The Case for the Use of Patient and Caregiver Perception of Change Assessments in Rare Disease Clinical Trials: A Methodologic Overview

Advances in Therapy

Volumn 36, Issue 5, 2019, Pages 997-1010

  Contesse, Marielle G ^a   Valentine, James E ^b   Wall, Tracy E ^c   Leffler, Mindy G ^a  

^a Casimir   (United States)

^b Hyman Phelps & McNamara PC   (United States)

^c Stealth BioTherapeutics   (United States)

Author keywords

Clinical outcome assessment; Genetic disease; Mixed methods research; Observer reported outcomes; Patient experience data; Patient focused drug development; Patient reported outcomes; Qualitative research; Rare diseases

Indexed keywords

CAREGIVER; CLINICAL TRIAL (TOPIC); HUMAN; ORGANIZATION AND MANAGEMENT; PATIENT PARTICIPATION; PSYCHOLOGY; RARE DISEASE; VIDEORECORDING;

CAREGIVERS; CLINICAL TRIALS AS TOPIC; HUMANS; PATIENT PARTICIPATION; RARE DISEASES; VIDEO RECORDING;

EID: 85063048521     PISSN: 0741238X     EISSN: 18658652     Source Type: Journal    
DOI: 10.1007/s12325-019-00920-x     Document Type: Article

References (66)

