Methodology of clinical trials for rare diseases

Best Practice and Research: Clinical Rheumatology

Volumn 28, Issue 2, 2014, Pages 247-262

  Tudur Smith, Catrin ^a   Williamson, Paula R ^a   Beresford, Michael W ^a,b  

^a UNIVERSITY OF LIVERPOOL   (United Kingdom)

^b ALDER HEY CHILDREN'S NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

Paediatric rheumatology; Rare disease trials; Trial design

Indexed keywords

ABATACEPT; ADALIMUMAB; AMITRIPTYLINE; CORTICOSTEROID; CYCLOPHOSPHAMIDE; ETANERCEPT; METHOTREXATE; MYCOPHENOLIC ACID 2 MORPHOLINOETHYL ESTER; VALPROIC ACID;

AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CHILDHOOD DISEASE; CLINICAL DECISION MAKING; CLINICAL RESEARCH; CLINICAL TRIAL (TOPIC); COMPARATIVE STUDY; CROSSOVER PROCEDURE; DRUG EFFICACY; HUMAN; JUVENILE RHEUMATOID ARTHRITIS; METHODOLOGY; OUTCOME ASSESSMENT; PAIN; PATIENT PARTICIPATION; POLYARTERITIS NODOSA; PRIORITY JOURNAL; RANDOMIZATION; RANDOMIZED CONTROLLED TRIAL (TOPIC); RARE DISEASE; RHEUMATIC DISEASE; RISK BENEFIT ANALYSIS; STUDY DESIGN; TREATMENT OUTCOME; UVEITIS;

PAEDIATRIC RHEUMATOLOGY; RARE DISEASE TRIALS; TRIAL DESIGN;

CLINICAL TRIALS AS TOPIC; CROSS-OVER STUDIES; HUMANS; PEDIATRICS; RANDOMIZED CONTROLLED TRIALS AS TOPIC; RARE DISEASES; RESEARCH DESIGN; RHEUMATOLOGY;

EID: 84903266837     PISSN: 15216942     EISSN: 15321770     Source Type: Journal    
DOI: 10.1016/j.berh.2014.03.004     Document Type: Review

References (91)

