Patient registries in the field of rare diseases

7

http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

Orphanet Report Series - Disease Registries in Europe - January 2011

Belgian patient registry for rare bleeding disorders - 

contributes to the RBDD international registry

National

Academia

Belgian registry of primary immunodeficiencies - 

contributes to the ESID European registry

National

Academia

Belgian rituximab therapy registry for immune anemia and 

thrombocytopenia

National

Academia

Belgian severe chronic neutropenia patient registry - 

contributes to the SCN international registry (SCNIR)

National

Academia

Belgian sickle cell anemia registry

National

Academia

Belgian systemic sclerosis cohort

National

Academia

ENRAH: Belgian contribution to European registry for 

alternating hemiplegia in childhood

National

Academia

EUNEFRON: registry of the European network for the study 

of orphan nephropathies

European

Academia

EURECHINOREG: Belgian contribution to the European 

registry of human alveolar echinococcosis

National

Academia

Hainault and Namur registry of congenital anomalies - 

contributes to the EUROCAT network

Regional

Academia

LCH: Belgian Langerhans cell histiocytosis registry

National

Academia

Pediatric granulomatous arthritis international registry

Global

Academia

bg - bulgaRIa (4 registries)

ENglISh labEl of ThE aCTIVITy

CoVERagE

INSTITuTIoN

Bulgarian cystic fibrosis patient registry - contributes to 

the EUROCARE CF registry

National

Academia

Bulgarian registry of patients with thalassaemia

National

Academia

Duchenne and Becker muscular dystrophy and spinal 

muscular atrophy patient registries in Bulgaria - part of the 

TREAT-NMD network

National

Academia

The Bulgarian genetic registry of monogenic disorders

National

Academia

Ch - SWITZERlaND (9 registries)

ENglISh labEl of ThE aCTIVITy

CoVERagE

INSTITuTIoN

BH4: international patient registry of tetrahydrobiopterin 

deficiency

Global

Academia

Duchenne and Becker muscular dystrophy and spinal 

muscular dystrophy patient registries in Switzerland - 

contributes to the TREAT-NMD network

National

Academia

PFAPA Registry: Periodic fever aphtous stomatitis, 

pharyngitis and adenopathy patient registry

European

Academia

PNH Registry: Paroxysmal Nocturnal Hemoglobinuria 

registry

Global

Industry

SIOLD: Swiss registry for Interstitial and Orphan Lung 

Diseases

National

Academia

8

http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

Orphanet Report Series - Disease Registries in Europe - January 2011

Swiss alpha-1 antitrypsin deficiency registry - contributes 

to the Alpha One International Registry (AIR)

National

Academia

Swiss cystic fibrosis patient registry - contributes to the 

EUROCARE CF registry

National

Academia

Swiss registry of biliary atresia - contributes to the EBAR 

registry

National

Academia

Vaud registry of congenital anomalies - contributes to the 

EUROCAT network

Regional

Academia

Cy - CypRuS (1 registry)

ENglISh labEl of ThE aCTIVITy

CoVERagE

INSTITuTIoN

Cyprian cystic fibrosis patient registry - contributes to the 

EUROCARE CF registry

National

Academia

CZ - CZECh REpublIC (4 registries)

ENglISh labEl of ThE aCTIVITy

CoVERagE

INSTITuTIoN

Czech cystic fibrosis patient registry - contributes to the 

EUROCARE CF registry

National

Academia

Czech severe chronic neutropenia registry - contributes to 

the SCN international registry (SCNIR)

National

Academia

Duchenne and Becker muscular dystrophy patient registry 

in the Czech Republic and Slovakia - contributes to the 

TREAT-NMD network

National

Academia

Spinal muscular atrophy patient registry in the Czech 

Republic - part of the TREAT-NMD network

National

Academia

DE - gERMaNy (86 registries)

DE-ENglISh labEl of ThE aCTIVITy

CoVERagE

INSTITuTIoN

AID-NET : Clinical Registry and Biobank (DNA/RNA/serum) 

for autoinflammatory syndromes (children)

