Articles & News Stories

Relevant sources for orphan disease prevalence data

Published
of 29
All materials on our website are shared by users. If you have any questions about copyright issues, please report us to resolve them. We are always happy to assist you.
Related Documents
Share
Description
16 December 2014 EMA/452415/2012 Rev. 1 1 Human s Research and Development Support Sponsors applying for orphan for a medicine under Article 3(1) a paragraph 1 of Regulation (EC) No 141/2000 on orphan
Transcript
16 December 2014 EMA/452415/2012 Rev. 1 1 Human s Research and Development Support Sponsors applying for orphan for a medicine under Article 3(1) a paragraph 1 of Regulation (EC) No 141/2000 on orphan medicinal products are requested to provide authoritative references to demonstrate that condition, for which medicine is intended, does not affect more than 5 in 10,000 people in EU at time application is made. Possible sources include relevant scientific literature and databases. After more than 10 years of implementation of Orphan Regulation Agency has accumulated a considerable amount of data on sources of prevalence of rare diseases from applications for orphan. In most cases those sources are publicly available but not easily accessible. The Agency has decided to make information collected so far publicly available. This will decrease administrative burden for applicants for orphan and thus encourage development of medicines for rare diseases. The information is provided in table below will be updated regularly. The information provided herewith does not replace obligation for sponsor under legislation to establish prevalence (see Regulation (EC) No 141/2000 and Guideline on format and content of applications for as orphan medicinal product, ENTR/6283/00). Sponsors are still obliged to submit an original, up-to-date prevalence calculation supported by data with ir orphan application. In Points to consider on calculation and reporting on prevalence of a condition for orphan, COMP/436/01, Agency provides guidance for sponsors in establishing prevalence for conditions and suggests sources of data, review methods and how to present results. Of note, references cited are not intended to substitute any epidemiological review of prevalence of rare diseases and y have to be assessed by Committee for Orphan Medicinal Products (COMP) in regulatory context of orphan medicinal product. In this sense, it has to be stressed that sometimes conclusions adopted reflect worst case scenarios that are adequate for regulatory purposes. It must also be emphasised that prevalence that sponsor is required to demonstrate is prevalence at time of application for orphan, whereas prevalence can change over time. If you have any comments on table on prevalence sources do not hesitate to contact us on 1 Updated format, footer and links 30 Churchill Place Canary Wharf London E14 5EU United Kingdom Telephone +44 (0) Facsimile +44 (0) Send a question via our website An agency of European Union European s Agency, Reproduction is authorised provided source is acknowledged. Acromegaly 0.6 Publications: Alexander, L., et al., Epidemiology of acromegaly in Newcastle region. Clin. Endocrinol (Oxf), 1980;12(1):71-9 Bengtsson, B.A., et al., Epidemiology and long-term survival in acromegaly. A study of 166 cases diagnosed between 1955 and Acta. Med. Scand., 1988;223(4): Ritchie, C.M., et al., Ascertainment and natural history of treated