programme of community action on rare...

Programme of community action on rare diseases

Contract 2002/CVG4

ORPHANET : Intermediate

scientific report

May 2003

Summary

The project was to extend the content of the already existing ORPHANET database to build up a truly European database. The first year (Dec 00-November 01) was the feasibility study year and a pilot study with four countries. The second year (Dec 01- Nov 02) was the year of the move from a French encyclopaedia to a European one, and the year of the collection of data on services in 7 countries. The third year (Dec 1,2002 – Nov 03) is the year of the data collection up to completeness in 7 of the participating countries and the year of identification of sources and satrt of the data collection in the new country: Portugal.. For the encyclopaedia, a board of 83 editors has been established progressively, specialty by specialty and authors of texts nominated. For the 3,500 diseases, there are on-line: 990 summaries in French, 833 summaries in English, 445 review articles in French or in English. The data about services are partially collected in all participating countries and already released for Italy, Belgium, Switzerland, Germany and Spain. The amount of data released is: 594 patient support groups, 945 laboratories providing diagnostic tests, 1392 research projects and 945 expert clinics. The Italian, German and Spanish versions of the website are now active. The usefulness of the database is assessed through the number of connections. In April 2003, we have had during the month visits from 101,400 different visits from 113 different countries. The Orphanet project is developing according to the plans. The procedures are now well in place and should be easily adopted by the new partners. National funding is securing the activities in France, Italy and Spain. Several countries are on the way of having national complementary funding as well.

Final scientific report, february 2003 2/ 23

List of partners Subject : ORPHANET

BELGIUM

Pr Jean-Pierre Fryns Director of the Center for Human Genetics University of Leuven Campus Gasthuisberg Herestaat 49 B-3000 LEUVEN Tel : 00 32 16 34 58 60 Fax : 00 32 16 34 59 97

GERMANY

Pr Joerg Schmidtle Department of Human Genetics Carl6Neuberg-Str. 1 D-30625 Hannover Tel : 00 49 511 532 6537 Fax : 00 49 511 532 5865

ITALY

Pr Bruno Dallapiccola Istituto CSS – Mendel Viale Regina Margherita 261 00196 ROMA Tel : 39 06 44 16 05 03 Fax : 39 06 44 16 05 48

SWITZERLAND :

Dr Celia Delozier-Blanchet Institute of Medical Genetics CMU 1, rue Michel – Servet CH-1211 GENEVE 4 Tel : 00 41 22 702 57 07 Fax : 00 41 22 702 57 06

AUSTRIA

Pr Gerd Utermann Institut für Medizinische Biologie und Humangenetik Der Universität Innsbruck Schöpfstrasse 41 A-6020 INSBRUCK Tel : 00 43 512 50 73 450 Fax : 00 43 512 50 72 861

SPAIN

Dr Miguel Del Campo Universitat Pompeu Fabra Department Cieucies Experimentals Facultat Ciencies de la Salut Dr Aiguader 80 08003 BARCELONA

PORTUGAL

Pr Margarida Reis Lima Instituto de Genetica Medica Praça Pedro Nunes,88 P-4050-466 PORTO Tel : 00 351 22 607 03 07 Fax : 00 351 22 607 03 99


Intermediate scientific report

December 2002- May 2003

Goal of the EC funded project

The project was to extend the content of the already existing ORPHANET database to build up a truly European database. The first year (Dec 00-November 01) was the feasibility study year and a pilot study with four countries. The second year (Dec 01- Nov 02) was the year of the move from a French encyclopaedia to a European one, and the year of the collection of data on services in 7 countries. The third year (Dec 1,2002 – Nov 03) is the year of the data collection up to completeness in 7 of the participating countries and the year of identification of sources and satrt of the data collection in the new country: Portugal.. The European project has two parts:

1- the establishment of an on-line Encyclopaedia on rare diseases 2- the extension of the existing directory of services to services in 7 European countries.

1- The on-line Encyclopaedia 1.3 Contributing authors The list of authors who have already written up one or more entries, or accepted to do so is the following:

EUROPEAN TEXTS ON LINE OR PENDING - May 2003 Disease name Author Status 2,8 dihydroxyadenine urolithiasis SIMMONDS Online 3C syndrome FAIVRE Online 4-hydroxybutyricaciduria JAEKEN Online 5-oxoprolinase deficiency RISTOFF Online 6-pyruvoyl-tetrahydropterin synthase, deficiency DHONDT Online Aarskog syndrome PHADKE Online Aase syndrome ALBUISSON pending

Abnormal systemic veinous return ANDERSON Pending Achondrogenesis FAIVRE Online Achromatopsia incomplete, X-linked ROCHE Online Acrocephalopolydactyly NAEYAERT Online Acromegaloid facial appearance syndrome ALBUISSON pending

Acromesomelic dysplasia Hunter-Thompson type FAIVRE Online Acromesomelic dysplasia, Grebe type FAIVRE Online Acromesomelic dysplasia, Maroteaux type FAIVRE Online Acute articular rheumatism WEIL pending

