Patient registries in the field of rare diseases

14

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

Orphanet Report Series - Disease Registries in Europe - January 2011

EHN - EURO-HISTIO-NET: European registry of Langerhans 

Cell Histiocytosis

European

Academia

ENET Registry: European Neuro-Endocrine Tumors Group

National

Academia

EPI-EPNET: European hepatic and erythropoietic porphyrias 

registry

European

Academia

EPIMAD: registry of chronic inflammatory intestine 

diseases in North-West

Regional

Academia

Escort-Hu: European sickle cell disease cohort- hydroxyurea

European

Industry

Establishment of children and adolescents cohort in Behcet 

disease in France

National

Academia

EURECHINOREG: European registry of alveolar 

echinococcosis

European

Academia

European prospective registry of children born to mothers 

affected by the antiphospholipids syndrome

European

Academia

EUROTRAPS: European patient registry on TRAPS syndrome

European

Academia

FranceCoag: French prospective cohort of patients affected 

with haemophilia or severe form of other hereditary 

hemorrhagic diseases except platelet disorders

National

Academia

French acromegaly registry

National

Academia

French addictive acute intoxications cohort

National

Academia

French amyotrophic lateral sclerosis patient registry

National

Academia

French atypical sarcoïdosis clinical forms registry

National

Academia

French auto-immunity and Rituximab (AIR) registry: 

prospective study of patients treated with Rituximab

National

Academia

French bradykinic idiopathic angioneurotic edema and 

oestrogen-sensitive registry

National

Academia

French central hypoventilation syndrome registry - will 

contribute to the European CHS registry

National

Academia

French certified patient registry for Langerhans cell 

histiocytosis and biological collection

National

Academia

French certified registry of glycogen storage disease type 2

National

Academia

French certified registry of patients affected by Gaucher 

disease

National

Academia

French certified registry of patients affected by thalassemia National

Academia

French cohort creation in retinitis pigmentosa

National

Academia

French cohort for auto-inflammatory diseases

National

Academia

French cohort in genetic microcephalies

National

Academia

French cohort in primary ciliary dyskinesia

National

Academia

French cohort of acquired autoimmune haemolytic anemia

National

Academia

French cohort of Castleman's disease

National

Academia

French cohort of common variable immunodeficiency with 

hypogammaglobulinemia in adults (CVID)

National

Academia

French cohort of focal dystonia famillies

National

Academia

French cohort of idiopathic pulmonary fibrosis

National

Academia

French cohort of inflammatory bowel disease (IBD)

National

Academia

French cohort of rare diabetes (monogenic forms and 

syndromic forms)

National

Academia

French cohort of rhombencephalosynapsis

National

Academia

15

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

Orphanet Report Series - Disease Registries in Europe - January 2011

French cohort of Usher syndrome

National

Academia

French Cohorts in Sneddon syndrome and suspected 

Sneddon syndrome livedo

National

Academia

French constitutive hematologic diseases registry

National

Academia

French cystic fibrosis cohort

National

Academia

French cystic fibrosis patient registry

National

Patient organisation

French cystinosis registry

National

Academia

French epidemiological registry of esophageal atresia

National

Academia

French familial cardiac malformations registry

National

Academia

French observatory of biliary atresia

National

Academia

French observatory of gastric linitis plastica

National

Academia

French observatory of primary biliary cirrhosis

National

Academia

French observatory of primitive sclerosing cholangitis

National

Academia

French patient registry affected by genetic deafness in 

France

National

Academia

French Patient registry in chorioretinopathy, birdshot type

National

Academia

French pediatric registry of rituximab treated patients 

affected by severe systemic diseases - contributes to the 

French AIR registry

National

Academia

French prospective cohort of childhood care for 

autoimmune haemolytic anemia and Evans syndrome

National

Academia

French prospective follow-up cohort of child affected by 

autoimmune haemolytic anemia (AHAI), Evans syndrome 

and thrombocytopenic autoimmune purpura (ATP)

National

Academia

French registry for capillary leak syndromes

National

Academia

French registry for macrophagic myofasciitis

National

Academia

French registry for right arrythmogenic ventricular 

dysplasia (ARVC/D)