acromegaly in Norrn Ireland. Ulster Med. J., 1990;59(1):55-62 Extabe, J., et al., Acromegaly: an epidemiological study. J. Endocrinol Invest., 1993;16(3):181-7 Somavert EU/1/02/240 EMEA/H/C/ pegvisomant Acute lymphoblastic leukaemia 0.4 Publications: Greaves M. Childhood leukaemia. BMJ 2002;324(7332):283-7 Pui CH, Mahmoud HH, Rivera GK, Hancock ML, Sandlund JT, Behm FG et al. Early Intensification of Intracal Chemorapy Virtually Eliminates Central Nervous System Relapse in Children With Acute Lymphoblastic Leukemia. Blood 1998;92(2):411-5 EUCAN, GLOBOCAN 2000 and WHO Cancer Mortality data, Automated Childhood Cancer Information System -ACCIS-, and French National Registry of childhood Leukemia and Lymphoma Evoltra EU/1/06/334 EMEA/H/C/ clofarabine Acute myeloid leukaemia 0.7 Publications: Redaelli A, Lee JM, Stephens JM and Pashos CL. Epidemiology and Ceplene EU/1/08/477 EMEA/H/C/ histamine dihydrochloride EMA/452415/2012 Rev. 1 1 Page 2/29 clinical burden of acute myeloid leukaemia. Expert Rev. Anticancer Ther. 2003; 3(5): Redaelli A, Stephens JM, Laskin BL, Pashos CL and Botteman MF. The burden and outcomes associated with four leukemias AML, ALL, CLL and CML. Expert Rev. Anticancer Ther. 2003; 3(3): Järvisalo J, Tola S, Korkala M-L and Järvinen E. A cancer registerbased case study of occupations of patients with acute myeloid leukaemia. Cancer 1984; 54: Langebrake C, Reinhardt D and Ritter J. Minimising Long-Term Adverse Effects of Childhood Leukaemia. Therap. Drug Safety 2002; 25(15): Aul C, Gattermann N and Schneider W. Age-related incidence and or epidemiological aspects of myelodysplastic syndromes. British Journal of Haematology 1992; 82: Pagano L, Polsoni A, Tosti ME, Avvisati G, Mele L, Mele A et al. Clinical and biological features of acute myeloid leukaemia occurring as second malignancy: GIMEMA archive of adult acute leukaemia. British Journal of Haematology 2001; 112: Pulsoni A, Stazi A, Cotichini R, Allione B, Cerri R, di Bona E et al. Acute promyelocytic leukaemia: epidemiology and risk factors. A report of GIMEMA Italian archive of adult acute leukaemia. Eur J Haematol 1998; 61: Preiss BS, Kerndrup GB, Schmidt KG, Sørensen AG, Clausen NT, Gadeberg OV et al. Cytogenetic findings in adult de novo acute myeloid leukaemia. A population-based study of 303/337 patients. EMA/452415/2012 Rev. 1 1 Page 3/29 British Journal of Haematology 2003; 123: Aström M, Bodin L, Nilsson I and Tidefelt U. Treatment, long-term outcome and prognostic variables in 214 unselected AML patients in Sweden. British Journal of Cancer 2000; 82(8): Rådlund A, Thiede T, Hansen S, Carlsson M, Engquist L. Incidence of myelodysplastic syndromes in a Swedish population. Eur J Haematol 1995; 54: Hjalgrim LL, Rostgaard K, Schmiegelow K, Søderhăll S, Kolmannskog S, Verrenranta K et al. Age- and Sex-Specific Incidence of Childhood Leukemia by Immunophenotype in Nordic Countries. J Natl Cancer Inst. 2003; 95(20): Coebergh JW, van Steensel-Moll HA, Van Wering ER, van't Veer MB. Epidemiological and immunological characteristics of childhood leukaemia in The Nerlands: population-based data from a nationwide co-operative group of paediatricians. Leuk Res.1985;9(6):683-8 van Steensel-Moll HA, Valkenburg HA, van Zanen GE.. Incidence of childhood leukaemia in The Nerlands ( ). Br J Cancer Apr;47(4):471-5 McNally RJQ, Roman E and Cartwright RA. Leukemias and lymphomas: time trends in UK, Cancer Causes and Control 1999;10:35-42 McNally