1. OCEBM Levels of Evidence Working Group The Oxford levels of evidence 2 19/02/2014 Available from: http://www.cebm.net/index.aspx?o=5653
2. L.M. Friedman, C.D. Furberg, and D.L. DeMets Fundamentals of clinical trials 4th ed. 2010 Springer
3. Office of Rare Diseases Research Frequently asked questions 2014 Available from: http://rarediseases.info.nih.gov/about-ordr/pages/31/frequently- asked-questions
4. The Council of the European Union Regulation (EC) No 141/2000 Off J Eur Union L18/1:5 2000
5. EURORDIS What is a rare disease? 2007 Available from: http://www.eurordis.org/sites/default/files/publications/Fact-Sheet-RD.pdf
6. S.J.L. Edwards, R.J. Lilford, and D.A. Braunholtz et al. Ethical issues in the design and conduct of randomised controlled trials Health Technol Assess 2 15 1998
7. D.P. Symmons, M. Jones, and J. Osborne et al. Pediatric rheumatology in the United Kingdom: data from the British pediatric rheumatology group national diagnostic register J Rheumatol 23 11 1996 1975 1980
8. R.E. Petty, T.R. Southwood, and P. Manners et al. International League of Associations for Rheumatology classification of juvenile idiopathic arthritis: second revision, Edmonton, 2001 J Rheumatol 31 2 2004 390 392
9. M.W. Beresford Juvenile idiopathic arthritis: new insights into classification, measures of outcome, and pharmacotherapy Paediatr Drugs 13 3 2011 161 173
10. N. Ruperto, R. Vesely, and A. Saint-Raymond et al. Impact of the European paediatric legislation in paediatric rheumatology: past, present and future Ann Rheum Dis 72 12 2013 1893 1896
11. N. Ruperto, E.H. Giannini, and A. Pistorio et al. Is it time to move to active comparator trials in juvenile idiopathic arthritis?: a review of current study designs Arthritis Rheum 62 11 2010 3131 3139
12. J. Thornton, M.W. Beresford, and P. Clayton Improving the evidence base for treatment of juvenile idiopathic arthritis: the challenge and opportunity facing the MCRN/ARC Paediatric Rheumatology Clinical Studies Group Rheumatology 47 5 2008 563 566
13. S. Gupta, M.E. Faughnan, G.A. Tomlinson, and A.M. Bayoumi A framework for applying unfamiliar trial designs in studies of rare diseases J Clin Epidemiol 64 10 2011 1085 1094
14. C. Cornu, B. Kassai, and R. Fisch et al. Experimental designs for small randomised clinical trials: an algorithm for choice Orphanet J Rare Dis 8 1 2013 48
15. P. Mowinckel, K.B. Hagen, T. Heiberg, and T.K. Kvien Repeated measures in rheumatoid arthritis reduced the required sample size in a two-armed clinical trial J Clin Epidemiol 61 9 2008 940 944
16. P. Woo, T.R. Southwood, and A.M. Prieur et al. Randomized, placebo-controlled, crossover trial of low-dose oral methotrexate in children with extended oligoarticular or systemic arthritis Arthritis Rheumatol 43 8 2000 1849 1857
17. Interactive textbook on clinical symptom research 2003 Available from: http://painconsortium.nih.gov/symptomresearch/tablecontents.htm
18. Committee for Medicinal Products for Human Use (CHMP) Guideline on clinical trials in small populations 2006 Available from: http://www.ema.europa. eu/docs/en-GB/document-library/Scientific-guideline/2009/09/WC500003615.pdf
19. A.M. Huber, G.A. Tomlinson, G. Koren, and B.M. Feldman Amitriptyline to relieve pain in juvenile idiopathic arthritis: a pilot study using Bayesian metaanalysis of multiple N-of-1 clinical trials J Rheumatol 34 5 2007 1125 1132
20. F. McErlane, M.W. Beresford, and E. Baildam et al. Recent developments in disease activity indices and outcome measures for juvenile idiopathic arthritis Rheumatology 52 11 2013 1941 1951
21. G. Gartlehner, R.A. Hansen, and B.L. Jonas et al. Biologics for the treatment of juvenile idiopathic arthritis: a systematic review and critical analysis of the evidence Clin Rheumatol 27 1 2008 67 76
22. V. Strand, R. Kimberly, and J.D. Isaacs Biologic therapies in rheumatology: lessons learned, future directions Nat Rev Drug Discov 6 1 2007 75 92
