Innovative research methods for studying treatments for rare diseases: Methodological review

BMJ (Online)

Volumn 349, Issue , 2014, Pages

  Gagne, Joshua J ^a   Thompson, Lauren ^a   O'Keefe, Kelly ^a   Kesselheim, Aaron S ^a  

^a BRIGHAM AND WOMEN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE CONTROL STUDY; CLINICAL TRIAL (TOPIC); COHORT ANALYSIS; EVIDENCE BASED MEDICINE; HUMAN; METHODOLOGY; MULTICENTER STUDY (TOPIC); OBSERVATIONAL STUDY; OUTCOME ASSESSMENT; PROSPECTIVE STUDY; RANDOMIZED CONTROLLED TRIAL (TOPIC); RARE DISEASE; SAMPLE SIZE; STUDY DESIGN; PROCEDURES;

CASE-CONTROL STUDIES; EVIDENCE-BASED MEDICINE; HUMANS; OBSERVATIONAL STUDIES AS TOPIC; OUTCOME ASSESSMENT (HEALTH CARE); RANDOMIZED CONTROLLED TRIALS AS TOPIC; RARE DISEASES; RESEARCH DESIGN;

EID: 84913582539     PISSN: 09598146     EISSN: 17561833     Source Type: Journal    
DOI: 10.1136/bmj.g6802     Document Type: Article

References (51)