RJQ, Rowland D, Roman E and Cartwright RA. Age and sex distributions of haematological malignancies in UK. Haematological Oncology 1997; 15: EMA/452415/2012 Rev. 1 1 Page 4/29 McNally RJQ, Cairns DP, Eden OB, Kelsey AM, Taylor GM and Birch JM. Examination of temporal trends in incidence of childhood leukaemias and lymphomas provides aetiological clues. Leukemia 2001; 15: Jemal A, Tiwari RC, Murray T, Ghafoor A, Samuels A, Ward E, Feuer EJ, Thun MJ; American Cancer Society. Cancer statistics, CA Cancer J Clin. 2004; 54(1):8-29 Kelleher C, Newell J, MacDonagh-White C, MacHale E, Egan E, Connolly E et al. Incidence and occupational pattern of leukaemias, lymphomas, and testicular tumours in Western Ireland over an 11 year period. J Epidemiol Community Health 1998; 52: S Schlieben, A Borkhardt, I Reinisch, J Ritterbach, JWG Janssen, R Ratei et al. Incidence and clinical outcome of children with CR/ABLpositive acute lymphoblastic leukaemia (ALL). A prospective RT-PCR study based on 673 patients enrolled in German pediatric multicenter rapy trials ALL-BFM-90 and CoALL Leukemia 1996; 10: Taylor PRA, Reid MM, Brown N, Hamilton PJ, and Proctor SJ. Acute lymphoblastic leukemia in patients aged 60 years and over: A population-based study of incidence and outcome. Blood 1992; 80(7): Groupe Francais de Morphologie Hematologique. Age distribution and hemogram analysis of 4496 cases recorded during and classified according to FAB criteria. Cancer 1987; 60: Sant M, Aareleid T, Berrion F, Bielska Lasota M, Carli PM, Faivre J, EMA/452415/2012 Rev. 1 1 Page 5/29 rosclaude P et al. Eurocare-3: survival of cancer patients diagnosed results and commentary. Annals of Oncology 2003; 14(Supplement 5): v61-v118 Capocaccia R, Colonna M, Carazzuari I, De Angelis R, Francisci S, Micheli A et al. Measuring cancer prevalence in Europe: EUROPREVAL Project. Annals of Oncology 2002; 13: Micheli A, Mugno E, Krogh V, Quinn MJ, Coleman M, Hakulinen T et al. Cancer pervalence in European registry areas. Annals of Oncology 2002; 13: Clavel J, Goubin A, Auclerc MF, Auvrignon A, Waterkeyn C, Patte C, et al. Incidence of childhood leukaemia and non-hodgkin s lymphoma in France: National registry of childhood leukaemia and lymphoma, Eur J Cancer Prev. 2004; 13(2): Acute promyelocytic leukaemia 0.80 Publications: Black, R.J., F. Bray, J. Ferlay, and D.M. Parkin. Cancer incidence and mortality in European Union: cancer registry data and estimates of national incidence for Eur. J. Cancer, 1997; 33: Lusis, M.K.P., C. Machado, A.E. Brito, D. Tabak, and M.S.P. de Oliveira. Leucemia M3 variante: aspectos clínicos e diagnósticos. Rev. Ass. Med. Brasil., 1993; 39: Pulsoni, A., A. Stazi, R. Cotichini, B. Allione, R. Cerri, E. Di Bona, A.M. Nosari, L. Pagano, A. Recchia, M. Ribersani, L. Rocchi, D. Veneri, G. Visani, F. Mandelli, and A. Mele. Acute promyelocytic leukaemia: epidemiology and risk factors. A report of GIMEMA Trisenox EU/1/02/204 EMEA/H/C/ arsenic trioxide EMA/452415/2012 Rev. 1 1 Page 6/29 Italian archive of adult acute leukaemia. Eur. J. Haematol.,1998; 61: Finnish Cancer Registry. Helsinki, Finland: Institute for Statistical and Epidemiological Cancer Research, The cell type distribution of leukaemias diagnosed by sex Swedish Medical Database. Stockholm, Sweden: Medicinsk Faktadatabas - MARS, Acute, adult, leukaemia registry (In Swedish) Adrenal cortical carcinoma 0.1 Publications: Kopf D, Goretzki PE, Lehnert H: Clinical management of