National

Academia

French registry of autosomal recessive polycystic kidney 

disease

National

Academia

French registry of cases of spontaneous periodic 

hypothermia

National

Academia

French registry of child handicap and perinatal observatory

National

Academia

French registry of child hematological malignancies

National

Academia

French registry of child hemolytic uremic syndrome

National

Academia

French registry of children solid tumors

National

Academia

French registry of corticosteroid-sensitive aseptic abscess

National

Academia

French registry of familial and premature prostate cancers 

(before 50 years)

National

Academia

French registry of generalized resistance to thyroid 

hormone

National

Academia

French registry of hereditary dyslipidemia in children: 

familial combined dyslipidemias

National

Academia

French registry of Iron overload genetic rare diseases, non-

related to the HFE gene

National

Academia

French registry of Kabuki syndrome

National

Academia

16

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

Orphanet Report Series - Disease Registries in Europe - January 2011

French registry of Marshall's syndrome with periodic fever

National

Academia

French registry of neuromuscular diseases from reference 

centres

National

Academia

French registry of patients affect by Leber amaurosis and 

retinitis pigmentosa to assess the clinical trial in gene 

therapy

National

Academia

French registry of pregnant women carriers of anti-SSA 

antibodies

National

Academia

French registry of rare genetic metabolism disorders of 

steroids - contributing to the international RGSDC registry

National

Academia

French registry of rare hypersomnias

National

Academia

French registry of rare pulmonary hypertension (HTAP)

National

Academia

French registry of tetrahydrobiopterin deficiencies

National

Academia

French severe chronic neutropenia certified patient registry 

- contributes to the SCN international registry (SCNIR)

National

Academia

French sickle cell anemia registry

National

Academia

French Still disease patient registry

National

Academia

French Williams syndrome cohort

National

Academia

FROG: FRench Observatory on Gaucher disease

National

Industry

GENEPSO: French epidemiological cohort of BRCA systemic 

mutations carriers

National

Academia

Gironde registry of hematological malignancies

Regional

Academia

GMF: French registry of myelodysplastic syndromes and 

leukemia chemo- and radio-induced

National

Academia

GTE: French registry of endocrine tumors

National

Academia

Idiopathic pulmonary fibrosis: Cohort studies for evaluation 

of pronostic factors, therapeutic evaluation

National

Academia

INFEVERS: European registry of mutations involved 

in familial mediterranean fever (FMF) and hereditary 

autoinflammatory disorders

European

Academia

International FKRP (Fukutin-Related Protein) defects 

registry - part of TREAT-NMD network

Global

Academia

ITINERAIR-HTAP: French cohort of adult with pulmonary 

arterial hypertension

National

Industry

ITINERAIR-pediatrie: French cohort of children with 

pulmonary arterial hypertension

National

Industry

ITINERAIR-scleroderma: French pulmonary arterial 

hypertension screening cohort of patients with scleroderma

National

Industry

LEA: children and adolescents with acute leukemia : 

propective cohort in France

National

Academia

Left ventricular noncompaction French registry

National

Academia

Mesothelioma cohort in Seine Saint-Denis and Val de Marne

Regional

Academia

Myotonic dystrophy patient registry in France - part of the 

TREAT-NMD network

National

Academia

Paris registry of congenital anomalies - contributes to the 

EUROCAT network

Regional

Academia

PHA1-NET: PseudoHypoAldosteronism type 1 cohort

National

Academia

Primary central nervous system tumors registry of Gironde

Regional

Academia

17

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

Orphanet Report Series - Disease Registries in Europe - January 2011

Regional registry of thyroid cancers in Rhône-Alpes

Regional

Academia

Registry and pronostic cohort of cutaneous lymphomas in 

Aquitaine

Regional

Academia

Registry for digestive cancers in Burgundy

Regional

Academia

Registry of digestive tumors in Calvados (province of 

France)

