Knowledge and therapeutic gaps: A public health problem in the rare coagulation disorders population

American Journal of Preventive Medicine

Volumn 41, Issue 6 SUPPL.4, 2011, Pages

  Shapiro, Amy D ^a   Soucie, J Michael ^b   Peyvandi, Flora ^e   Aschman, Diane J ^c   Dimichele, Donna M ^d  

^a INDIANA HEMOPHILIA AND THROMBOSIS CENTER   (United States)

^b NATIONAL CENTER ON BIRTH DEFECTS AND DEVELOPMENTAL DISABILITIES   (United States)

^c American Thrombosis and Hemostasis Network   (United States)

^d NATIONAL HEART LUNG AND BLOOD INSTITUTE   (United States)

^e UNIVERSITY OF MILAN   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA 2 ANTIPLASMIN; ANTITHROMBIN III CONCENTRATE; BLOOD CLOTTING FACTOR 10; BLOOD CLOTTING FACTOR 10 CONCENTRATE; BLOOD CLOTTING FACTOR 11; BLOOD CLOTTING FACTOR 12; BLOOD CLOTTING FACTOR 13 CONCENTRATE; BLOOD CLOTTING FACTOR 5; BLOOD CLOTTING FACTOR 7; FIBRINOGEN; HUMAN FIBRINOGEN CONCENTRATE; HUMAN PROTEIN C CONCENTRATE; ISOPHANE INSULIN; PLASMINOGEN; PROTEIN C; PROTHROMBIN; RECOMBINANT PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; BLOOD CLOTTING DISORDER; BLOOD CLOTTING FACTOR 10 DEFICIENCY; BLOOD CLOTTING FACTOR 11 DEFICIENCY; BLOOD CLOTTING FACTOR 12 DEFICIENCY; BLOOD CLOTTING FACTOR 5 DEFICIENCY; BLOOD CLOTTING FACTOR 7 DEFICIENCY; CLINICAL RESEARCH; CLINICAL TRIAL (TOPIC); CONSANGUINITY; DRUG SAFETY; FIBRINOGEN DEFECT; FULMINATING PURPURA; HEALTH CARE DELIVERY; HEALTH CARE PERSONNEL; HEALTH CARE SYSTEM; HEALTH EDUCATION; HEALTH SERVICE; HEMOPHILIA; HUMAN; MORBIDITY; MORTALITY; PATIENT CARE; PATIENT EDUCATION; PATIENT IDENTIFICATION; PATIENT MONITORING; POSTMARKETING SURVEILLANCE; PROTEIN C DEFICIENCY; PROTHROMBIN DEFICIENCY; PUBLIC HEALTH PROBLEM; THROMBOCYTE ANOMALY; WEB BROWSER;

EID: 81355142674     PISSN: 07493797     EISSN: 18732607     Source Type: Journal    
DOI: 10.1016/j.amepre.2011.09.021     Document Type: Review

References (40)