malignant adrenal tumors: J. Cancer Res Clin Oncol 2001;127: Wooten MD, King DK: Adrenal cortical carcinoma, epidemiology and treatment with mitotane and a review of literature. Cancer 1993; 72(11): Orphanet Lysodren EU/1/04/273 EMEA/H/C/ mitotane Anthracycline extravasation 0.03 (incidence) Publications: Laughlin RA, Landeen JM, Habal MB. The management of inadvertent subcutaneous adriamycin infiltration. Am J Surg 1979; 137: Linder RM, Upton J. Prevention of extravasation injuries secondary to doxorubicin. Postgrad Med 1985; 77(4):105-9 Larson DL. Treatment of tissue extravasation by antitumor agents. Cancer 1982; 49(9): Savene EU/1/06/350 EMEA/H/C/ dexrazoxane EMA/452415/2012 Rev. 1 1 Page 7/29 Wang JJ, Cortes E, Sinks LF, Holland JF. Therapeutic effect and toxicity of adriamycin in patients with antineoplastic disease. Cancer 1971; 28: Pitkanen J, Asko Seljavaara S, Grohn P, Sundell B, Heinonen E, Appelqvist P. Adriamycin extravasation: surgical treatment and possible prevention of skin and soft-tissue injuries. J Surg Oncol 1983; 23(4): Bertelli G, Gozza A, Forno GB, Vidili MG, Silvestro S, Venturini M et al. Topical dimethylsulfoxide for prevention of soft tissue injury after extravasation of vesicant cytotoxic drugs: a prospective clinical study. J Clin Oncol 1995; 13(11): Barlock AL, Howser DM, Hubbard SM. Nursing management of Adriamycin extravasation. Am J Nursing 1979; 137:94-96 Or sources: IMS data for sales of packages of 5 different anthracyclines in 1997 Personal communications from experts Chronic iron overload 2.7 Publications: Ferlay J, Autier P, Boniol M, Heanue M, Colombet M, Boyle P. Estimates of Cancer Incidence and Mortality in Europe in Ann Oncol. 2007; 18(3): Ferlay J, Boyle P, Cancer Incidence and Mortality in Europe, Ann Oncol 2005; 16; Ferlay J, Bray F, Pisani P, Parkin DM. Cancer incidence, mortality and Exjade EU/1/06/356 EMEA/H/C/ deferasirox EMA/452415/2012 Rev. 1 1 Page 8/29 prevalence worldwide, version 1.0. Lyon: IARC Press. IARC Cancer Base No Pisani, P., Bray, F., Parkin, D.M. Estimates of worldwide prevalence of cancer for twenty-five sites in adult population. Int. J. Cancer 2002; 97,72-81 Ferlay J, Bray F, Sankila R, et al. Cancer incidence, mortality and prevalence in European Union. Lyon: IARC Press GLOBOCAN 2002 Chronic idiopathic thrombocytopenic purpura 1 Publications: Jacobson DL, Gange SJ, Rose NR, Graham NMH, Epidemiology and estimated population burden of selected autoimmune diseases in United States. Clin Immunol Immunopathol, 1997; 84(3): Satia J, Acquavella J, Hollowell J, Rutstein, Descriptive epidemiology of immune thrombocytopenic purpura in three European countries. The 11th Congress of European Hematology Association. Amsterdam: [poster presentation]; 2006 Segal JB, Powe NR, Prevalence of immune thrombocytopenia: analyses of administrative data. J Thromb Haemost., 2006; 4: Revolade EU/1/10/612 EMEA/H/C/ eltrombopag Chronic myelogenous leukaemia 0.4 Publications: Hasford J, Pfirrmann M, Hehlmann R, et al. A new prognostic score for survival of patients with chronic myeloid leukemia treated with Tasigna EU/1/07/422 EMEA/H/C/ nilotinib EMA/452415/2012 Rev. 1 1 Page 9/29 interferon alpha. J Natl Cancer Inst 1998;90(11):850-8 Marin D, Marktel S, Szydlo R, Klein JP, Bua M, Foot N, Olavarria E, Shepherd P, Kanfer E, Goldman JM, Apperley JF. Survival of patients with chronic- phase chronic myeloid leukemia on imatinib after failure on interferon alpha. Lancet 