The potential investment impact of improved access to accelerated approval on the development of treatments for low prevalence rare diseases

Orphanet Journal of Rare Diseases

Volumn 6, Issue 1, 2011, Pages

  Miyamoto, Brigitta E ^a   Kakkis, Emil D ^a  

^a Kakkis EveryLife Foundation for Rare Diseases   (United States)

Author keywords

Accelerated approval; Clinical trials; Drug development; Rare diseases; Surrogate endpoint

Indexed keywords

ARTICLE; DISEASE MARKER; FOSTER CARE; PREVALENCE; RARE DISEASE; ANIMAL; BIOTECHNOLOGY; CLINICAL TRIAL (TOPIC); DRUG APPROVAL; DRUG MANUFACTURE; ECONOMICS; FOOD AND DRUG ADMINISTRATION; HUMAN; LEGAL ASPECT; OUTCOME ASSESSMENT; UNITED STATES;

BIOLOGICAL MARKER;

ANIMALS; BIOLOGICAL MARKERS; BIOTECHNOLOGY; CLINICAL TRIALS AS TOPIC; DRUG APPROVAL; HUMANS; ORPHAN DRUG PRODUCTION; OUTCOME ASSESSMENT (HEALTH CARE); RARE DISEASES; UNITED STATES; UNITED STATES FOOD AND DRUG ADMINISTRATION;

EID: 79959901574     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-6-49     Document Type: Article

References (62)