National

Academia

Ataxia-Telangiectasia patient registry - contributes to the 

ESID Database

National

Academia

Central Cutaneous Lymphoma Registry

National

Academia

Centre Saxony-Anhalt registry of congenital anomalies - 

contributes to the EUROCAT network

Regional

Academia

CMMR: Central Malignant Melanoma Registry in germany

National

Academia

CompERA-XL: International, prospective registry for the 

documentation of first-line and maintenance therapy in 

patients with pulmonary hypertension

European

Academia

Conn Registry: German registry of primary aldosteronism

National

Academia

CPT-SIOP-Registry : International Registry for Choroid 

Plexus Tumors

Global

Academia

CURE-Net : National registry for congenital uro-rectal 

malformations

National

Academia

9

http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

Orphanet Report Series - Disease Registries in Europe - January 2011

CWS-SoTiSaR: A registry for soft tissue sarcoma and other 

soft tissue tumours in children, adolescents, and young 

adults

European

Academia

DÖSAK tumor registry for documentation of tumors of the 

face and jaws in germany, austria and switzerland

European

Academia

Duchenne and Becker muscular dystrophy and spinal 

muscular atrophy patient registries in Austria and Germany 

- part of the TREAT-NMD network

National

Academia

EBAR: European Biliary Atresia Registry

European

Academia

EHDN: European Huntington's disease registry

European

Academia

EHDN: neuroacanthocytosis patient registry

Global

Academia

EKRS: Saarland Cancer Registry - contributes to the 

RARECARE Project

Regional

Academia

ENETS: European Neuroendocrine Tumour Registry

European

Academia

EPICURE-bank: European Epilepsy Brain Bank

European

Academia

ESID: European registry of primary immunodeficiencies

Global

Academia

EU-RHAB: European Rhabdoid Registry

European

Academia

EURIPFREG: European idiopathic pulmonary fibrosis registry

European

Academia

EURIPIDES: European Registry for ICD and CRT devices in 

pediatrics and adults with congenital heart disease

European

Academia

EUROFA: European Friedreich Ataxia Registry

European

Academia

European Alport registry

European

Academia

EUROSCA-R: European patient registry on spinocerebellar 

ataxias

European

Academia

EUTOS: European chronic myeloid leukemia patient registry 

(collaboration between the European LeukemiaNet and 

Novartis Europe)

European

Academia

GeNeMove: German database for wilson disease

National

Academia

German acromegaly registry

National

Academia

German adrenal tumors registry

National

Academia

German AID (Autoinflammatory disorders) registry 

-subproject AID-NET

National

Academia

German alpha-1 antitrypsin deficiency registry - 

contributes to the Alpha One International Registry (AIR)

National

Academia

German childhood cancer registry (Partner of ACCIS: 

Automated Childhood Cancer Information System)

National

Academia

German cystic fibrosis registry - contributes to the 

EUROCARE CF registry

National

Academia

German Epilepsy Registry

National

Academia

German Fanconi anemia registry

National

Academia

German gastrointestinal stromal tumor registry

National

Academia

German Haemophilia Registry (DHR)

National

Academia

German mucopolysaccharidosis patient registry

National

Academia

German multiple endocrine neoplasia type 1 (MEN 1) 

registry

National

Academia

German national case collection of familial pancreatic 

cancer

National

Academia

German paroxysmal nocturnal hemoglobinuria registry

National

Academia

10

http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

Orphanet Report Series - Disease Registries in Europe - January 2011

German pituitary tumors registry

National

Academia

German registry for congenital heart defects - part of the 

competence network for congenital heart defects

National

Academia

German registry for congenital thrombocytopenia

National

Academia

German registry for Morbus Adamantiades-Behçet e.V.

National

Academia

German registry for papulosis atrophicans maligna

National

Academia

German registry for patients with pulmonary hypertension

National

Academia

German registry of congenital dyserythropoietic anemias 

(CDA)

National

Academia

German severe chronic neutropenia registry - contributes 

to the SCN international registry (SCNIR)

National

Academia

German vasculitis registry

National

Academia

GMALL-registry and biobank: registry for adult patients 

with acute lymphoblastic leukemia or related diseases

National

Academia

GOLD.net : Registry and biobank for Diffus Parenchymal 

Lung Disease

National

Academia

HepNet: German hepatocellular carcinoma (HCC) registry

National

Academia

International pheochromocytoma and paraganglioma 

registry

Global

Academia

INVM (Isolated Noncompaction of Ventricular Myocardium) 

registry

National

Academia

KINDLERNET: Central patient registry Kindler syndrome

European

Academia

LCH: German Langerhans cell histiocystosis registry

National

Academia

Lupus nephritis registry (established by the german 

paediatric nephrology association)