2003; 362(9384):617-9 GLOBOCAN 2002 Chronic myeloid leukaemia 0.9 EUCAN; supported by data from EUROCARE-2 Glivec EU/1/01/198/ EMEA/H/C/ imatinib Conditioning treatment prior to conventional haematopoietic progenitor cell transplantation 0.6 to 0.7 Publications: A. Gratwohl, H. Baldomero. EBMT survey on Transplant activity Basel 2000 Apperley J, Gluckman E, Gratwohl A. Blood and Marrow Transplantation. ESH (European School of Hematology) and EBMT, 1998, p Gratwohl A, Schmid O, Baldomero H, Horisberger B, Urbano-Ispizua A; Accreditation Committee of European Group for Blood and Marrow Transplantation. Haematopoietic stem cell transplantation (HSCT) in Europe Changes in indication and impact of team density. A report of EBMT activity survey.bone Marrow Transplant. 2004;34(10): Busilvex Tepadina EU/1/03/254 EMEA/H/C/ EU/1/10/622 EMEA/H/C/ busulfan thiotepa EMA/452415/2012 Rev. 1 1 Page 10/29 Cryopyrin-Associated Periodic Syndromes (CAPS), including Familial Cold Autoinflammatory Syndrome (FCAS) and Muckle-Wells Syndrome (MWS) 0.05 Publications: Cuisset L, Drenth JPH, Derlop JM. Meyrier A, Vaudour G, Watts RA et al. Genetic linkage of Muckle-Wells Syndrome to chromosome 1q44. Am. J. Hum Genet : Gerbig AW, Dahinden CA, Mullis P and Hunziker T. Circadian elevation of IL-6 levels in Muckel-Wells syndrome: a disorder of neuro-immune axis? Q J Med : Haas N, Küster W, Zuberbie r T, Henz BM. Muckle-Wells syndrome: clinical and histological skin findings compatible with cold air urticaria in a large kindred. Br J Dermatol 151 (1), Orphanet: Hoffman, HM. Familial Cold Autoinflammatory Syndrome. Orphanet Encyclopedia. Grateau, G. Muckle-Wells syndrome: Orphanet Encyclopedia Rilonacept Regeneron EU/1/09/582 EMEA/H/C/ rilonacept Cystic fibrosis 1.3 Cystic Fibrosis Foundation. Cystic Fibrosis Foundation Patient Registry Annual Data Report Kerem E, Reisman J, Corey M, Canny GJ, Levison H. Prediction of mortality in patients with cystic fibrosis. N Engl J Med 1992;326(18): Doring G, Conway SP, Heijerman HG, et al. Antibiotic rapy against Pseudomonas aeruginosa in cystic fibrosis: a European consensus. Eur Respir J 2000;16(4): Rothman K, Greenland S. Modern Epidemiology. 2nd ed: Lippincott, Williams & Wilcott, 1998: 43-4 Bellon, G. (2006). About rare diseases - About orphan drugs - Disease: Cystic fibrosis. Orphanet Cayston EU/1/09/543 EMEA/H/C/ aztreonam lysine EMA/452415/2012 Rev. 1 1 Page 11/29 Slieker, M. G., C. S. Uiterwaal, et al. (2005). Birth prevalence and survival in cystic fibrosis: a national cohort study in Nerlands. Chest 128(4): WHO (2002). The molecular genetic epidemiology of cystic fibrosis. Human Genetics Programme - Chronic Diseases and Health Promotion. W. H. Organization. Genoa Claustres, M., C. Guittard, et al. (2000). Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of vas deferens in France. Hum Mutat 16(2): Orphanet (2007). Prevalence of rare diseases: A bibliographic survey. Orphanet Reports Series. Orphanet Fabry disease (agalactosidase A deficiency) 0.03 Publications: Davies JP, Eng CM, Hill JA, Malcolm S, MacdDermot K, Winchester B, Desnick RJ Fabry Disease: Fourteen α-galactosidase A mutations in unrelated families from united kingdom and or european countries.european Journal of Human Genetics 1996; 4: Poorthuis, BJHM; Wevers, RA; Kleijer, WJ; Groener, JEM; de Jong, JGN; Van Weely, S; Niezen-Koning, KE; Van Diggelen, OP: The frequency of lysosomal storage disease in The Nerlands. Hum