Patient registries in the field of rare diseases



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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

Academia



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

Academia



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



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