopterin deficiency CH Academia
PNH Registry: Paroxysmal Nocturnal Hemoglobinuria registry CH Industry CPT-SIOP-Registry : International Registry for Choroid Plexus Tumors
DE Academia
EHDN: neuroacanthocytosis patient registry DE Academia ESID: European registry of primary immunodeficiencies DE Academia International pheochromocytoma and paraganglioma registry DE Academia STER: FVII deficiency treatment international registry DE Academia International FKRP (Fukutin-Related Protein) defects registry - part of TREAT-NMD network FR Academia
EHDN: registry of juvenile Huntington's disease GB Academia EUROFEVER: European registry for autoinflammatory diseases IT Academia International registry of bone fragility fractures in the young IT Academia International Registry of Rare Bleeding Disorders (RBDD) IT Academia International registry of recurrent and familial hemolytic uremic syndrome / thrombotic thrombocytopenic purpura IT Academia
International registry on thrombotic thrombocytopenic purpura (TTP) IT Academia
Nephrotic syndrome registry NL Academia The intenational Pompe registry NL Industry The International Collaborative Gaucher Group (ICGG) Gaucher registry NL Industry
The international Fabry registry NL Industry The international Mps I registry NL Industry FOS : Fabry Outcome Survey SE Industry HOS : Hunter Outcome Survey SE Industry IOS : Icatibant Outcome Survey for hereditory angioedema SE Industry CMDIR: congenital muscular dystrophy international registry US Academia International Friedreich Ataxia Research Alliance (FARA) registry
US Patient organisation International Morquio A registry US Patient organisation International Rare Genetic Steroid Disorders Consortium (RGSDC) registry US Academia
International registry for primary hyperoxaluria US Academia THAOS: transthyretin amyloidosis outcomes survey US Industry Editor-in-chief: Ségolène Aymé Editor of the report: Nicolas Doulet Visual design : Céline Angin Photography : Patrice Latron / Inserm The correct form when quoting this document is: « Disease Registries in Europe », Orphanet Report Series, Rare Diseases collection, January 2011 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf
31 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf Orphanet Report Series - Disease Registries in Europe - January 2011 Network registries NETWoRK REgISTRIES (9 registries) ENglISh labEl of ThE aCTIVITy CooRDINaTIoN CoVERagE SCNIR: severe chronic neutropenia international registry DE Global
EU-CHS: European central hypoventilation syndrome registry
FR European
HAE-registry: European hereditary angioedema patient registry
IT European
RARECARE: surveillance of rare cancers in Europe IT European PAAIR: Patient's Association and Alpha-1 International Registry network NL Global
BINOCAR: British Isles network of congenital anomaly registries UK National
ECFS: European Cystic Fibrosis Society patient registry UK European EUROCAT: European surveillance of congenital anomalies UK European TREAT-NMD: Accelerating Treatments for Neuromuscular Diseases (registries) UK European
Editor-in-chief: Ségolène Aymé Editor of the report: Nicolas Doulet Visual design : Céline Angin Photography : Patrice Latron / Inserm The correct form when quoting this document is: « Disease Registries in Europe », Orphanet Report Series, Rare Diseases collection, January 2011 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf For any questions or comments, please contact us: contact.orphanet@inserm.fr Yüklə 0,55 Mb. Dostları ilə paylaş:
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