Gen Fabrazyme EU/1/01/188 EMEA/H/C/ agalsidase beta EMA/452415/2012 Rev. 1 1 Page 12/29 1999; 105: Desnick, R.J., Ioannou, Y.A., and Eng, C.M. α-galactosidase A Deficiency: Fabry Disease in The Metabolic and Molecular Bases of Inherited Disease, 7th edition, C.R. Scriver, W.S. Sly, and D. Valle (eds), McGraw-Hill (New York, 1995). pp Meikle, P.J. et al. Prevalence of Lysosomal Disorders. JAMA 1999; 281: Replagal EU/1/01/189 EMEA/H/C/ agalsidase alfa Gaucher disease 0.3 to 0.6 Publications: Beutler E and Grabowski GA, Gaucher Disease in; The Metabolic and Molecular Basis of Inherited Diseases, (Eds. Seriver CR, Beaudet Al, Sly WS and Valle D), p , McGraw Hill, New York, 1995 Cox T M and Schofield J P, Gaucher s disease: clinical features and natural history in; Ballière s Clinical Haematology, (Ed. A Zimran) Vol Zavesca EU/1/02/238 EMEA/H/C/ miglustat EMA/452415/2012 Rev. 1 1 Page 13/29 10, No. 4 pp , Dec 1997 Erikson A et al, Neuronopathic forms of Gaucher s disease in; Ballière s Clinical Haematology, (Ed. A Zimran) Vol 10, No. 4 pp , Dec 1997 Beutler E, Gaucher Disease, Advances in Genetics, 1995; 32: Bembi B et.al., Enzyme replacement treatment in type 1 and type 3 Gaucher s disease. Lancet, 1994; 344: Beutler et.al., Failure of Alglucerase Infused into Gaucher Disease Patients to Localize in Marrow Macrophages. Molecular, 1995; 1 (3): , 1995 Belmatoug N, Caubel I, Stirnemann J, Billette de Villemeur T. Gaucher s disease, J Soc. Biol. 2002; 196: Giraldo P, Pocovi M, Perez-Calvo J, Rubio-Felix D, Giralt M. Report of Spanish Gaucher s disease registry: clinical and genetic characteristics. Haematologica 2000; 85: Pregun I, Tulassay Z. Gaucher s disease: pathogenesis, diagnosis and rapy. Orv Hetil 2004; 145: Vpriv EU/1/10/646 EMEA/H/C/ velaglucerase alfa Niemann Pick 0.1 Publications: Sokol J, Blanchetter-Mackie J, Kruth HS, et al. Type C Niemann-Pick disease. Lysosomal accumulation and defective intracellular mobilization of low density lipoprotein cholesterol. J Biol Chem 1988; 263: Steinberg SJ, Ward CP, Fensom AH. Complementation studies in Niemann-Pick disease, type C indicate existence of a second Zavesca EU/1/02/238 EMEA/H/C/ Miglustat EMA/452415/2012 Rev. 1 1 Page 14/29 group. J Med Genet 1994; 31: Suzuki K, Parker CC, Pentchev PG, et al. Neurofibrillary tangles in Niemann-Pick disease, type C. Acta Neuropathol 1995; 89: Tylki-Szymanska A, Czartoryska B, Lugowska A, Gorska D. The prevalence and diagnosis of lysosomal storage diseases in Poland. Eur J Pediatr 2001; 160: Vanier MT, Dul S, Rodriguez-Lafrasse C, et al. Genetic heterogeneity in Niemann-Pick disease: a study using somatic cell hybridization and linkage analysis. Am J Hum Genet 1996; 58: Vanier MT, Suzuki K. Niemann-Pick diseases. In: Moser HW (editor). Neurodystrophies and neurolipidoses. Handbook of Neurology. Vol. 66. Amsterdam: Elsevier Science, 1996; Vanier MT. Lipid changes in Niemann-Pick disease, type C brain: personal experience and review of literature Neurochem Res 1999; 24: Walkley 1998 Pinto R, Caseiro C, Lemos M, et al. Prevalence of lysosomal storage diseases in Portugal. Eur J Hum Genet 2004; 12: Poorthuis BJ
Search
Related Search
We Need Your Support
Thank you for visiting our website and your interest in our free products and services. We are nonprofit website to share and download documents. To the running of this website, we need your help to support us.

Thanks to everyone for your continued support.

No, Thanks