23. Committee for Medicinal Products for Human Use (CHMP) Reflection paper on methodological issues in confirmatory clinical trials planned with an adaptive design 2007 Available from: http://www.ema.europa.eu/docs/en-GB/document- library/Scientific-guideline/2009/09/WC500003616.pdf
24. W.F. Rosenberger, O. Sverdlov, and F. Hu Adaptive randomization for clinical trials J Biopharm Stat 22 4 2012 719 736
25. F. Hu, and W.F. Rosenberger The theory of response-adaptive randomization in clinical trials 2006 Wiley New York
26. M. Zelen Play the winner rule and the controlled clinical trial J Am Stat Assoc 1969 131 146
27. L.J. Wei, and S. Durham The randomized play-the-winner rule in medical trial J Am Stat Assoc 1978 840 843
28. R.H. Bartlett, D.W. Roloff, and R.G. Cornell et al. Extracorporeal circulation in neonatal respiratory failure: a prospective randomized study Pediatr Rev 76 1985 479 487
29. J.H. Ware Investigating therapies of potentially great benefit: ECMO Stat Sci 4 1989 298 306
30. FDA Guidance for Industry adaptive design clinical trials for drugs and biologics (draft) 2010 Available from: http://www.fda.gov/downloads/Drugs/./ Guidances/ucm201790.pdf
31. J. Whitehead The design and analysis of sequential clinical trials 1997 Wiley
32. R. Huber, U. Prestel, and I. Bloss et al. Effectiveness of subcutaneous injections of a cartilage preparation in osteoarthritis of the knee-a randomized, placebo controlled phase II study Complement Ther Med 18 3-4 2010 113 118
33. S. Piepers, J.H. Veldink, and S.W. de Jong et al. Randomized sequential trial of valproic acid in amyotrophic lateral sclerosis Ann Neurol 66 2 2009 227 234
34. S.-C. Chow, and M. Chang Adaptive design methods in clinical trials 2011 Chapman & Hall
35. ICH harmonised tripartite guideline E10. Choice of control group and related issues in clinical trials July 2000
36. J.A. Kopec, M. Abrahamowicz, and J.M. Esdaile Randomized discontinuation trials: utility and efficiency J Clin Epidemiol 46 9 1993 959 971
37. N. Ruperto, D.J. Lovell, and P. Quartier et al. Abatacept in children with juvenile idiopathic arthritis: a randomised, double-blind, placebo-controlled withdrawal trial Lancet 372 9636 2008 383 391
38. D.J. Lovell, E.H. Giannini, and A. Reiff et al. Etanercept in children with polyarticular juvenile rheumatoid arthritis. Pediatric Rheumatology Collaborative Study Group N Eng J Med 342 11 2000 763 769
39. W.B. Capra Comparing the power of the discontinuation design to that of the classic randomized design on time-to-event endpoints Control Clin Trial. 25 2 2004 168 177
40. W.M. Stadler The randomized discontinuation trial: a phase II design to assess growth-inhibitory agents Mol Cancer Ther 6 4 2007 1180 1185
41. D.J. Lovell, N. Ruperto, E.H. Giannini, and A. Martini Advances from clinical trials in juvenile idiopathic arthritis Nat Rev Rheumatol 9 9 2013 557 563
42. D.A. Berry Bayesian clinical trials Nat Rev Drug Discov 5 1 2006 27 36
43. R.J. Lilford, J.G. Thornton, and D. Braunholtz Clinical trials and rare diseases: a way out of a conundrum BMJ 311 1995 1621 1625
44. FDA Guidance for the use of Bayesian Statistics in medical device clinical trials 2010 Available from: http://www.fda.gov/downloads/ MedicalDevices/DeviceRegulationandGuidance/GuidanceDocuments/ucm071121.pdf
45. Department of Health and Human Services Food and Drug Administration Report to congress. Improving the prevention, diagnosis, and treatment of rare and neglected diseases 2011
46. S. Biswas, D.D. Liu, J.J. Lee, and D.A. Berry Bayesian clinical trials at the University of Texas m. D. Anderson Cancer Center Clin Trial. 6 3 2009 205 216
47. S.R. Johnson, G.A. Tomlinson, G.A. Hawker, J.T. Granton, and B.M. Feldman Methods to elicit beliefs for Bayesian priors: a systematic review J Clin Epidemiol 63 2010 355 369
48. N. Kinnersley, and S. Day Structured approach to the elicitation of expert beliefs for a Bayesian-designed clinical trial: a case study Pharmaceut Stat 12 2 2013 104 113
49. M.J. Dillon, D. Eleftheriou, and P.A. Brogan Medium-size-vessel vasculitis Pediatr Nephrol 25 2010 1641 1652