Acute eosinophilic pneumonia, idiopathic PHILIT Online


Acute lymphoblastic leukemia VASSAL Online Adenosine monophosphate deaminase deficiency GROSS Online Adenylosuccinate lyase deficiency SAUDUBRAY Online Adrenoleukodystrophy, X-linked AUBOURG Online Adult Onset Still's disease FAUTREL Online Agammaglobulinemia X-linked FISCHER Online Agammaglobulinemia, autosomal recessive DURANDY Online Aganthia holoprosencephaly situs inversus DELAHAYE pending

Aglossia adactylia ROBERT-GNANSIA Online Aicardi-Goutieres syndrome LEBON Online Albinism ocular ROCHE Online Albright hereditary osteodystrophy KOTTLER Online Aldolase A deficiency BAUSSAN Online Alexander disease RODRIGUEZ Online Allan-Herndon syndrome SCHWARTZ Online Alpha thalassemia-mental retardation, X linked GIBBONS Online Alpha-mannosidosis MAIRE Online Alport syndrome SESSA Online Alzheimer disease, familial BRICE Online Amaurosis congenita of Leber ROCHE Online Amelogenesis imperfecta x linked CRAWFORD pending

Aminopterin embryofetopathy ROBERT-GNANSIA Online Amyloidosis GRATEAU Online Amyotrophic lateral sclerosis VAN DER GRAAFF Online Anaplastic large cell lymphoma VASSAL Online Anderson disease BOLDRINI Online Aneurysm of sinus of Valsalva KAEMMERER Pending Angioneurotic edema BOUILLET Online Ankylosing spondylarthritis DOUGADOS Online Anophthalmos, clinical ROCHE Online Anorexia nervosa, genetic types GORWOOD Online Antiphospholipid syndrome TEKTONIDOU Online Antisynthetase syndrome TZIOUFAS Online Aortic arch interruption PONGIGLIONE Pending Aortic arches defect GOLDMUNTZ Pending Aorto-ventricular tunnel MACKAY Pending Argininosuccinicaciduria SAUDUBRAY Online Arrythmogenic right ventricular dysplasia THIENE On line Aspartylglycosaminuria MAIRE Online Asperger syndrome ATTWOOD Online Ataxia, Friedreich-like, with selective vitamin E deficiency BRICE Online Atrial septal defect atrioventricular conduction BENSON Online


Atrial septal defect atrioventricular conduction BENSON Online Atypical coarctation of aorta KAEMMERER Online Autoimmune lymphoproliferative syndrome LE DEIST Online Autosomal recessive cerebellar ataxia PALAU Pending

Bardet-Biedl syndrome BONNEAU Online Barth syndrome DE LONLAY Online Bartsocas papas syndrome ROBERT-GNANSIA Online Bartter syndrome COLUSSI Online Beckwith-Wiedemann syndrome GICQUEL Online Behcet disease WECHSLER Online Behr syndrome ORSSAUD Online Benign epilepsy of childhood with rolandic spikes (BECRS) PRATS-VINAS Online Benign familial infantile epilepsy PLOUIN Online Berger disease SAVOLDI Online Best disease ZRENNER Online Betaketothiolase deficiency FUKAO Online Beta-mannosidosis LEVADE Online Bethlem myopathy URTIZBEREA Online Blount disease DELAHAYE pending

Boomerang dysplasia DELAHAYE pending

Brain stem tumor GRILL Online Brittle bone syndrome lethal type ROBERT-GNANSIA Online Bronchiolitis obliterans with obstructive pulmonary disease CORDIER Online Brugada syndrome NAPOLITANO Online Buerger's disease ARKKILA Online Bullous pemphigoid BERNARD Online Burkitt lymphoma VASSAL Online CACH syndrome RODRIGUEZ Online Caffey disease HALL Online Camurati engelmann disease ALBUISSON Pending

Cardiac conduction defect, familial POLITANO Pending Cardiac diverticulum VAZQUEZ-JIMENEZ Online Cardiomyopathy dilated with conduction defect COMI Online Cardiomyopathy hearing loss type trna lys gene mutation DE LONLAY Pending Cardiomyopathy, familial dilated MESTRONI Pending Carnitine palmitoyl transferase 2 deficiency BONNEFONT Online Carnitine uptake deficiency SAUDUBRAY Online Carnitine-acylcarnitine translocase deficiency BRIVET Online Carnosinemia JAEKEN Online Castleman disease SARROT-REYNAULD Online Cataract, total congenital ROCHE Online Cataract-microcornea syndrome GRONEMEYER Online


CDG syndrome SETA Online Celiac disease HOLTMEIER Online Cerebellar ataxia areflexia pes cavus optic atrophy and sensorineural hearing loss ROBERT-GNANSIA Online

Cerebelloparenchymal disorder 3 MÉGARBANE Online Cerebral arterio-venous fistula LASJAUNIAS Pending Chaotic atrial tachycardia VILLAIN Pending CHARGE association BLAKE Pending

Chorioretinopathy, birdshot type PRIEM Online Choroideremia HOYNG Online Chronic berylliosis MÜLLER-QUERNHEIM Online Chronic hiccup CABANE Online Churg-Strauss syndrome GROSS Online Cluster headache VISY Online Coats disease DEL LONGO Online Coffin-Lowry syndrome HANAUER Online Cofs syndrome ALBUISSON Pending