1. Emergence of orphan drugs in the United States: a quantitative assessment of the first 25 years. MM Braun, S Farag-El-Massah, K Xu, TR Cote, Nat Rev Drug Discov 2010 9 519 522 20531273
2. Are surrogate markers adequate to assess cardiovascular disease drugs? R Temple, JAMA-J Am Med Assn 1999 282 790 795 10.1001/jama.282.8.790 (Pubitemid 29404390)
3. Code of Federal Regulations, Title 21. 5 http://www.accessdata.fda.gov/ scripts/cdrh/cfdocs/cfcfr/CFRSearch.cfm?fr = 314.510
4. Accelerated and Restricted Approvals Under Subpart H (drugs) and Subpart E (biologics). http://www.fda.gov/Drugs/DevelopmentApprovalProcess/ HowDrugsareDevelopedandApproved/DrugandBiologicApprovalReports/ucm121597.htm
5. Phenylalanine blood levels and clinical outcomes in phenylketonuria: A systematic literature review and meta-analysis. SE Waisbren, K Noel, K Fahrbach, C Cella, D Frame, A Dorenbaum, H Levy, Mol Genet Metab 2007 92 63 70 10.1016/j.ymgme.2007.05.006 17591452 (Pubitemid 47361886)
6. Urea Cycle Enzymes. SW Brusilow, AL Horwich, Metabolic and Molecular Bases of Inherited Disease - OMMBID New York: McGraw-Hill, Scriver CR, Childs B, Sly WS, Valle D, Beaudet AL, Vogelstein B, Kinsler KW, 2010
7. Enzyme-replacement therapy in mucopolysaccharidosis I. ED Kakkis, J Muenzer, GE Tiller, L Waber, J Belmont, M Passage, B Izykowski, J Phillips, R Doroshow, I Walot, R Hoft, KT Yu, S Okazaki, D Lewis, R Lachman, JN Thompson, N Engl J Med 2001 344 182 188 10.1056/NEJM200101183440304 11172140 (Pubitemid 32064139)
8. Enzyme replacement therapy for the mucopolysaccharide storage disorders. ED Kakkis, Expert Opin Investig Drugs 2002 11 675 685 10.1517/13543784.11.5.675 11996648 (Pubitemid 34520617)
9. Surrogate end-points for use in phase III clinical trials: their development and role in MAA approval: EFPIA Position Paper Proposals. G Barton, EMEA/EFPIA Workshop on Biomarkers 2006 London
10. European regulatory perspectives for innovative therapies. S Ormarsdottir, JY Reginster, E Abadie, Osteoporosis Int 2008 19 725 731 10.1007/s00198-008-0576-4 (Pubitemid 351652524)
11. Translation of rare disease research into orphan drug development: disease matters. HE Heemstra, S van Weely, HA Buller, HGM Leufkens, RLA de Vrueh, Drug Discov Today 2009 14 1166 1173 10.1016/j.drudis.2009.09.008 19818412
12. Treatment of late infantile neuronal ceroid lipofuscinosis by CNS administration of a serotype 2 adeno-associated virus expressing CLN2 cDNA. S Worgall, D Sondhi, NR Hackett, B Kosofsky, MV Kekatpure, N Neyzi, JP Dyke, D Ballon, L Heier, BM Greenwald, P Christos, M Mazumdar, MM Souweidane, MG Kaplitt, RG Crystal, Hum Gene Ther 2008 19 463 474 10.1089/hum.2008.022 18473686 (Pubitemid 351748791)
13. Enzyme replacement therapy for mucopolysaccharidosis I: A randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (Laronidase). JE Wraith, LA Clarke, M Beck, EH Kolodny, GM Pastores, J Muenzer, DM Rapoport, KI Berger, SJ Swiedler, ED Kakkis, T Braakman, E Chadbourne, K Walton-Bowen, GF Cox, J Pediat 2004 144 581 588 10.1016/j.jpeds.2004.01.046 15126990 (Pubitemid 38594757)
14. Enzyme replacement therapy for mucopolysaccharidosis VI: A Phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study. P Harmatz, R Giugliani, I Schwariz, N Guffon, EL Teles, MCS Miranda, JE Wraith, M Beck, L Arash, M Scarpa, ZF Yu, J Wittes, KI Berger, MS Newman, AM Lowe, E Kakkis, SJ Swiedler, J Pediat 2006 148 533-539 10.1016/j.jpeds.2005.12.014 16647419 (Pubitemid 44419350)
15. Hplc Analysis of Oligosaccharides in Urine from Oligosaccharidosis Patients. GOH Peelen, JGN Dejong, RA Wevers, Clin Chem 1994 40 914 921 8087986 (Pubitemid 24166310)
16. Alpha-Mannosidosis-Analysis of Urinary Oligosaccharides with High-Performance Liquid-Chromatography and Diagnosis of A Case with Unusually Mild Presentation. TG Warner, AK Mock, WL Nyhan, JS Obrien, Clin Genet 1984 25 248 255 6705257 (Pubitemid 14155055)