National

Academia

Mainz registry of congenital anomalies - contributes to the 

EUROCAT network

Regional

Academia

MAISTHRO-Registry : multicentric thrombophilia registry 

(MAIn-ISar-THROmbose-Register)

National

Academia

MDS: German myelodysplastic syndromes patient registry

National

Academia

MEFOPA: registry for patients with rare Mendelian forms of 

Parkinson's Disease

European

Academia

National FKRP-patient registry germany - part of the TREAT-

NMD network

National

Academia

National nephrogenic systemic fibrosis registry

National

Academia

National PSHN registry (german society for paediatric 

nephrology GPN)

National

Academia

National registry for Blackfan-Diamond disease

National

Academia

NCL-Registry: International neuronal ceroid lipofuscinoses 

patient registry

European

Academia

NET-Registry: German neuroendocrine gastrointestinal 

tumors

National

Academia

Neuromyelitis optica patient registry

National

Academia

NIRK: national central registry for ichthyoses and related 

keratinization disorders

National

Academia

NIRK: patient registry for autosomal recessive congenital 

ichthyosis

National

Academia

NKR: German registry for adrenocortical carcinoma

National

Academia

11

http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

Orphanet Report Series - Disease Registries in Europe - January 2011

Patient registry for primary hyperoxaluria

National

Academia

Patient registry of the German Network for Systemic 

Scleroderma

National

Academia

PID-NET: National registry of primary immunodeficiencies

National

Academia

PODONET: Registry for Steroid-Resistant Nephrotic 

Syndrome (SRNS) patients

European

Academia

RAMEDIS : Rare Metabolic Diseases Database

National

Academia

RegiSCAR: European registry of severe cutaneous adverse 

reactions (SCAR) to drugs and collection of biological 

samples

European

Academia

Registry for children with congenital limb malformations

National

Academia

Registry for congenital melanocytic nevi and 

neurocutaneous melanocytosis

National

Academia

Registry for Merkel Cell Carcinoma

National

Academia

Registry for patients with mitochondrial diseases 

(mitoREGISTER) - subproject of mitoNET

National

Academia

Registry for Patients with WT1 Mutation Associated 

Diseases

National

Academia

RetDis Database (blood or DNA samples and associated 

clinical descriptions of patients and families with inherited 

eye diseases)

European

Academia

STER: FVII deficiency treatment international registry

Global

Academia

Von Hippel-Lindau registry

Regional

Academia

DK - DENMaRK (4 registries)

ENglISh labEl of ThE aCTIVITy

CoVERagE

INSTITuTIoN

Danish cystic fibrosis patient registry - contributes to the 

EUROCARE CF registry

National

Academia

Danish malignant hyperthermia registry - contributes to 

the European Malignant Hyperthermia Group (EMHG)

National

Academia

Funen county registry of congenital anomalies - 

contributes to the EUROCAT network

Regional

Academia

Mendelian cytogenetics network online database

National

Academia

EE - ESToNIa (2 registries)

ENglISh labEl of ThE aCTIVITy

CoVERagE

INSTITuTIoN

Estonian cancer registry - contributes to the RARECARE 

project

National

Academia

Estonian cystic fibrosis patient registry - contributes to the 

EUROCARE CF registry

National

Academia

12

http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

Orphanet Report Series - Disease Registries in Europe - January 2011

ES - SpaIN (32 registries)

ENglISh labEl of ThE aCTIVITy

CoVERagE

INSTITuTIoN

Asturias registry of congenital anomalies - contributes to 

the EUROCAT network

Regional

Academia

Barcelona birth defects registry - contributes to the 

EUROCAT network

Regional

Academia

Budd-Chiari syndrome (BCS) and hepatic vascular diseases 

registry

National

Academia

ERCUSYN: European registry on Cushing's syndrome

European

Academia

EUGINDAT-PIADATABASE: European primary inherited 

aminoacidurias database

European

Academia

GIRMOGEN_PRO Database: mental retardation with genetics 

etiology registry in Spain

National

Academia

MOLDIAG-PACA: patient registry of pancreatic cancer

European

Academia

REA: Acromegaly Spanish registry

National

Academia

RECOMINA: patient registry of microscopic colitis and study 

of the environmental risk factors

National

Academia

REDIP: Spanish registry of primary immunodeficiencies - 

contributes to the ESID European registry

National

Academia

Registry for rare disorders in Extremadura (Spain)