1. U.S. Department of Health and Human Services, Food and Drug Administration, Center for Drug Evaluation and Research, Center for Biologics Evaluation and Research. Rare diseases: common issues in drug development—guidance for industry. Silver Spring, MD; 2019.
2. Kempf L, Goldsmith JC, Temple R. Challenges of developing and conducting clinical trials in rare disorders. Am J Med Genet A. 2018;176:773–83.
3. Slade A, Isa F, Kyte D, et al. Patient reported outcome measures in rare diseases: a narrative review. Orphanet J Rare Dis. 2018;13:61.
4. NIH. FAQs About Rare Diseases | Genetic and Rare Diseases Information Center (GARD)—an NCATS Program [Internet]. 2017. https://rarediseases.info. nih.gov/diseases/pages/31/faqs-about-rare-diseases. Accessed 19 Sept 2018.
5. RARE Diseases: Facts and statistics [Internet]. Global Genes. 2012. http://globalgenes.org/rare-diseases-facts-statistics/. Accessed 19 Sept 2018.
6. NIH. Rare disease day at NIH 2018 [Internet]. National Center for Advancing Translational Sciences. 2018. https://ncats.nih.gov/rdd. Accessed 19 Sept 2018.
7. Augustine EF, Adams HR, Mink JW. Clinical trials in rare disease: challenges and opportunities. J Child Neurol. 2013;28:1142–50.
8. Benjamin K, Vernon MK, Patrick DL, Perfetto E, Nestler-Parr S, Burke L. Patient-reported outcome and observer-reported outcome assessment in rare disease clinical trials: an ISPOR COA emerging good practices task force report. Value Health. 2017;20:838–55.
9. Nony P, Kurbatova P, Bajard A, et al. A methodological framework for drug development in rare diseases. Orphanet J Rare Dis. 2014;9:164.
10. Bharmal M, Guillemin I, Marrel A, et al. How to address the challenges of evaluating treatment benefits-risks in rare diseases? A convergent mixed methods approach applied within a Merkel cell carcinoma phase 2 clinical trial. Orphanet J Rare Dis. 2018;13:95.
11. Morel T, Cano SJ. Measuring what matters to rare disease patients—reflections on the work by the IRDiRC taskforce on patient-centered outcome measures. Orphanet J Rare Dis. 2017;12:171.
12. Heneghan C, Goldacre B, Mahtani KR. Why clinical trial outcomes fail to translate into benefits for patients. Trials. 2017;18:122.
13. Basch E, Bennett AV. Patient-reported outcomes in clinical trials of rare diseases. J Gen Intern Med. 2014;29:801–3.
14. Ghosh A, Shapiro E, Rust S, et al. Recommendations on clinical trial design for treatment of mucopolysaccharidosis type III. Orphanet J Rare Dis. 2017;12:117.
15. Shapiro EG, Escolar ML, Delaney KA, Mitchell JJ. Assessments of neurocognitive and behavioral function in the mucopolysaccharidoses. Mol Genet Metab. 2017;122:8–16.
16. Woodcock J. The future of drug and device devel-opment: balancing benefit and risk [Internet]. 2016. https://cardiac-safety.org/wp-content/uploads/2016/10/S1_1_Woodcock.pdf. Accessed 17 Dec 2018.
17. 114th Congress. 21st Century Cures Act, H.R. 34 [Internet]. 2016. https://www.congress.gov/114/bills/hr34/BILLS-114hr34enr.pdf. Accessed 6 Nov 2018.
18. Van Norman GA. Drugs, devices, and the FDA: part 1: an overview of approval processes for drugs. JACC Basic Transl Sci. 2016;1:170–9.
19. Dabrowska A, Thaul S. How FDA approves drugs and regulates their safety and effectiveness [Inter-net]. 2018;31. https://fas.org/sgp/crs/misc/R41983. pdf. Accessed 2 Oct 2018.
20. Sasinowski FJ. Quantum of effectiveness evidence in FDA’s approval of orphan drugs: cataloging FDA’s flexibility in regulating therapies for persons with rare disorders. Drug Inf J. 2012;46:238–63.
21. Sasinowski FJ, Panico EB, Valentine JE. Quantum of effectiveness evidence in FDA’s approval of orphan drugs: update, July 2010 to June 2014. Ther Innov Regul Sci. 2015;49:680–97.
22. Pollack A. Advisers to FDA. Vote against Duchenne muscular dystrophy drug. N Y Times [Internet]. 2016. https://www.nytimes.com/2016/04/26/business/muscular-dystrophy-drug-fda-sarepta-eteplirsen. html. Accessed 21 Sept 2018.
23. Hogan M. What is efficacy? Defining a clinically meaningful change: a caregiver’s perspective on assessment of neurocognitive outcomes in people with inborn errors in metabolism. FDA; 2015.
24. Picavet E, Cassiman D, Simoens S. Reimbursement of orphan drugs in Belgium: what (else) matters? Orphanet J Rare Dis. 2014;9:139.