50. L.V. Hampson et al. Elicitation of expert prior opinion: application to the MYPAN trial in childhood polyarteritis nodosa 2014 [submitted for publication]
51. Paediatric rheumatology CSG 2014 Available from http://www. arthritisresearchuk.org/research/our-clinical-study-groups-and-research- strategies/paediatric-rheumatology.aspx
52. Pediatric rheumatology INternational trials organisation (PRINTO) https://www.printo.it/index.asp
53. L.V. Hampson, J. Whitehead, D. Eleftheriou, and P. Brogan Bayesian methods for the design and interpretation of clinical trials in very rare diseases 2014 [submitted for publication]
54. K. Dwan, D.G. Altman, and J.A. Arnaiz et al. Systematic review of the empirical evidence of study publication bias and outcome reporting bias Plos One 3 8 2008 e3081
55. K. Dwan, C. Gamble, P.R. Williamson, and J.J. Kirkham Systematic review of the empirical evidence of study publication bias and outcome reporting bias - an updated review Plos One 8 7 2013 e66844
56. P.R. Williamson, D.G. Altman, and J.M. Blazeby et al. Driving up the quality and relevance of research through the use of agreed core outcomes J Health Serv Res Policy 17 2012 1 2
57. P.R. Williamson, D.G. Altman, and J.M. Blazeby et al. Developing core outcome sets for clinical trials: issues to consider Trials 13 2012 132
58. P. Serrano-Aguilar, M.M. Trujillo-Martin, and J.M. Ramos-Goni et al. Patient involvement in health research: a contribution to a systematic review on the effectiveness of treatments for degenerative ataxias Soc Sci Med 69 6 2009 920 925
59. P.J. Mease, L.M. Arnold, and L.J. Crofford et al. Identifying the clinical domains of fibromyalgia: contributions from clinician and patient Delphi exercises Arthritis Rheum 59 7 2008 952 960
60. P. Tugwell, M. Boers, and P. Brooks et al. OMERACT: an international initiative to improve outcome measurement in rheumatology Trials 8 2007 38
61. N.M.A. Ruperto International research networks in pediatric rheumatology: the PRINTO perspective Curr Opin Rheumatol 16 5 2004 566 570
62. H.I. Brunner, and A. Ravelli Developing outcome measures for paediatric rheumatic diseases Best Pract Res Clin Rheumatol 23 5 2009 609 624
63. E.H. Giannini, N. Ruperto, and A. Ravelli et al. Preliminary definition of improvement in juvenile arthritis Arthritis Rheum 40 7 1997 1202 1209
64. F.W. Miller, L.G. Rider, and Y.L. Chung et al. Proposed preliminary core set measures for disease outcome assessment in adult and juvenile idiopathic inflammatory myopathies Rheumatology 40 2001 1262 1273
65. A. Heiligenhaus, I. Foeldvari, and C. Edelsten et al. Proposed outcome measures for prospective clinical trials in juvenile idiopathic arthritis-associated uveitis: a consensus effort from the multinational interdisciplinary working group for uveitis in childhood Arthritis Care Res (Hoboken) 64 9 2012 1365 1372
66. N. Ruperto, A. Ravelli, and K.J. Murray et al. Preliminary core sets of measures for disease activity and damage assessment in juvenile systemic lupus erythematosus and juvenile dermatomyositis Rheumatology 42 12 2003 1452 1459
67. S. Ringold, and C.A. Wallace Measuring clinical response and remission in juvenile idiopathic arthritis Curr Opin Rheumatol 19 5 2007 471 476
68. T. Neogi, and D.T. Felson Composite versus individual measures of disease activity in rheumatoid arthritis J Rheumatol 35 2 2008 185 187
69. N. Ruperto, A. Ravelli, and F. Falcini et al. Performance of the preliminary definition of improvement in juvenile chronic arthritis patients treated with methotrexate. Italian Pediatric Rheumatology Study Group Ann Rheum Dis 57 1 1998 38 41
70. H.I. Brunner, D.J. Lovell, B.K. Finck, and E.H. Giannini Preliminary definition of disease flare in juvenile rheumatoid arthritis J Rheumatol 29 5 2002 1058 1064
71. C.A. Wallace, N. Ruperto, and E. Giannini Preliminary criteria for clinical remission for select categories of juvenile idiopathic arthritis J Rheumatol 31 11 2004 2290 2294
72. C.A. Wallace, E.H. Giannini, and B. Huang et al. American College of Rheumatology provisional criteria for defining clinical inactive disease in select categories of juvenile idiopathic arthritis Arthritis Care Res (Hoboken) 63 7 2011 929 936