Regional

Academia

Registry of observed trichinellosis cases in France yearly

National

Academia

Registry of the network studying thrombotic 

microangiopathies

National

Academia

Rhône-Alpes registry of congenital anomalies - contributes 

to the EUROCAT network

Regional

Academia

Rhône-Alpes registry of systemic mastocytosis

Regional

Academia

SYRENE: Rett syndrome network - French database of 

clinical and genetic aspects of Rett syndrome

National

Academia

VALID: cohort creation on Budd-Chiari syndrome, hepatic 

venooclusive disease, hepatoportal sclerosis and portal 

vein thrombosis

European

Academia

Vedrop registry of chronic cholestasis patient with vitamin 

E deficiency

European

Industry

gR - gREECE (2 registries)

ENglISh labEl of ThE aCTIVITy

CoVERagE

INSTITuTIoN

Greek cystic fibrosis patient registry - contributes to the 

EUROCARE CF registry

National

Academia

Greek severe chronic neutropenia patient registry - 

contributes to the SCN international registry (SCNIR)

National

Academia

hR - CRoaTIa (1 registry)

ENglISh labEl of ThE aCTIVITy

CoVERagE

INSTITuTIoN

Croatian cystic fibrosis patient registry - contributes to the 

EUROCARE CF registry

National

Academia

hu - huNgaRy (3 registries)

ENglISh labEl of ThE aCTIVITy

CoVERagE

INSTITuTIoN

Duchenne and Becker muscular dystrophy and spinal 

muscular dystrophy patient registries in Hungary - 

contributes to the TREAT-NMD network

National

Academia

Hungarian cystic fibrosis patient registry - contributes to 

the EUROCARE CF registry

National

Academia

Hungarian severe chronic neutropenia registry - contributes 

to the SCN international registry (SCNIR)

National

Academia

18

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

Orphanet Report Series - Disease Registries in Europe - January 2011

IE - IRElaND (9 registries)

ENglISh labEl of ThE aCTIVITy

CoVERagE

INSTITuTIoN

CFRI: The Cystic Fibrosis Registry of Ireland - contributes 

to the EUROCARE CF registry

National

Academia

Dublin registry of congenital anomalies - contributes to 

the EUROCAT network

Regional

Academia

Galway registry of congenital anomalies - contributes to 

the EUROCAT network

Regional

Academia

Irish myelodysplastic syndromes specific registry

National

Academia

Irish registry for Bernard-Soulier syndrome

National

Academia

Irish registry of amyotrophic lateral sclerosis and motor 

neurone disease

National

Academia

Irish registry of Hurler syndrome

National

Academia

Irish severe chronic neutropenia registry - contributes to 

the SCN international registry (SCNIR)

National

Academia

South East of Ireland registry of congenital anomalies - 

part of BINOCAR and EUROCAT network

Regional

Academia

South of Ireland registry of congenital anomalies - 

contributes to the EUROCAT network

Regional

Academia

Il - ISRaEl (2 registries)

ENglISh labEl of ThE aCTIVITy

CoVERagE

INSTITuTIoN

Israeli cystic fibrosis patient registry - contributes to the 

EUROCARE CF registry

National

Academia

Israelian severe chronic neutropenia registry - contributes 

to the SCN international registry (SCNIR)

National

Academia

IS - ICElaND (2 registries)

ENglISh labEl of ThE aCTIVITy

CoVERagE

INSTITuTIoN

Icelander cancer registry - contributes to the RARECARE 

project

National

Patient organisation

Icelander cystic fibrosis patient registry - contributes to 

the EUROCARE CF registry

National

Academia

IT - ITaly (51 registries)

ENglISh labEl of ThE aCTIVITy

CoVERagE

INSTITuTIoN

Arrhythmogenic right ventricular cardiomyopathy/

dysplasia: clinical registry and database, evaluation of 

therapies, DNA banking

National

Academia

Campania registry of congenital anomalies - contributes to 

the EUROCAT network

Regional

Academia

Duchenne and Becker muscular dystrophy and spinal 

muscular dystrophy patient registries in Italy - contributes 

to the TREAT-NMD network

National

Academia

19

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

Orphanet Report Series - Disease Registries in Europe - January 2011

Emilia Romagna registry of congenital anomalies (IMER) - 

contributes to the EUROCAT registry

Regional

Academia

EUROFEVER: European registry for autoinflammatory 

diseases

Global

Academia

European registry of congenital dyserythropoietic anemia

European

Academia

FMF: Italian registry for familial mediterranean fever in the 

young

National

Academia

Friedreich's ataxia Italian patient registry

National

Academia

GLATIT: Glanzmann thrombasthenia Italian registry

National

Academia

HAE-registry: European hereditary angioedema patient 

registry

European

Academia

IBAHC: Italian registry for alternating hemiplegia of 

childhood

National

Academia

International registry of bone fragility fractures in the 

young

Global

Academia

International Registry of Rare Bleeding Disorders (RBDD)