Cogan syndrome VINCENEUX Online Cohen syndrome Kivitie-Kallio Pending

Colon cancer, familial nonpolyposis OLSCHWANG Online Complete atrioventricular canal CALABRÒ Online Congenital mitral malformation BONNET Pending Congenital nephrotic syndrome, finnish type NIAUDET Online Congenital rubella syndrome ROBERT-GNANSIA Online Connexin 26 anomaly MARLIN Online Conotruncal cardiopathy, familial WILSON Pending Conotruncal heart malformations QUERO Pending Continuous spike-wave during slow sleep syndrome METZ-LUTZ Online Coronaro-cardiac fistula QURESHI Pending Coronary arteries congenital malformation BONNET Pending Corpus callosum agenesis MOUTARD Online Crigler-Najjar syndrome LABRUNE Online Criss-cross heart SANDERS Online Crohn disease CORTOT Online Cryoglobulinemia FERRI Online Cryptogenic organized pneumopathy CORDIER Online Cutis verticis gyrata REYGAGNE Online Cystinosis NIAUDET Online Dandy walker facial hemangioma NAULAERS Pending

De sanctis cacchione syndrome ALBUISSON Pending

Defective expression of HLA class 2 FISCHER Online Dehydratase deficiency DHONDT Online


Deletion 1p36 SLAVOTINEK Pending

Deletion 2q24 MAAS Online Deletion 4p WIECZOREK Pending

Deletion 5q35 STOLL Online Dent disease GRUNFELD Online Dentatorubral pallidoluysian atrophy BRICE Online Denys-Drash syndrome NIAUDET Online Dermatomyositis CHERIN Pending DES embryofetopathy ROBERT-GNANSIA Online Desbuquois syndrome FAIVRE Online Dextrocardia ANDERSON Pending Diabetic embryopathy ROBERT-GNANSIA Online Diffuse leiomyomatosis with Alport syndrome SESSA Online Dihydropteridine reductase deficiency DHONDT Online Distal myopathy with vocal cord weakness PENISSON-BESNIER Online Distal myopathy, Nonaka type PENISSON-BESNIER Online Dopamine beta-hydroxylase deficiency SENART Online Double discordia ANDERSON Pending Double outlet right ventricle WILKINSON Online Double outlet right ventricle WILKINSON On line Duane syndrome PIOZZI Online Dubowitz syndrome TSUKAHARA Online Eales disease BARTOLUCCI Online Ebstein anomaly WILKINSON Pending Ectopic coarctation KAEMMERER Online Elejalde syndrome NAEYAERT Online Eosinophilic idiopathic chronic pneumopathy MARCHAND Online Ependymoma VASSAL Online Epidermolysa bullosa simplex and limb girdle muscular dystrophy URTIZBEREA Online

Erythroderma lethal congenital ROBERT-GNANSIA Online Ewing sarcoma VASSAL Online Exostoses, multiple LEGEAI-MALLET Online Faciocardiomelic dysplasia lethal ROBERT-GNANSIA Online Familial adenomatous polyposis OLSCHWANG Online Familial amniotic bands ROBERT-GNANSIA Online Familial focal segmental glomerulosclerosis GRUNFELD Online Familial hemophagocytic lymphohistiocytosis (FHL) DE SAINT-BASILE Online Fanconi anemia MOUSTACCHI Online Farber lipogranulomatosis LEVADE Online Fetal dihydantoin syndrome ROBERT-GNANSIA Online Fetal iodine syndrome ROBERT-GNANSIA Online


Fetal methyl mercury syndrome ROBERT-GNANSIA Online Fetal minoxidil syndrome ROBERT-GNANSIA Online Fetal trimethadione syndrome ROBERT-GNANSIA Online Fetal valproic syndrome ROBERT-GNANSIA Online FG syndrome OPITZ Online Fibrochondrogenesis AL-GAZALI Online Fibrodysplasia ossificans progressiva URTIZBEREA Online Fibromatosis juvenile hyaline RAHMAN Online Fixed subaortic stenosis HAUSER Online Fraser syndrome ROBERT-GNANSIA Online Friedreich ataxia BRICE Online Frontonasal dysplasia klippel feil syndrome DELAHAYE Pending

Fructose-1,6-bisphosphatase deficiency BAUSSAN Online Fumaric aciduria SAUDUBRAY Online Galactosialidosis MAIRE Online Gamma-glutamyl transpeptidase deficiency RISTOFF Online Gamma-glutamylcysteine synthetase deficiency RISTOFF Online Gaucher disease STIRNEMMAN Pending

Generalized epilepsy with febrile seizures plus (GEFS+) GOURFINKEL-AN Online Giant cell arteritis DUHAUT Online Gitelman syndrome MEIJ Online Glaucoma, hereditary DUREAU Online Glucosephosphate isomerase deficiency MAX-AUDIT Online Glutaryl-CoA dehydrogenase deficiency HOFFMANN Online Glycogen storage disease type 1 MAIRE Online Glycogen storage disease type 2 MAIRE Online Glycogen storage disease type 2B FROISSART Online Glycogen storage disease type 3 MAIRE Online Glycogen storage disease type 4 MAIRE Online Glycogen storage disease type 5 MAIRE Online Glycogen storage disease type 6A, due to phosphorylase kinase deficiency MAIRE Online Glycogen storage disease type 6B, due to liver phosphorylase deficiency MAIRE Online