1. Rare Diseases Act of 2002, Pub. L. No. 107280, 116 Stat. (November 6, 2002). frwebgate.access.gpo.gov/cgi-bin/getdoc.cgi?dbname=107-cong-public- laws&docid=f:publ280.107.
2. Council recommendation of 8 June 2009 on an action in the field of rare diseases. Official J Eur Union 2009;Jul 3:C 151/710.
3. A. Schieppati, J.I. Henter, E. Daina, and A. Aperia Why rare diseases are an important medical and social issue Lancet 371 9629 2008 2039 2041 (Pubitemid 351799861)
4. USDHHS, Office of the Assistant Secretary for Health Report of the National Commission on Orphan Diseases 1989 Office of the Assistant Secretary for Health Rockville MD
5. M.E. Haffner Adopting orphan drugs: two dozen years of treating rare diseases N Eng J Med 354 2006 445 447 (Pubitemid 43200295)
6. M.E. Haffner, J. Whitley, and M. Moses Two decades of orphan product development Nat Rev Drug Discov 1 10 2002 821 825 (Pubitemid 37361565)
7. EMEA/COMP Report to the Commission in relation to article 10 of regulation 141/2000 on orphan medicinal products Doc Ref. EMEA/35218/2005 Final 2005 European Medicines Agency/Committee for Orphan Medicinal Products (EMEA/COMP) London, UK
8. A. Fehr, P. Thurmann, and O. Razum Editorial: drug development for neglected diseases: a public health challenge Tropical Med Int Health 11 2006 1335 1338 (Pubitemid 44289719)
9. N. Dentico, and N. Ford The courage to change the rules: a proposal for an essential health R&D treaty PLoS Med 2 2005 e14
10. WHO Expert Committee The selection and use of essential medicines World Health Organ Tech Rep Ser 958 2009 1 242
11. WHO Expert Committee on the Selection and Use of Essential Medicines The selection and use of essential medicines: report of the WHO Expert Committee 2002 2003 World Health Organization Geneva, Switzerland
12. P. Stolk, M.J.C. Willemen, and H.G.M. Leufkens "Rare essentials": drugs for rare diseases as essential medicines Bull WHO 84 2006 745 751 (Pubitemid 44482401)
13. M. Drummond, B. Evans, and J. LeLolier Evidence and values: requirements for public reimbursement of drugs for rare diseases: a case study in oncology Can J Clin Pharmacol 16 2009 e273 e281
14. F. Peyvandi, R. Palla, M. Menegatti, and P.M. Mannucci Introduction: rare bleeding disorders: general aspects of clinical features, diagnosis, and management Semin Thromb Hemost 35 2009 349 355
15. S.S. Acharya, A. Coughlin, and D.M. Dimichele North American Rare Bleeding Disorder Study Group Rare Bleeding Disorder Registry: Deficiencies of factors II, V, VII, X, XIII, fibrinogen and dysfibrinogenemias J Thromb Haemost 2 2 2004 248 256 (Pubitemid 40186038)
16. E.G.D. Tuddenham, and D.N. Cooper The molecular genetics of haemostasis and its inherited disorders 1994 Oxford Medical Publications Oxford, UK (Oxford Monography on Medical Genetics No. 25)
17. G. Toogeh, R. Sharifian, M. Lak, R. Safaee, A. Artoni, and F. Peyvandi Presentation and pattern of symptoms in 382 patients with Glanzmann thrombasthenia in Iran Am J Hematol 77 2 2004 198 199 (Pubitemid 39281870)
18. M. Lak, R. Sharifian, F. Peyvandi, and P.M. Mannucci Symptoms of inherited factor V deficiency in 35 Iranian patients Br J Haematol 103 4 1998 1067 1069 (Pubitemid 29012645)
19. F. Peyvandi, E.G. Tuddenham, A.M. Akhtari, M. Lak, and P.M. Mannucci Bleeding symptoms in 27 Iranian patients with the combined deficiency of factor V and factor VIII Br J Haematol 100 4 1998 773 776 (Pubitemid 28126114)
20. F. Peyvandi, and P.M. Mannucci Rare coagulation disorders Thromb Haemost 82 4 1999 1207 1214 (Pubitemid 29473778)
21. R. Mehta, and A.D. Shapiro Plasminogen deficiency Haemophilia 14 6 2008 1261 1268
22. N.A. Goldenberg, and M.J. Manco-Johnson Protein C deficiency Haemophilia 14 6 2008 1214 1221
23. M.W. Skinner Treatment for all: a vision for the future Haemophilia 12 S3 2006 169 173
24. E.L. Saenko, N.M. Ananyeva, M. Shima, C.A. Hauser, and S.W. Pipe The future of recombinant coagulation factors J Thromb Haemost 1 5 2003 922 930
25. R. Capto, N. Pucci, F. Mori, J. Secci, E. Novembre, and R. Frosini Long-term efficacy of surgical removal of pseudomembranes in a child with ligneous conjunctivitis treated with plasminogen eye drops Thromb Haemost 100 2008 1196 1198
26. FDA Developing Products for Rare Diseases and Conditions www.fda.gov/ForIndustry/DevelopingProductsforRareDiseasesConditions/default.htm 2011
27. National Hemophilia Foundation MASAC Recommendation #174; recommendations regarding rare coagulation factor disorders http://www.hemophilia.org/NHFWeb/ Resource/StaticPages/menu0/menu5/menu57/174.pdf October 2006
28. J.M. Soucie, S. McAlister, A. McClellan, M. Oakley, and Y. Su The universal data collection surveillance system for rare bleeding disorders Am J Prev Med 38 4S 2010 S475 S481
29. F. Peyvandi, and M. Spreafico National and international registries of rare bleeding disorders Blood Transfus 6 S2 2008 S45 S48
30. European Network of Rare Bleeding Disorders- Partners http://www.rbdd.eu/link.htm
31. Haemophilia 14 6 2008 1151 1280
32. C. Torres Rare opportunities appear on the horizon to treat rare diseases Nat Med 16 3 2010 241
33. FDA Fractionated Plasma Products www.fda.gov/BiologicsBloodVaccines/ BloodBloodProducts/ApprovedProducts/LicensedProductsBLAs/ FractionatedPlasmaProducts July 2011
34. S. Toussaint, and H. Gerlach Activated protein C for sepsis N Engl J Med 361 27 2009 2646 2652 31
35. G. Houston, and B.H. Cuthbertson Activated protein C for the treatment of severe sepsis Clin Microbiol Infect 15 4 2009 319 324
36. F. Baratto, F. Michielan, M. Meroni, A. Dal Pal, A. Boscolo, and C. Ori Protein C concentrate to restore physiological values in adult septic patients Intensive Care Med 34 9 2008 1707 1712
37. U. Hedner History of rFVIIa therapy Thromb Res 125 S1 2010 s4 s6
38. J.H. Levy, R. Gill, and N.A. Nussmeier Repletion of factor XIII following cardiopulmonary bypass using a recombinant A-subunit homodimer A preliminary report Thromb Haemost 102 4 2009 765 771
39. M.J. Field, and T.F. Boat Rare disease and orphan products: accelerating research and development Institute of Medicine of the National Academies October 2010 The National Academies Press Washington DC www.iom.edu/rarediseaseresearch
40. G. Lavine Orphan Drug Act passes quarter-century milestone in fight against rare diseases Am J Health Syst Pharm 65 13 2008 1205 1210