17. Laboratory Detection of Aspartylglycosaminuria. I Mononen, V Kaartinen, T Mononen, Scand J Clin Lab Invest 1988 48 7 11 2851165 (Pubitemid 19081258)
18. Urinary Oligosaccharide Excretion and Severity of Galactosialidosis and Sialidosis. Y Takahashi, Y Nakamura, S Yamaguchi, T Orii, Clin Chim Acta 1991 203 199 210 10.1016/0009-8981(91)90292-K 1777981
19. Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVA. S Tomatsu, K Okamura, T Taketani, KO Orii, T Nishioka, MA Gutierrez, S Velez-Castrillon, AA Fachel, JH Grubb, A Cooper, M Thornley, E Wraith, LA Barrera, R Giugliani, IV Schwartz, GS Frenking, M Beck, SG Kircher, E Paschke, S Yamaguchi, K Ullrich, K Isogai, Y Suzuki, T Orii, N Kondo, M Creer, A Noguchi, Pediat Res 2004 55 592 597 10.1203/01.PDR.0000113767. 60140.E9 14711889 (Pubitemid 38405845)
20. Possible Use of Csf Glycosphingolipids for the Diagnosis and Therapeutic Monitoring of Lysosomal Storage Diseases. EM Kaye, MD Ullman, EH Kolodny, W Krivit, JC Rischert, Neurology 1992 42 2290 2294 1461381 (Pubitemid 23001589)
21. A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome). J Muenzer, JE Wraith, M Beck, R Giugliani, P Harmatz, CM Eng, A Vellodi, R Martin, U Ramaswami, M Gucsavas-Calikoglu, S Vijayaraghavan, S Wendt, A Puga, B Ulbrich, M Shinawi, M Cleary, D Piper, AM Conway, A Kimura, Genet Med 2006 8 465 473 10.1097/01.gim.0000232477.37660.fb 16912578
22. Acid Lipase Deficiency: Wolman Disease and Cholesteryl Ester Storage Disease. G Assmann, U Seedorf, Metabolic and Molecular Bases of Inherited Disease - OMMBID New York: McGraw-Hill, Scriver CR, Childs B, Sly WS, Valle D, Beaudet AL, Vogelstein B, Kinsler KW, 2010
23. International registry for primary Hyperoxaluria. JC Lieske, CG Monico, WS Holmes, EJ Bergstralh, JM Slezak, AL Rohlinger, JB Olson, DS Milliner, Amer J Nephrol 2005 25 290 296 10.1159/000086360 (Pubitemid 41202753)
24. Quality of life in patients with epidermolysis bullosa. S Tabolli, F Sampogna, C Di Pietro, A Paradisi, C Uras, P Zotti, D Castiglia, G Zambruno, D Abeni, Brit J Dermatol 2009 161 869 877 10.1111/j.1365-2133.2009.09306.x
25. Clinical Aspects of X-Linked Hypohidrotic Ectodermal Dysplasia. A Clarke, DIM Phillips, R Brown, PS Harper, Arch Dis Child 1987 62 989 996 10.1136/adc.62.10.989 2445301 (Pubitemid 17155042)
26. Carbohydrate-deficient glycoprotein syndrome type Ib-Phosphomannose isomerase deficiency and mannose therapy. R Niehues, M Hasilik, G Alton, C Korner, M Schiebe-Sukumar, HG Koch, KP Zimmer, RR Wu, E Harms, K Reiter, K von Figura, HH Freeze, HK Harms, T Marquardt, J Clin Invest 1998 101 1414 1420 10.1172/JCI2350 9525984 (Pubitemid 28166839)
27. Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome. D Babovic-Vuksanovic, MC Patterson, WF Schwenk, JF O'Brien, J Vockley, HH Freeze, DP Mehta, VV Michels, J Pediat 1999 135 775 781 10.1016/S0022-3476(99)70103-4 10586187 (Pubitemid 30180433)
28. Hypersulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: A new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose. P de Lonlay, M Cuer, S Vuillaumier-Barrot, G Beaune, P Castelnau, M Kretz, G Durand, JM Saudubray, N Seta, J Pediat 1999 135 379 383 10.1016/S0022-3476(99)70139-3 10484808 (Pubitemid 30180516)
29. Recurrent Thrombo-Embolism in A Child with A Congenital Disorder of Glycosylation (Cdg) Type Ib and Treatment with Mannose. RYJ Tamminga, DJ Lefeber, WA Kamps, FJ van Spronsen, Pediatr Hematol Oncol 2008 25 762 768 10.1080/08880010802394616 19065443
30. Genetic and metabolic analysis of the first adult with congenital disorder of glycosylation type Ib: Long-term outcome and effects of mannose supplementation. V Westphal, S Kjaergaard, JA Davis, SM Peterson, F Skovby, HH Freeze, Mol Genet Metab 2001 73 77 85 10.1006/mgme.2001.3161 11350186 (Pubitemid 34177627)