Glycogen storage disease type 7 MAIRE Online Glycogenose, type 0 MAIRE Online Goodpasture pneumorenal syndrome ROSSERT Online Gorlin syndrome LO MUZIO Online Great vessels transposition COOK Pending Griscelli disease DE SAINT-BASILE Online GTP cyclohydrolase deficiency DHONDT Online Guanidinoacetate methyltransferase deficiency STOECKLER-IPSIROGLU Online Gusher syndrome MARLIN Online


Hallervorden-Spatz disease HARPEY Online Heart tumor of child UZUN Pending Hemangiopericytoma MAREC-BÉRARD Online Hemochromatosis familial BRISSOT Online Hepatoblastoma VASSAL Online Hereditary methemoglobinemia, recessive BEAUVAIS Online Hereditary primary hypomagnesemia (generic term) MEIJ Online Hirschsprung disease deafness polydactyly ALBUISSON Pending

Hirschsprung disease type d brachydactyly MOWAT Pending

His bundle tachycardia VILLAIN Online His bundle tachycardia VILLAIN Online Histidinemia LEVY Online Hodgkin disease VASSAL Online Holt-Oram syndrome BOSSERT Pending Homocarnosinosis JAEKEN Online Homocystinuria due to cystathionine beta-synthase deficiency YAP Pending Huntington disease BRICE Online Hyperferritinemia, hereditary, with congenital cataracts BEAUMONT Online Hyper-IGM syndrome, autosomal recessive DURANDY Online Hyper-IGM syndrome, X-linked FISCHER Online Hyperimmunoglobinemia D with recurrent fever GRATEAU Online Hyperornithinemia SAUDUBRAY Online Hyperoxaluria NIAUDET Online Hypomagnesemia caused by selective magnesium malabsorption MEIJ Online

Hypomagnesemia with hypocalciuria MEIJ Online Hypomagnesemia with normocalciuria MEIJ Online Hypoparathyroidism, deafness and renal disease (HDR) GRUNFELD Online Hypoplastic left heart syndrome WILSON Pending Idiopathic neonatal atrial flutter WREN Pending IgA, selective deficiency of FISCHER Online Immune deficiency, familial variable FISCHER Online Immune dysregulation, polyendocrinopathy, enteropathy, X-linked CASANOVA Online

Incessant infant ventricular tachycardia WEREN Pending Inclusion body myositis, IBM CHERIN Pending Indomethacin embryofetopathy ROBERT-GNANSIA Online Infantile recurrent chronic multifocal osteomyelitis GIRSCHICK Online Interferon gamma, receptor 1, deficiency FISCHER Online Iridogoniodysgenesis, dominant type DUREAU Online Isthmian coarctation KAEMMERER Pending Johanson-Blizzard syndrome STEINBACH Online Kallmann syndrome HARDELIN Online


Kawasaki disease MAHR Online Kimura disease LARROCHE Online Klinefelter syndrome GRAHAM Online Langerhans cell histiocytosis DONADIEU Online Left ventricle-aorta tunnel BONNET Pending Lesch-Nyhan syndrome TORRES JIMÉNEZ Online Li-Fraumeni syndrome CHOMPRET Online Linitis plastica POCARD Online Lipodystrophy, Berardinelli type VAN MALDERGEM Online Lissencephaly syndrome type 1 PILZ Pending

Long QT syndrome BEHR Pending Lymphangioleiomyomatosis JOHNSON Online Lymphoblastic lymphoma VASSAL Online Macrophagic myofasciitis CHERIN Online Macular degeneration, age-related MARDIN Online Malignant hyperthermia susceptibility NIVOCHE Online Marfan syndrome LEPARC Online Maternal hyperphenylalaninemia ABADIE Online Mediterranean fever, familial TOUITOU Online Medullary cystic kydney disease, autosomal dominant AMOROSO Online Medulloblastoma VASSAL Online Megalencephalic leukodystrophy LOPEZ-TERRADAS Online Mendelian susceptibility to atypical mycobacteria CASANOVA Online Menkes syndrome CORDIER-ALEX Online Mental retardation, X linked, marfanoid habitus VAN BUGGENHOUT Online Mesangial sclerosis, diffuse NIAUDET Online Methimazole embryofetopathy ROBERT-GNANSIA Online Methylmalonicaciduria with homocystinuria SAUDUBRAY Online Microcoria, congenital ROCHE Online Microdeletion 22q11 PHELANT Pending

Microphthalmia, Lentz type ROCHE Online Microscopic polyangiitis JENNETTE Online Mitral atresia BONNET Pending Molybdenum cofactor deficiency SAUDUBRAY Online Muckle-Wells syndrome GRATEAU Online Mucopolysaccharidosis type 1 BECK Online Mucopolysaccharidosis type 2 MAIRE Online Mucopolysaccharidosis type 6 FROISSART Online Mucopolysaccharidosis type 7 MAIRE Online Mucosulfatidosis MAIRE Online Multiple sclerosis CHABAS Online MURCS association CARRANZA-LIRA Online