Global

Academia

International registry of recurrent and familial hemolytic 

uremic syndrome / thrombotic thrombocytopenic purpura

Global

Academia

International registry on thrombotic thrombocytopenic 

purpura (TTP)

Global

Academia

Italian alpha-1 antitrypsin deficiency registry - contributes 

to the Alpha One International Registry (AIR)

National

Academia

Italian cystic fibrosis patient registry - contributes to the 

EUROCARE CF registry

National

Academia

Italian genetic movement disorders registry

National

Academia

Italian Li-Fraumeni syndrome registry

National

Academia

Italian neuroblastoma registry

National

Academia

Italian registry for cri du chat syndrome (monosomy 5p)

National

Academia

Italian registry for hereditary multiple exostoses

National

Academia

Italian registry for MYH9-related thrombocytopenia

National

Academia

Italian registry of adult patients affected by familial 

mediterranean fever

National

Academia

Italian registry of congenital nephrotic syndromes

National

Academia

Italian registry of Creutzfeldt-Jakob disease and correlated 

syndromes

National

Academia

Italian registry of diffuse infiltrative pneumopathies

National

Academia

Italian registry of hemophilia centre (AICE)

National

Academia

Italian registry of hypertrophic cardiomyopathy in 

Anderson-Fabry disease

National

Academia

Italian registry of Legionellosis

National

Academia

Italian registry of maturity onset diabetes of the young 

(MODY)

National

Academia

Italian registry of muscle channel-diseases

National

Academia

Italian registry of myotonic dystrophies

National

Academia

Italian registry of patients and families affected by 

Pseudoxanthoma Elasticum

National

Academia

Italian registry of skeletal dysplasia

National

Academia

Italian retinoblastoma registry

National

Academia

20

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

Orphanet Report Series - Disease Registries in Europe - January 2011

Italian severe chronic neutropenia registry - contributes to 

the SCN international registry (SCNIR)

National

Academia

North-east Italy registry of neurofibromatosis

Regional

Academia

North-East of Italy registry of congenital anomalies - 

contributes to the EUROCAT network

Regional

Academia

Regional registry for neuromuscular disorders

Regional

Academia

Registry of inherited bleeding disorders in Emilia-Romagna 

region

Regional

Academia

Registry of pregnant patients affected by essential 

thrombocythemia

National

Academia

RIAF: Fanconi's anemia Italian registry

National

Academia

RIAT: Ataxia teleangiectasia Italian registry

National

Academia

RICH: Italian registry of infants with congenital 

hypothyroidism

National

Academia

RIMM: Italian registry for myelofibrosis with myeloid 

metaplasia

National

Academia

RISMD: Italian myelodysplastic syndromes registry

National

Academia

Sicilian registry of congenital anomalies (ISMAC) - 

contributes to the EUROCAT network

Regional

Academia

Tuscany registry of congenital anomalies - contributes to 

the EUROCAT network

Regional

Academia

Venetian registry of rare diseases

Regional

Academia

V-RIAT: variant Ataxia telangiectasia Italian registry

National

Academia

lT - lIThuaNIa (1 registry)

ENglISh labEl of ThE aCTIVITy

CoVERagE

INSTITuTIoN

Lithuanian cystic fibrosis patient registry - contributes to 

the EUROCARE CF registry

National

Academia

lu - luXEMbouRg (1 registry)

ENglISh labEl of ThE aCTIVITy

CoVERagE

INSTITuTIoN

Luxembourgers cystic fibrosis patient registry - contributes 

to the EUROCARE CF registry

National

Academia

lV - laTVIa (1 registry)

ENglISh labEl of ThE aCTIVITy

CoVERagE