Patient registries in the field of rare diseases



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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

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