Muscular dystrophy limb-girdle (generic term) VAN DER KOOI Online Muscular phosphorylase kinase deficiency BAUSSAN Online Myoclonic dystonia GASSER Online Myoneurogastrointestinal encephalopathy syndrome LOMBES Online N5-methylhomocysteine transferase deficiency SAUDUBRAY Online Nail-patella syndrome NIAUDET Online Nance-Horan syndrome TOUTAIN Online Nasopharyngeal cancer BRENNAN Online Naxos disease PROTONOTARIOS Online Nephroblastoma VASSAL Online Nephronophtisis NIAUDET Online Nephropathy familial with gout GHIGGERI Online Nephrotic syndrome, idiopathic steroid-resistant NIAUDET Online Neuroblastoma VASSAL Online Neurofibromatosis type 2 OLSCHWANG Online Neurofibromatosis type 6 PINSON Online Neuropathy hereditary motor and sensory lom type KALAYDJIEVA Online Neuropathy hereditary with liability to pressure palsies GILBERT Online Night blindness, congenital stationary ROCHE Online Non-alcoholic steatohepatitis DUFOUR Online Non-Hodgkin malignant lymphoma (generic term) VASSAL Online Norrie disease ROCHE Online Oculopharyngeal muscular dystrophy URTIZBEREA Online Oligomeganephronic renal hypoplasia NIAUDET Online Olivopontocerebellar hypoplasia lethal type ROBERT-GNANSIA Online Ophthalmo acromelic syndrome TEKIN Online Optic atrophy ORSSAUD Online Optic atrophy, Leber type ORSSAUD Online Optic nerve coloboma with renal disease GRUNFELD Online Ornithine carbamoyltransferase deficiency SAUDUBRAY Online Orofaciodigital syndrome type1 PRATI Online Osteogenesis imperfecta CHEVREL Online Osteopetrosis, malignant WILSON Pending

Osteosarcoma VASSAL Online Ovarian germ cell malignant tumor RAY-COQUARD Online Ovarian tumor of sex cord-stromal origin RAY-COQUARD Online Oxoglutaricaciduria SAUDUBRAY Online Pallister-Hall syndrome LACOMBE Online Parkinson disease, genetic types BRICE Online Parsonage-Turner syndrome KOLEV Online Partial atrioventricular canal BINI Online Patent ductus arteriosus familial MARTIN Pending


Pendred syndrome MARLIN Online Pericardium congenital anomaly GILDEIN Online Persistent hyperinsulinemic hypoglycemia of infancy DE LONLAY Online Peters anomaly ROCHE Online Peters-plus syndrome ROCHE Online Peutz-Jeghers syndrome OLSCHWANG Online Phenobarbital embryopathy ROBERT-GNANSIA Online Pheochromocytoma PLOUIN Online Phosphoglycerate kinase 1 deficiency MAX-AUDIT Online Phosphoribosylpyrophosphate synthetase superactivity BECKER Online Pigmentary retinopathy DOLLFUS Online Pipecolic acidemia SAUDUBRAY Online Plasminogen activitor inhibitor type 1 deficiency, congenital ANGLES-CANO Online Platelet ADP P2Y12 receptor targeted by anti-thrombotic drugs, deficiency of NURDEN Online

Polycystic kidney disease, dominant type NIAUDET Online Polycystic kidney disease, recessive type NIAUDET Online Polymicrogyria VILLARD Online Polymorphic catecholergic ventricular tachycardia LUCET Online Polymorphic catecholergic ventricular tachycardia LUCET On line Polymyositis CHERIN Pending Post-poliomyelitic syndrome NOLLET Online Primary ciliary dyskinesia ETIENNE Online Primary lateral sclerosis BRUGMAN Online Primary pulmonary lymphoma CADRANEL Online Progeria FAIVRE Online Progressive external ophtalmoplegia LOMBES Online Prolidase deficiency JAEKEN Online Pseudohypoaldosteronism type 1 GRUNFELD Online Pseudomyxoma peritonei SHERER Online Psoriatic arthritis COMBE Online Pulmonar fibrosis, idiopathic CORDIER Online Pulmonary alveolar proteinosis, congenital RUSSI Online Pulmonary arterio-veinous fistula CORDIER Online Pulmonary artery coming from the aorta AZCARATE Pending Pulmonary branches stenosis BOUDJEMLINE Pending Pulmonary Langerhans' cell histiocytosis in adult TAZI Online Pulmonary supravalvular stenosis BOUDJEMLINE Pending Pulmonary valve stenosis BOUDJEMLINE Pending Pulmonary valves agenesis SAUER Pending Pulmonary veins stenosis HOVELS-GURISH Pending Pulmonary venous return anomaly HOVELS-GURISH Pending


Pyomyositis LORTHOLARY Online Pyroglutamicaciduria RISTOFF Online Pyruvate kinase deficiency MAX-AUDIT Online Relapsing polychondritis DROSOS Online Renal hypomagnesemia, hypercalciuria, nephrocalcinosis KNOERS Online Retinoblastoma VASSAL Online Retinoschisis, X-linked ROCHE Online Rett syndrome MANCINI Online Rhabdomyosarcoma VASSAL Online Right atrium familial dilatation BONNET Pending Right ventricule hypoplasia BONNET Pending Robinow syndrome DELAHAYE Pending Saethre-Chotzen syndrome CLAUSER Online SAPHO syndrome SCHILLING Online Sarcosinemia JAEKEN Online Schindler disease MAIRE Online Schnitzler syndrome LIPSKER Online Scleroderma VLACHOYIANNOPOULOS Online Scott syndrome KERBIRIOU-NABIAS Online Seckel syndrome FAIVRE Online Severe combined immunodeficiency due to adenosine deaminase deficiency PERIGNON Online Severe combined immunodeficiency, T- B+ due to JAK3 deficiency NOTARANGELO Online