31. Clinical expression and long-term outcomes of primary hyperoxaluria types 1 and 2. DS Milliner, DM Wilson, LH Smith, J Nephrology 1998 11 56 59 (Pubitemid 28218919)
32. Primary Hyperoxaluria Type-I. K Latta, J Brodehl, Eur J Pediat 1990 149 518 522 10.1007/BF01957682 (Pubitemid 20184008)
33. Gastrointestinal and other clinical manifestations in 17 children with congenital disorders of glycosylation type IA, Ib, and Ic. G Damen, H de Klerk, J Huijmans, J den Hollander, M Sinaasappel, J Pediat Gastroenterol Nutr 2004 38 282 287 10.1097/00005176-200403000-00010
34. Oral mannose therapy persistently corrects the severe clinical symptoms and biochemical abnormalities of phosphomannose isomerase deficiency. HK Harms, KP Zimmer, K Kurnik, RM Bertele-Harms, S Weidinger, K Reiter, Acta Paediat 2002 91 1065 1072 10.1111/j.1651-2227.2002.tb00101.x 12434892 (Pubitemid 35204000)
35. Development of liver disease despite mannose treatment in two patients with CDG-Ib. K Mention, F Lacaille, V Valayannopoulos, S Romano, A Kuster, M Cretz, H Zaidan, L Galmiche, F Jaubert, Y de Keyzer, N Seta, P de Lonlay, Mol Genet Metab 2008 93 40 43 17945525 (Pubitemid 350236007)
36. Congenital disorder of glycosylation Ib (CDG-Ib) without gastrointestinal symptoms. D Penel-Capelle, D Dobbelaere, J Jaeken, A Klein, M Cartigny, J Weill, J Inherit Metab Dis 2003 26 83 85 10.1023/A:1024044017385 12872847 (Pubitemid 36817946)
37. Potential of fibroblast cell therapy for recessive dystrophic epidermolysis bullosa. T Wong, L Gammon, L Liu, JE Mellerio, PJC Dopping-Hepenstal, J Pacy, G Elia, R Jeffery, IM Leigh, H Navsaria, JA McGrath, J Invest Dermatol 2008 128 2179 2189 10.1038/jid.2008.78 18385758
38. Anomalies of tooth formation in hypohidrotic ectodermal dysplasia. MO Lexner, A Bardow, JM Hertz, LA Nielsen, S Kreiborg, Int J Paediatr Dent 2007 17 10 18 10.1111/j.1365-263X.2006.00801.x 17181574 (Pubitemid 44895283)
39. Significant correction of disease after postnatal administration of recombinant ectodysplasin a in canine x-linked ectodermal dysplasia. ML Casal, JR Lewis, EA Mauldin, A Tardivel, K Ingold, M Favre, F Paradies, S Demotz, O Gaide, P Schneider, Amer J Hum Genet 2007 81 1050 1056 10.1086/521988 17924345 (Pubitemid 47580256)
40. Putting a price on biotechnology-Many bioentrepreneurs incorrectly estimate the value of their technology by failing to account adequately for the cost, risk, and time inherent in product development. JJ Stewart, PN Allison, RS Johnson, Nat Biotechnol 2001 19 813 817 10.1038/nbt0901-813 11533634 (Pubitemid 32816750)
41. Java applets for power and sample size. http://www.stat.uiowa.edu/ ~rlenth/Power/index.html
42. Sample size for comparing Event Rates between two Independent Cohorts. http://department.obg.cuhk.edu.hk/researchsupport/Sample-size-Comp2Prop.asp
43. Targeting macrophages with baculovirus-produced lysosomal enzymes: implications for enzyme replacement therapy of the glycoprotein storage disorder galactosialidosis. EJ Bonten, DN Wang, JN Toy, L Mann, A Mignardot, G Yogalingam, A d'Azzo, FASEB J 2004 18 971 992 15084520
44. Intraventricular enzyme replacement improves disease phenotypes in a mouse model of late infantile neuronal ceroid lipofuscinosis. M Chang, JD Cooper, DE Sleat, SH Cheng, JC Dodge, MA Passini, P Lobel, BL Davidson, Mol Ther 2008 16 649 656 10.1038/mt.2008.9 18362923 (Pubitemid 351426165)
45. Enzyme therapy for lysosomal acid lipase deficiency in the mouse. H Du, S Schiavi, M Levine, J Mishra, M Heur, GA Grabowski, Hum Mol Genet 2001 10 1639 1648 10.1093/hmg/10.16.1639 11487567 (Pubitemid 32776293)
46. Enzyme replacement therapy in a mouse model of aspartylglycosaminuria. U Dunder, V Kaartinen, P Valtonen, E Vaananen, VM Kosma, N Heisterkamp, J Groffen, I Mononen, FASEB J 2000 14 361 367 10657992 (Pubitemid 30086073)