25. Nicod E, Kanavos P. Scientific and social value judgments for orphan drugs in health technology assessment. Int J Technol Assess Health Care. 2016;32:218–32.
26. Young A, Menon D, Street J, Al-Hertani W, Stafinski T. A checklist for managed access programmes for reimbursement co-designed by Canadian patients and caregivers. Health Expect. 2018;21:973–80.
27. Mincarone P, Leo CG, Sabina S, et al. Reimbursed price of orphan drugs: current strategies and potential improvements. Public Health Genomics. 2017;20:1–8.
28. Simoens S. Pricing and reimbursement of orphan drugs: the need for more transparency. Orphanet J Rare Dis. 2011;6:42.
29. Young A, Menon D, Street J, Al-Hertani W, Stafinski T. Exploring patient and family involvement in the lifecycle of an orphan drug: a scoping review. Orphanet J Rare Dis. 2017;12:188.
30. Douglas CMW, Wilcox E, Burgess M, Lynd LD. Why orphan drug coverage reimbursement decision-making needs patient and public involvement. Health Policy Amst Neth. 2015;119:588–96.
31. Janoudi G, Amegatse W, McIntosh B, Sehgal C, Richter T. Health technology assessment of drugs for rare diseases: insights, trends, and reasons for negative recommendations from the CADTH common drug review. Orphanet J Rare Dis. 2016;11:164.
32. Cohen JP, Awatin JG. Patient access to orphan drugs. Expert Opin Orphan Drugs. 2017;5:923–32.
33. Department of Health and Human Services. Guidelines for providing public comment to the Mainecare DUR Committee [Internet]. Augusta, Maine; 2011. http://www.mainecarepdl.org/sites/default/files/ghs-files/dur-miscellaneous/2011-01-19/guidelines-providing-public-comment-mainecare-dur-committee-1-18-11.pdf. Accessed 2 Oct 2018.
34. Iowa Medicaid Drug Utilization Review Commis-sion. Public comment policy [Internet]. Iowa. https://www.iadur.org/. Accessed 2 Oct 2018.
35. California HealthCare Foundation. In or out: an examination of Medicaid’s coverage determination policies [Internet]. 2015. https://www.chcf.org/wp-content/uploads/2017/12/PDF-InOutMedicaidDeter mination.pdf. Accessed 15 Feb 2019.
36. Hunter A, Facey K, Thomas V, et al. EUPATI Guidance for patient involvement in medicines research and development: health technology assessment. Front Med. 2018;5:231
37. Haerry D, Landgraf C, Warner K, et al. EUPATI and patients in medicines research and development: guidance for patient involvement in regulatory processes. Front Med. 2018;5:230.
38. U.S. Department of Health and Human Services, Food and Drug Administration, Center for Drug Evaluation and Research, Center for Biologics Evaluation and Research. Patient-focused drug development: collecting comprehensive and repre-sentative input. Silver Spring, MD; 2018.
39. Bloom D, Beetsch J, Harker M, et al. The rules of engagement: CTTI recommendations for successful collaborations between sponsors and patient groups around clinical trials. Ther Innov Regul Sci. 2018;52:206–13.
40. Chalasani M, Vaidya P, Mullin T. Enhancing the incorporation of the patient’s voice in drug development and evaluation. Res Involv Engagem. 2018;4:10.
41. FDA. Patient-focused drug development guidance public workshop: methods to identify what is important to patients and select, develop or modify fit-for-purpose clinical outcomes assessments [Inter-net]. 2018. https://www.fda.gov/downloads/Drugs/NewsEvents/UCM620707.pdf. Accessed 25 Sept 2018.
42. Dashiell-Aje E, Kovacs S. Opportunities: a regulatory perspective on the development of suit-able clinical outcome assessments for rare diseases. DIA Global Forum: Driving Insights to Action; 2018.
43. Saketkoo L, Mittoo S, Frankel S, et al. Reconciling healthcare professional and patient perspectives in the development of disease activity and response criteria in connective tissue disease related inter-stitial lung diseases. J Rheumatol. 2014;41:792–8.
44. CDER FDA. The voice of the patient: a series of reports from the U.S. Food and drug administration’s patient-focused drug development initia-tive—idiopathic pulmonary fibrosis. 2015. Silver Spring: US Food and Drug Administration.
45. FDA. FDA briefing document: peripheral and cen-tral nervous system drugs advisory committee meeting—NDA 206488 Eteplirsen [Internet]. 2016. https://www.fdanews.com/ext/resources/files/2016/01/01-15-FDA-eteplirsen.pdf?1520854314. Accessed 6 Nov 2018.