Sialidosis type 1 and 2 MAIRE Online Silver-Russell dwarfism TOUTAIN Online Simpson-Golabi-Behmel syndrome TOUTAIN Online Sjögren syndrome MANOUSSAKIS Online Smith-Magenis syndrome De Leersnyder Pending

Spastic paraplegia, familial VALENTE Online Spondyloepimetaphyseal dysplasia HALL Online Spontaneous periodic hypothermia HAUSFATER Online Stargardt disease DEUTMAN Online Subpulmonary stenosis VOGT Pending Subvalvular aortic stenosis HAUSER On line Succinyl-CoA acetoacetate transferase deficiency FUKAO Online Supravalvar aortic stenosis BOUVAGNET Online Supravalvular aortic stenosis BOUVAGNET Online Susac syndrome BARTOLUCCI Online Systemic vasculitis (generic term) BARTOLUCCI Online TAP deficiency FISCHER Online Thrombocythemia, essential BRIERE Online Toluene embryopathy ROBERT-GNANSIA Online


Townes-Brocks syndrome MARLIN Online Tracheobronchomegaly CORDIER Online Tracheobronchopathia osteoplastica LAZOR Online Transcobalamin II deficiency KAMOUN Online Triatrial heart ANDERSON Pending Tricuspid atresia COOK Pending Trimethylaminuria EUGENE Online Triose phosphate-isomerase deficiency LIVET Online Triple H (HHH) syndrome SAUDUBRAY Online Troncus arteriosus malformation BALLERINI Pending Tuberous sclerosis WOLKENSTEIN Online Tyrosinemia type 1 SAUDUBRAY Online Udd tibial myopathy PENISSON-BESNIER Online Uhl anomaly GERLIS On line Ulcerative colitis ARDIZZONE Pending

Univentricular heart ANDERSON Pending Usher syndrome LORENZ Online Valvular dysplasia of the child BONNET Pending Vascular malposition SIDI Pending Ventricular septal defect KACHANER Pending Viscero-atrial heterotaxia (Heart situs anomaly included) ANDERSON Pending Vitamin D resistant rickets GARABEDIAN Online Waardenburg syndrome type 1 FAIVRE Pending

Waardenburg syndrome type 2 FAIVRE Pending

Waardenburg syndrome type 3 FAIVRE pending

Waardenburg-Shah syndrome TOURAINE Online Wagner disease EDERY Online Weaver syndrome DELAHAYE Pending

Wegener granulomatosis GUILLEVIN Online Welander distal myopathy, swedish type PENISSON-BESNIER Online Whipple disease FEURLE Online Wilson disease BARTOLUCCI Online Xanthinuria SIMMONDS Online X-linked lymphoproliferative disease FISCHER Online X-linked severe combined immunodeficiency, T- B+ DE SAINT-BASILE Online ZAP70 deficiency NOTARANGELO Online 1.2 Content of the Encyclopaedia The content of the ORPHANET encyclopaedia as of 15 May 2003 is: Number of diseases: ...................................................3,547


Number of summaries in French .................................. 990 Number of summaries in English ................................. 833 Number of long texts in French and English................. 445


2- The directory of services The directory of services includes information on resources supposed to improve the management of rare diseases. 2.1 Management of the database The database is hosted by the Orphanet Sun server located in Evry, suburb of Paris. The database management system is Sybase. There is a team of 2 computer scientists attached to it. The database can be accessed by each partner from its place. The rights are well defined and each partner can only input on data from its country. The overall data collection process is under the responsibility of a French information scientist who is in charge of the training of all partners and of the internal quality control. The collection of data is done by information scientists at the country level: 3 in France, 3 in Italy, 1 in Germany, Switzerland, Belgium Austria, Portugal and Spain. Each national partner is responsible for the following tasks: collecting, validating and entering in the database information on:

- clinical laboratories performing diagnostic tests for rare diseases ( type of test, protocol)

- on-going research programmes about rare diseases (title of the programme, name of the responsible scientist, address)

- patients' organisations dedicated to rare diseases (name of the association, president, address, text of presentation)

- specialised clinics dedicated to rare diseases

2.2 National scientific advisory committees Each partner has established a scientific asvisory committee which is in charge of advising the country coordiantor and of reviewing all the data before their release. The compositionj of these committees is the following. Scientific Advisory Committee for Belgium The activities of Orphanet are, at present under the supervision of the"High Council of Anthropogenetics" at the Belgian Ministry of Health. The activities of Orphanet are, at present under the supervision of the "High Council of Anthropogenetics" at the Belgian Ministry of Health. Members are: Drs. Y. Gillerot, A. De Paepe, M. Nöthen, V. Bours, I. Liebaers, G. Vassart and J-P. Fryns. Scientific Advisory Committee for France Pr François Bargy, chirurgie pédiatrique Pr François Baud, toxicologie Pr Nicole Baumann, maladies métaboliques adulte Dr Claudine Blanchet-Bardon, dermatologie Dr Damien Bonnet, cardiologie enfant Pr Philippe Bouchard, endocrinologie Pr Alexis Brice, neurologie adulte Pr Françoise Brion, médicament