Regional

Academia

Registry of congenital anomalies of the Basque Country 

(Spain) - contributes to the EUROCAT network

Regional

Academia

REHAP: Spanish Registry of Pulmonary Arterial 

Hypertension

National

Academia

RETEGEP: Spanish Registry of Gastroenteropancreatic 

Endocrine Tumors

National

Academia

Spanish alpha-1 antitrypsin deficiency registry (REDAAT) - 

contributes to the Alpha One International Registry (AIR)

National

Academia

Spanish cystic fibrosis patient registry - contributes to the 

EUROCARE CF registry

National

Academia

Spanish Familial Adenomatous Polyposis Registry

National

Academia

Spanish Gaucher's disease registry

National

Academia

Spanish Overgrowth Syndrome Registry

National

Academia

Spanish patient registry for spinal muscular atrophy - part 

of the TREAT-NMD network

National

Academia

Spanish patient registry of hereditary angioedema

National

Academia

Spanish patient registry of hereditary retinal dystrophy

National

Academia

Spanish patient registry of myelodysplasic syndromes

National

Academia

Spanish patient registry of rare diseases: multiple 

endocrine neoplasia, acromegaly and enteropancreatic 

endocrine tumors.

National

Academia

Spanish patient registry of transmissible spongiform 

encephalopathies

National

Academia

Spanish registry of Duchenne muscular dystrophy - part of 

the TREAT-NMD network

National

Academia

Spanish registry of metabolic hereditary diseases

National

Academia

Spanish registry of patients with fragile X syndrome

National

Academia

13

http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

Orphanet Report Series - Disease Registries in Europe - January 2011

Spanish registry of POEMS syndrome patients 

(Osteosclerotic myeloma)

National

Academia

Spanish Registry of Rare Diseases

National

Academia

Spanish registry of renal hereditary diseases

National

Academia

Spanish severe chronic neutropenia registry - contributes 

to the SCN international registry (SCNIR)

National

Academia

fI - fINlaND (5 registries)

ENglISh labEl of ThE aCTIVITy

CoVERagE

INSTITuTIoN

Duchenne and Becker muscular dystrophy and spinal 

muscular dystrophy patient registries in Finland - 

contributes to the TREAT-NMD network

National

Patient organisation

Finnish cancer registry - contributes to the RARECARE 

project

National

Patient organisation

Finnish patient registry on Fabry disease

National

Academia

Finnish registry of congenital anomalies - contributes to 

the EUROCAT network

National

Academia

The Finnish registry of visual impairment

National

Academia

fR - fRaNCE (122 registries)

ENglISh labEl of ThE aCTIVITy

CoVERagE

INSTITuTIoN

Aquitaine registry of mesothelioma

Regional

Academia

Auvergne registry of congenital anomalies - contributes to 

the EUROCAT network

Regional

Academia

Bas-Rhin registry of congenital anomalies - contributes to 

the EUROCAT network

Regional

Academia

Basse Normandie registry of hematological malignancies

Regional

Academia

BLAU registry: French pediatric granulomatous arthritis 

registry

National

Academia

Breast and other gynecological cancers registry of Côte-d'Or Regional

Academia

CEREDIH: French primary immunodeficiencies registry

National

Academia

CoF-AT study: a French cohort on ataxia-telangiectasia

National

Academia

Cohort of patients affected by Marfan or related syndrome

National

Academia

Cohort of patients with hereditary dystrophies of retina

Not defined

Academia

Côte d'Or registry of hematological malignancies

Regional

Academia

Cystadane post marketing registry of patient with 

homocystinuria

European

Industry

D[4]/Phenodent: French registry of patients affected by 

rare odontologic diseases

National

Academia

Duchenne and Becker muscular dystrophy patient registry 

in France - part of the TREAT-NMD network

National

Academia

EDMUS - NOMADMUS: French cohort and biobank of Devic's 

neuromyelitis optica and related neurological disorders

National

Academia

EDMUS: European Database for Multiple Sclerosis and other 

related diseases

European

Academia