47. Permanent correction of an inherited ectodermal dysplasia with recombinant EDA. O Gaide, P Schneider, Nature Med 2003 9 614 618 10.1038/nm861 12692542 (Pubitemid 36597109)
48. Chemical chaperone therapy for brain pathology in G(M1)-gangliosidosis. J Matsuda, O Suzuki, A Oshima, Y Yamamoto, A Noguchi, K Takimoto, M Itoh, Y Matsuzaki, Y Yasuda, S Ogawa, Y Sakata, E Nanba, K Higaki, Y Ogawa, L Tominaga, K Ohno, H Iwasaki, H Watanabe, RO Brady, Y Suzuki, Proc Nat Acad Sci USA 2003 100 15912 15917 10.1073/pnas.2536657100 14676316 (Pubitemid 38021089)
49. Enzyme replacement improves nervous system pathology and function in a mouse model for metachromatic leukodystrophy. U Matzner, E Herbst, KK Hedayati, R Lullmann-Rauch, C Wessig, S Schroder, C Eistrup, C Moller, J Fogh, V Gieselmann, Hum Mol Genet 2005 14 1139 1152 10.1093/hmg/ddi126 15772092 (Pubitemid 40613903)
50. Infusion of recombinant human acid sphingomyelinase into Niemann-Pick disease mice leads to visceral, but not neurological, correction of the pathophysiology. SRP Miranda, XX He, CM Simonaro, S Gatt, A Dagan, RJ Desnick, EH Schuchman, FASEB J 2000 14 1988 1995 10.1096/fj.00-0014com 11023983
51. Efficacy of enzyme replacement therapy in alpha-mannosidosis mice: a preclinical animal study. DP Roces, R Lullmann-Rauch, JH Peng, C Balducci, C Andersson, O Tollersrud, J Fogh, A Orlacchio, T Beccari, P Saftig, K von Figura, Hum Mol Genet 2004 13 1979 1988 10.1093/hmg/ddh220 15269179 (Pubitemid 39377822)
52. Enzyme Replacement Therapy for Murine Mucopolysaccharidosis Type-Vii. MS Sands, C Vogler, JW Kyle, JH Grubb, B Levy, N Galvin, WS Sly, EH Birkenmeier, J Clin Invest 1994 93 2324 2331 10.1172/JCI117237 8200966 (Pubitemid 24177142)
53. Intracerebral injection of sulfamidase delays neuropathology in murine MPS-IIIA. PS Savas, KM Hemsley, JJ Hopwood, Mol Genet Metab 2004 82 273 285 10.1016/j.ymgme.2004.05.005 15308125 (Pubitemid 39078707)
54. Direct correlation between hyperoxaluria/oxalate stone disease-and the absence of the gastrointestinal tract-dwelling bacterium Oxalobacter formigenes: Possible prevention by gut recolonization or enzyme replacement therapy. H Sidhu, ME Schmidt, JG Cornelius, S Thamilselvan, SR Khan, A Hesse, AB Peck, J Amer Soc Nephrol 1999 10 334 S340
55. Enzyme replacement therapy in a murine model of Morquio A syndrome. S Tomatsu, AM Montano, A Ohashi, MA Gutierrez, H Oikawa, T Oguma, VC Dung, T Nishioka, T Orii, WS Sly, Hum Mol Genet 2008 17 815 824 18056156 (Pubitemid 351359698)
56. Injection of recombinant human type VII collagen restores collagen function in dystrophic epidermolysis bullosa. DT Woodley, DR Keene, T Atha, Y Huang, K Lipman, W Li, M Chen, Nature Med 2004 10 693 695 10.1038/nm1063 15195089 (Pubitemid 38937633)
57. Hyperoxaluria Is Reduced and Nephrocalcinosis Prevented with an Oxalate-Degrading Enzyme in Mice with Hyperoxaluria. D Grujic, EC Salido, BC Shenoy, CB Langman, ME McGrath, RJ Patel, A Rashid, S Mandapati, CW Jung, AL Margolin, Amer J Nephrol 2009 29 86 93 10.1159/000151395
58. Injection of Recombinant Human Type VII Collagen Corrects the Disease Phenotype in a Murine Model of Dystrophic Epidermolysis Bullosa. J Remington, XY Wang, YP Hou, H Zhou, J Burnett, T Muirhead, J Uitto, DR Keene, DT Woodley, M Chen, Mol Ther 2009 17 26 33 10.1038/mt.2008.234 19018253
59. Endocrinologic and Metabolic Advisory Committee Meeting Tuesday, January 14, 2003. http://www.fda.gov/ohrms/dockets/ac/03/transcripts/3917T2.htm
60. Surrogate end points in clinical trials: Are we being misled? TR Fleming, DL Demets, Ann Intern Med 1996 125 605 613 8815760 (Pubitemid 126450094)
61. Surrogate endpoints and FDA's accelerated approval process. TR Fleming, Health Affair 2005 24 67 78 10.1377/hlthaff.24.1.67 (Pubitemid 40173935)
62. Neonatal Screening. Health Council of the Netherlands, The Hague 2005