Pr Gilbert Tchernia, hématologie Pr Jean-Alain Chayvialle, gastro-entérologie Pr Jean-François Cordier, pneumologie Dr Valérie Cormier-Daire, maladies osseuses enfant Pr Martin Danis, parasitologie Pr Pierre Delmas, rhumatologie adulte Pr Marc Delpech, biochimie Pr Louis Dubertret, dermatologie Pr Denis Duboc, cardiologie adulte Pr Jean Louis Dufier, ophtalmologie enfant Dr Béatrice Fervers,oncologie Pr Alain Fischer, immunologie enfant Pr Antoine Flahault, épidémiologie Pr Alain Gaudric, ophtalmologie adulte Dr Marie Gonzales, foeto-pathologie Pr Michel Goossens, biologie moléculaire Pr Jean-Pierre Grünfeld, néphrologie adulte Pr Loïc Guillevin, médecine interne Pr Xavier Jeunemaitre, maladies cardiovasculaires Pr Jean Kachaner, cardiologie enfant Pr Didier Lacombe, dysmorphologie Pr Marion Leboyer, Psychiatrie Pr Xavier Mariette, rhumatologie Pr Patrick Niaudet, néphrologie enfant Dr Luc Paris, parasitologie Pr Thierry Philip , cancérologie adulte Pr Gérard Ponsot, maladies neuromusculaires enfants Pr Anne-Marie Prieur, rhumatologie enfant Dr Elisabeth Robert, Tératologie Pr Jean-Marie Saudubray, maladies métaboliques Pr Olivier Sterkers, O.R.L.adulte Pr Andoni Urtizberea, maladies neuromusculaires Pr Dominique Valla, hépatologie Pr Gilles Vassal, cancérologie enfant Mr Guy Vaysseix, informatique Pr Michel Vekemans, génétique Scientific Advisory Committee for Germany Pr. F. Hanefeld, Göttingen (Chair), Neuropediatrics Pr. K. Rüther, Berlin, Ophthalmology Pr. R. Happle, Marburg, Dermatology Pr. E.-G. Brabant, Hannover, Endocrinology Pr. W. Rösch, Frankfurt, Gastroenterology Pr. H. Feldmeier, Berlin, Infectious Diseases Dr. F. Dressler, Hannover, Pediatric Rheumatology Pr. B. Schlegelberger, Hannover, Oncology Pr. U. Costabel, Essen, Pneumology Pr. K.-F. Sewing, Hannover, Toxicology and Pharmacology


Scientific Advisory Committee for Switzerland Pr Claude Bachmann (Lausanne) Metabolic diseases Dr. Armand Bottani (Geneva) Medical Genetics Prof. Jean-Michel Dayer (Geneva) Immunology Dr. Michel Duchosal (Lausanne) Hematology & Oncology Pr Cem Gabay (Geneva) Rheumatology Dr. N. Guertler (Aarau) Oto-rhino-laryngology Dr. Charles A. Haenggeli(Geneva) Child Neurology Pr. Daniel Hohl (Lausanne) Dermatology/Venerology Dr. H.Jung (Zurich) Adult Neurology Dr. Dagmar Keller (Basel) Cardiology Dr. Romain Lazor (Geneva) Pneumology Dr. Christoph Meier (Geneva) Endocrinology and Diabetes Scientific Advisory Committee for Italy Pr Giorgio Federici, Rome, Biochemistry Pr. Antonio Pizzuti, Rome, Molecular Biology Pr. Filippo Crea, Rome, Cardiology Dr Franca Dagna Bricarelli, Genoa, Cytogenetics Dr. Giovanna Zambruno, Rome, Dermatology Dr. Cristina Digilio, Rome, Dysmorphology Pr. Vincenzo Trischitta, San Giovanni Rotondo, Endocrinology Dr Angelo Andriulli, San Giovanni Rotondo, Gastroenterology/Hepatology Pr. Bruno Dallapiccola, Rome, Genetics Pr. Roberto Foà, Rome, Hematology Pr. Ferdinando Dianzani, Rome, Infectious diseases Pr. Sebastiano Filetti, Rome, Internal Medicine/Rheumatology Dr. Carlo Dionisi-Vici, Rome, Metabolic diseases Pr. Gianfranco Rizzoni, Rome, Nephrology Dr. Enza Maria Valente, Rome, Neurology Dr Enrico Bertini, Rome, Neuromuscular disorders Pr. Francesco Guzzetta, Rome, Neuropediatric diseases Pr. Lucio Luzzatto, Genoa, Oncology Pr. Rosario Brancato, Milan, Ophtalmology Pr. Gregorino Paone, Rome, Pneumology Scientific Advisory Committee for Spain Dra Susan Webb, Barcelona, Endocrinology Dr. Angel Carrascosa, Barcelona, Pediatric Endocrinology Dra. Teresa Pampols, Barcelona, Metabolic diseases Dr Luis Alberto Pérez Jurado, Barcelona, Medical Genetics Dr. Ramón Pujol Vallverdú, Barcelona, Dermatology Dr. Jaime Campos Castelló, Madrid, Neuropediatrics Pr Jorge de las Heras, Madrid, Bone dysplasias Pr Rafael Fernández Delgado, Valencia, Oncology Pr Joseph Font, Barcelona, Internal Medicine/Rheumatology Pr Juan Tovar, Madrid, Pediatric surgery Dr. Jose Castellote Alonso, Barcelona, Gastroenterology and hepatology (adult) Dr. Gerardo Prieto, Madrid, Pediatric Gastroenterology Dr. Miguel Lopez-Botet, Barcelona, Immunology