1. EURORDIS: European Organisation for Rare Diseases. Rare diseases: understanding this public health priority. 2005. www.eurordis.org/IMG/pdf/princeps-document-EN.pdf.
2. Orphan Drug Act, Pub. L No 97-414, 96 Stat. 2049 (1984 as amended).
3. National Center for Advanceing Translational Sciences. Office of Rare Disease Research. Frequently asked questions. 2013. http://rarediseases.info.nih.gov/about-ordr/pages/31/frequently-asked-questions.
4. Kesselheim AS, Gagne JJ. Strategies for post-market surveillance of drugs for rare diseases. Clin Pharmacol Ther 2014;95:265-8.
5. De la Paz MP, Villaverde-Hueso A, Alonso V., János S, Zurriaga O., Pollán M, et al. Rare diseases epidemiology research. Adv Exp Med Biol 2010; 686:17-39.
6. Kesselheim AS, Myers JA, Avorn J. Characteristics of clinical trials to support approval of orphan vs nonorphan drugs for cancer. JAMA 2011; 305:2320-6.
7. Shurin S, Krischer J, Groft SC. Clinical trials In BMT: ensuring that rare diseases and rarer therapies are well done. Biol Blood Marrow Transplant 2012; 18:S8-11.
8. Whitehead J, Tishkovskaya S, O'Connor J, Damato B. Devising two-stage and multistage phase II studies on systemic adjuvant therapy for uveal melanoma. Invest Ophthalmol Vis Sci 2012; 53:4986-9.
9. Stone EM. Challenges in genetic testing for clinical trials of inherited and orphan retinal diseases. Retina 2005; 25:S72-3.
10. Griggs RC, Batshaw M, Dunkle M., Gopal-Srivastava R, Kaye E, Krischer J., et al. Clinical research for rare disease: opportunities, challenges, and solutions. Mol Genet Metab 2009; 96:20-6.
11. Buckley BM. Clinical trials of orphan medicines. Lancet 2008; 371:2051-5.
12. Van der Lee JH, Wesseling J, Tanck M.W., Offringa M. Efficient ways exist to obtain the optimal sample size in clinical trials in rare diseases. J Clin Epidemiol 2008; 61:324-30.
13. Kinder B, McCormack FX. Clinical trials for rare lung diseases: lessons from lymphangioleiomyomatosis. Lymphat Res Biol 2010; 8:71-9.
14. Goss CH, Mayer-Hamblett N, Kronmal R.A., Ramsey BW. The cystic fibrosis therapeutics development network (CF TDN): a paradigm of a clinical trials network for genetic and orphan diseases. Adv Drug Deliv Rev 2002; 54:1505-28.
15. Chow SC, Chang M. Adaptive design methods in clinical trials - a review. Orphanet J Rare Dis 2008; 3:11.
16. Gupta S, Faughnan ME, Tomlinson G.A., Bayoumi AM. A framework for applying unfamiliar trial designs in studies of rare diseases. J Clin Epidemiol 2011; 64:1085-94.
17. Cornu C, Kassai B, Fisch R., Chiron C, Alberti C, Guerrini R., et al. Experimental designs for small randomised clinical trials: an algorithm for choice. Orphanet J Rare Dis 2013; 8:48.
18. Dimichele DM, Blanchette V, Berntorp E. Clinical trial design in haemophilia. Haemophilia 2012; 18(SUPPL. 4):18-23.
19. Gallin JI, Alling DW, Malech H.L., Wesley R., Koziol D, Marciano B, et al. Itraconazole to prevent fungal infections in chronic granulomatous disease. N EnglJ Med 2003; 348:2416-22.
20. Puopolo M, Pocchiari M. Need to improve clinical trials in rare neurodegenerative disorders. Ann Ist Super Sanita 2011; 47:55-9.
21. Halpern SD, Karlawish JH, Berlin JA. The continuing unethical conduct of underpowered clinical trials. JAMA 2002; 288:358-62.
22. Lilford RJ, Thornton JG, Braunholtz D. Clinical trials and rare diseases: a way out of a conundrum. BMJ 1995; 311:1621-5.
23. Tan SB, Dear KB, Bruzzi P, Machin D. Strategy for randomised clinical trials in rare cancers. BMJ 2003; 327:47-9.
24. Hyman L. Design of phase III clinical trials for treatments of orphan retinal diseases: an overview of considerations. Retina 2005; 25:S69-71.
25. Lagakos SW. Clinical trials and rare diseases. N Engl J Med 2003; 348:2455-6.
26. Berlin JA. N-of-1 clinical trials should be incorporated into clinical practice. J Clin Epidemiol 2010; 63:1283-4.
27. Weinreich SS, Vrinten C, Verschuuren JJGM, Uyl-de Groot, CA, Kuijpers MR, Sterrenburg E, et al. From rationing to rationality: an n-of-one trial service for off-label medicines for rare (neuromuscular) diseases. Orphanet J Rare Dis 2012; 7(SUPPL. 2):A29.
28. Cole JA, Taylor JS, Hangartner T.N., Weinreb NJ, Mistry PK, Khan A. Reducing selection bias in case-control studies from rare disease registries. Orphanet J Rare Dis 2011; 6:61.
29. Sun P, Garrison LP. Retrospective outcomes studies for orphan diseases: challenges and opportunities. Curr Med Res Opin 2012; 28:665-7.