73. S. Magni-Manzoni, N. Ruperto, and A. Pistorio et al. Development and validation of a preliminary definition of minimal disease activity in patients with juvenile idiopathic arthritis Arthritis Rheum 59 8 2008 1120 1127
74. A. Consolaro, N. Ruperto, and A. Bazso et al. Development and validation of a composite disease activity score for juvenile idiopathic arthritis Arthritis Rheum 61 5 2009 658 666
75. F. McErlane, M.W. Beresford, and E. Baildam et al. Validity of a three-variable juvenile arthritis disease activity score in children with new onset juvenile idiopathic arthritis Ann Rheum Dis 72 12 2013 1983 1988
76. G. Filocamo, A. Consolaro, and B. Schiappapietra et al. A new approach to clinical care of juvenile idiopathic arthritis: the juvenile arthritis multidimensional assessment report J Rheumatol 38 5 2011 938 953
77. A. Consolaro, N. Ruperto, and A. Pistorio et al. Development and initial validation of composite parent- and child-centered disease assessment indices for juvenile idiopathic arthritis Arthritis Care Res (Hoboken) 63 9 2011 1262 1270
78. J.M. Landgraf, E. Maunsell, and K.N. Speechley et al. Canadian-French, German and UK versions of the Child Health Questionnaire: methodology and preliminary item scaling results Qual Life Res 7 5 1998 433 445
79. J.W. Varni, M. Seid, and T. Smith Knight et al. The PedsQL in pediatric rheumatology: reliability, validity, and responsiveness of the pediatric quality of life inventory generic core scales and rheumatology module Arthritis Rheum 46 3 2002 714 725
80. C.M. Duffy, L. Arsenault, and K.N. Duffy et al. The juvenile arthritis quality of life questionnaire - development of a new responsive index for juvenile rheumatoid arthritis and juvenile spondyloarthritides J Rheumatol 24 4 1997 738 746
81. C. Relton, D. Torgerson, A. O'Cathain, and J. Nicholl Rethinking pragmatic randomised controlled trials: introducing the "cohort multiple randomised controlled trial" design BMJ 340 Mar19 1 2010 c1066-c
82. L. Kwakkenbos, L.R. Jewett, and M. Baron et al. The Scleroderma patient-centered intervention Network (SPIN) cohort: protocol for a cohort multiple randomised controlled trial (cmRCT) design to support trials of psychosocial and rehabilitation interventions in a rare disease context BMJ Open 3 8 2013
83. M. Espinosa, and B.S. Gottlieb Juvenile idiopathic arthritis Pediatr Rev 33 2012 303 313
84. A.V. Ramanan, A.D. Dick, and D. Benton et al. A randomised controlled trial of the clinical effectiveness, safety and cost-effectiveness of adalimumab in combination with methotrexate for the treatment of juvenile idiopathic arthritis associated uveitis (SYCAMORE Trial) Trials 15 1 2014 14
85. Department of Health Consultation on the United Kingdom plan for rare diseases 2012 Available from: www.gov.uk/government/uploads/system/uploads/ attachment-data/file/215141/dh-32883.pdf
86. Rare Disease UK Funding support for rare disease research: raising awareness and increasing transparency 2011 Available from: http://www. raredisease.org.uk/documents/Research%20Report/rduk-research-funding-report.pdf
87. European Commission Rare diseases - how Europe is meeting the challenges 2011 Publications Office of the European Union Luxembourg Available from: http://ec.europa.eu/research/health/pdf/rare-diseases-how-europe-meeting- challenges-en.pdf
88. Department of Health The UK strategy for rare diseases 2013 Available from: https://www.gov.uk/government/uploads/system/uploads/attachment-data/file/ 260562/UK-Strategy-for-Rare-Diseases.pdf
89. NIHR establishes new rare diseases translational research collaboration 2013 Available from: http://www.nihr.ac.uk/news/Lists/News/DispForm.aspx?ID=1750
90. The global genes project. Rare facts and statistics 2013 Available from: http://globalgenes.org/rarefacts/
91. R. Joppi, V. Bertele, and S. Garattini Orphan drugs, orphan diseases. The first decade of orphan drug legislation in the EU Eur J Clin 69 4 2013 1009 1024