Dr. Jose Mascaró, Barcelona, Dermatology 2.3 Inclusion of a new partner: Portugal Portugal is the new partner of Orphanet in 2003. As for previous partners, its first task was to translate in Portuguese all the 7,000 disease names included in the database and all the thesaurus, forms, information sheets included in the website (3 months of work). The second task was to keep in touch with patients organisations, clinical centers and laboratories. Questionnaires were sent out. Up to now 20 support groups have filled in the submission form, as welle as 6 specialised clinics. The process of nominating scientific advisory committee members is in progress. The main learning societies have been approached to nominate a representative. ORPHANET was referred in a presentation by Dra. Margarida Reis Lima in the firs Rare Diseases Congress organized by one of the rare diseases associations in Portugal (Raríssimas: http://www.rarissimas.org). 2.4 Current content of the database of services The current version of the database includes information on specialized clinics, clinical labs, research projects and patients organization. The content of the database as of 15 May 2003 is: - Number of clinical laboratories ........................................................................ 582 - Number of diseases with a diagnostic test ........................................................ 657 - Number of research programmes ................................................................... 1392 - Number of disease with a research programme ............................................... 917 - Number of types of clinics ............................................................................... 131 - Number of highly specialised clinics................................................................ 945 - Number of support groups ............................................................................... 594 - Number of diseases linked to support groups ................................................ 1280 - Number of support groups with a website ........................................................ 392 - Number of website hosted by ORPHANET ...................................................... 62 - Number of professionals cited 3506 3- Dissemination of results 4.1 Statistics of the server The usefulness of the database was supposed to be done through the number of connections per day, number of different sites, number of countries, length of connections, types of request and analysis of messages received. The number of connections is increasing regularly as shown on the following figures:


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The current website is visited every day by 3,500 different people from over 110 countries. 4.2 List of invited conferences given by Orphanet partners:

Conference by Ségolène Aymé about Orphanet: « Rare disease programmes at the EU level » European meeting on Amyotrophic Lateral Sclerosis, Reisensburg, Germany, 1 February 2003 « Maladies rares : un enjeu de santé publique »


2es assises des maladies orphelines de Midi-Pyrénées, Toulouse 15 Février 2003 "Enfermedades Raras en Europa: De la realidad actual a las soluciones" Universitat Pompeu Fabra, Barcelona, Spain, 27 Fevrier 2003 « Information services in the area of rare diseases » Annual meeting of the European Society for Clinical Investigation » Verona, Italy. 3 April 2003 « Orphanet : a database of services in Europe » Workshop « Genetic services in the EU », Sevilla, Spain. 8 April 2003 « Les enjeux de l’information pour les maladies rares » Colloque sur les maladies orphelines. Convention Démocrate. Assemblée Nationale Paris. 11 Avril 2003

5- Partnership with othe European Rare Disease Projects Orphanet has established a partnership with two other projects which are financially supported by DG Sanco: Eurocat and the Eurordis project. Eurocat is a European registry of congenital anomalies in Europe. Individually all malformations are rare. Orphanet website gives access to Eurocat website at the malformation level (direct interfacing). Eurordis is an umbrella organisation of patient support groups. It is developping a website to provide reliable information to European citizens on its action and on any relevant issue. Eurordis and Orphanet have explored the possible overlap in their action , in order to share what is shareable and benefit from the other organisation expertise. The data collection about patient support groups will be performed in common. Orphanet is hosting Eurordis website. Static pages which are of common interest will be co-branded to avoid duplication of efforts. 6- Grant application

A EU grant application (SSA) was introduced at DG Research (first call FP6). It is called “OrphanPlatform”. It aims at developping Orphanet to better serve the research community. A grant was obtained from LEEM (Les Entreprises du Médicament) to better document the drug section in Orphanet. A grant application was introduced at DG SANCO to extent the Orphanet network to 19 countries. 6- Conclusion The Orphanet project is developing according to the plans. The first year was a very busy one which permitted to explore all the difficulties for transmitting our five-year experience with data collection. The procedures are now well in place and should be easily adopted by the new partners. The experience also clearly showed to the partners that there was a great need in getting national funding to expand the local teams. Several countries are on the way of having



complementary funding and two of them are already supported at the National level: Italy and Spain.. Many more countries would like to join, especially countries from eastern Europe. We are willing to incorporate them into the network if the corresponding funding is obtained.

This report was produced by a contractor for Health & Consumer Protection Directorate General and represents the views of thecontractor or author. These views have not been adopted or in any way approved by the Commission and do not necessarilyrepresent the view of the Commission or the Directorate General for Health and Consumer Protection. The EuropeanCommission does not guarantee the accuracy of the data included in this study, nor does it accept responsibility for any use madethereof.

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