30. Rosenbaum PR, Rubin DB. The central role of the propensity score in observational studies for causal effects. Biometrika 1983; 70:41-55.
31. Cepeda MS, Boston R, Farrar J.T., Strom BL. Comparison of logistic regression versus propensity score when the number of events is low and there are multiple confounders. Am J Epidemiol 2003; 158:280-7.
32. Grabowski GA, Kacena K, Cole J.A., Hollak CE, Zhang L, Yee J, et al. Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1. Genet Med 2009; 11:92-100.
33. Maclure M. The case-crossover design: a method for studying transient effects on the risk of acute events. Am J Epidemiol 1991; 133:144-53.
34. Farrington CP, Nash J, Miller E. Case series analysis of adverse reactions to vaccines: a comparative evaluation. Am J Epidemiol 1996; 143:1165-73.
35. Schmidt-Pokrzywniak A., Jockel KH, Bornfeld N, Stang A. Case-control study on uveal melanoma (RIFA): rational and design. BMC Ophthalmol 2004; 4:11.
36. Schmidt-Pokrzywniak A., Jockel KH, Bornfeld N, Sauerwein W., Stang A. Positive interaction between light iris color and ultraviolet radiation in relation to the risk of uveal melanoma: a case-control study. Ophthalmology 2009; 116:340-8.
37. Schmidt-Pokrzywniak A., Jockel KH, Marr A, Bornfeld N., Stang A. A case-control study: occupational cooking and the risk of uveal melanoma. BMC Ophthalmol 2010; 10:26.
38. Stang A, Schmidt-Pokrzywniak A, Lash T.L., Lommatzsch PK, Taubert G, Bornfeld N, et al. Mobile phone use and risk of uveal melanoma: results of the risk factors for uveal melanoma case-control study. J Natl Cancer Inst 2009; 101:120-3.
39. Ray WA. Evaluating medication effects outside of clinical trials: new-user designs. Am J Epidemiol 2003; 158:915-20.
40. Armstrong-Wells J., Goldenberg NA. Institution-based prospective inception cohort studies in neonatal rare disease research. Semin Fetal Neonatal Med 2011; 16:355-8.
41. Bernard TJ, Armstrong-Wells J, Goldenberg NA. The institution-based prospective inception cohort study: design, implementation, and quality assurance in pediatric thrombosis and stroke research. Semin Thromb Hemost 2013; 39:10-4.
42. Nakamura C, Bromberg M, Bhargava S., Wicks P, Zeng-Treitler Q. Mining online social network data for biomedical research: a comparison of clinicians' and patients' perceptions about amyotrophic lateral sclerosis treatments. J Med Internet Res 2012; 14:e90.
43. Wicks P, Vaughan TE, Massagli M.P., Heywood J. Accelerated clinical discovery using self-reported patient data collected online and a patient-matching algorithm. Nat Biotechnol 2011; 29:411-4.
44. Barash JA, Desai RA, Patwa HS. Veterans health administration information systems as a resource for rare disorders research: Creutzfeldt-Jakob disease as a paradigm. Mil Med 2012; 177:1343-7.
45. Schick U, Bolukbasi Y, Thariat J., Abdah-Bortnyak R, Kuten A, Igdem S., et al. Outcome and prognostic factors in endometrial stromal tumors: a Rare Cancer Network study. Int J Radiat Oncol Biol Phys 2012; 82:e757-63.
46. Pugnet G, Sailler L, Bourrel R., Sommet A, Montastruc JL, Lapeyre-Mestre M. Pharmacoepidemiology as an opportunity for prognostic studies in rare diseases: the example of giant cell arteritis and the French APOGEE cohort (Arterite en Population Generale). Basic Clin Pharmacol Toxicol 2010; 10:533.
47. McCann LJ, Juggins AD, Maillard S.M., Wedderburn, LR, Davidson J.E., Murray KJ, et al. The Juvenile Dermatomyositis National Registry and Repository (UK and Ireland) - clinical characteristics of children recruited within the first 5 yr. Rheumatology (Oxford) 2006; 45:1255-60.
48. Ozsahin M, Gruber G, Olszyk O., Karakoyun-Celik O, Pehlivan B, Azria D., et al. Outcome and prognostic factors in olfactory neuroblastoma: a rare cancer network study. Int J Radiat Oncol Biol Phys 2010; 78:992-7.
49. Fasnacht MS, Tolsa JF, Beghetti M. The Swiss registry for pulmonary arterial hypertension: the paediatric experience. Swiss Med Wkly 2007; 137:510-3.
50. Sun P, Krueger D, Liu J., Guo A, Rogerio J, Kohrman M. Surgical resection of subependymal giant cell astrocytomas (SEGAs) and changes in SEGA-related conditions: a US national claims database study. Curr Med Res Opin 2012; 28:651-6.
51. Sun P, Kohrman M, Liu J., Guo A, Rogerio J, Krueger D. Outcomes of resecting subependymal giant cell astrocytoma (SEGA) among patients with SEGA-related tuberous sclerosis complex: a national claims database analysis. Curr Med Res Opin 2012; 28:657-63.