46. Aartsma-Rus A, Krieg AM. FDA approves eteplirsen for duchenne muscular dystrophy: the next chap-ter in the eteplirsen saga. Nucleic Acid Ther. 2017;27:1–3.
47. The Jett Foundation. Jett foundation to present patient centered outcomes report to FDA advisory committee on Duchenne treatment [Internet]. https://www.prnewswire.com/news-releases/jett-foundation-to-present-patient-centered-outcomes-report-to-fda-advisory-committee-on-duchenne-treat ment-300256548.html. Accessed 17 Dec 2017.
48. The Jett Foundation. Jett foundation report to FDA: patient and caregiver input on benefits and risks of eteplirsen [Internet]. 2015. https://www.jettfounda tion.org/blog/2017/5/16/jett-foundations-patient-reported-outcome-report-on-exondys-51. Accessed 17 Dec 2018.
49. Gelhorn HL, Kulke MH, O’Dorisio T, Yang QM, Jackson J, Jackson S, et al. Patient-reported symp-tom experiences in patients with carcinoid syndrome after participation in a study of telotristat etiprate: a qualitative interview approach. Clin Ther. 2016;38:759–68.
50. Kulke MH, Hörsch D, Caplin ME, et al. Telotristat ethyl, a tryptophan hydroxylase inhibitor for the treatment of carcinoid syndrome. J Clin Oncol. 2016;35:14–23.
51. Anthony L, Ervin C, Lapuerta P, et al. Understand-ing the patient experience with carcinoid syn-drome: exit interviews from a randomized, placebo-controlled study of telotristat ethyl. Clin Ther. 2017;39:2158–68.
52. FDA. Press announcements—FDA approves Xer-melo for carcinoid syndrome diarrhea [Internet]. 2017. https://www.fda.gov/newsevents/newsroom/pressannouncements/ucm544035.htm. Accessed 24 Sept 2018.
53. Lewin S, Glenton C, Oxman AD. Use of qualitative methods alongside randomised controlled trials of complex healthcare interventions: methodological study. BMJ. 2009;339:b3496.
54. O’Reilly-Shah VN. Factors influencing healthcare provider respondent fatigue answering a globally administered in-app survey. PeerJ [Internet]. 2017;5. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC56 00176/. Accessed 15 Feb 2015.
55. Egleston BL, Miller SM, Meropol NJ. The impact of misclassification due to survey response fatigue on estimation and identifiability of treatment effects. Stat Med. 2011;30:3560–72.
56. FDA. CDRH patient-reported outcomes (PRO) compendium—FDA [Internet]. https://www.fda. gov/downloads/AboutFDA/CentersOffices/Officeof MedicalProductsandTobacco/CDRH/CDRHVision andMission/UCM588577.xlsx. Accessed 15 Feb 2019.
57. Evidera. Pharmaceutical products approved by the FDA with PRO label information; updated through Q1 2018 [Internet]. 2018. https://www.evidera. com/wp-content/uploads/2018/05/PRO-Label-Data base-FDA-list-Q1-2018-.pdf. Accessed 15 Feb 2019.
58. Kovacs S. FDA perspective on clinical outcome assessments [Internet]. IMMPACT XX Meeting; 2017. http://www.immpact.org/static/meetings/Im mpact20/Kovacs%20Presentation.pdf. Accessed 15 Feb 2019.
59. FDA. Amitiza (Lubiprostone) Label, NDA021908 [Internet]. 2008. https://www.accessdata.fda.gov/drug satfda_docs/label/2008/021908s005lbl.pdf. Accessed 15 Feb 2019.
60. FDA. Evoxac (Cevimeline HCI), Medical Review Part 1, NDA 020989 [Internet]. 2000. https://www. accessdata.fda.gov/drugsatfda_docs/nda/2000/20-989_Evoxac_medr_P1.pdf. Accessed 15 Feb 2019.
61. FDA. Austedo (deutetrabenazine), Medical Review, NDA208082 [Internet]. 2016. https://www.acce ssdata.fda.gov/drugsatfda_docs/nda/2017/208082Or ig1s000MedR.pdf. Accessed 15 Feb 2019.
62. FDA. Kybella (deoxycholic acid), Medical Review, NDA 206333 [Internet]. 2015. https://www. accessdata.fda.gov/drugsatfda_docs/nda/2015/2063 33Orig1s000MedR.pdf. Accessed 15 Feb 2019.
63. FDA. Simponi (golimumab), Medical Review, BLA 125289 [Internet]. 2009. https://www.accessdata. fda.gov/drugsatfda_docs/nda/2009/125289_MedR_ P1.pdf. Accessed 15 Feb 2019.
64. FDA. Savella (milnacipran HCL), Medical Review, NDA 022256 [Internet]. 2008. https://www.acce ssdata.fda.gov/drugsatfda_docs/nda/2009/022256s 000_MedR_P1.pdf. Accessed 15 Feb 2019.
65. FDA. Banzel (rufinamide), Medical Review, NDA 021911 [Internet]. 2008. https://www.accessdata. fda.gov/drugsatfda_docs/nda/2008/021911s000_ MedR_P1.pdf. Accessed 15 Feb 2019.
66. O’Cathain A, Goode J, Drabble SJ, Thomas KJ, Rudolph A, Hewison J. Getting added value from using qualitative research with randomized controlled trials: a qualitative interview study. Trials. 2014;15:215.