The potential impact of gene therapy on health-related quality of life (HRQoL) domains in haemophilia

Bullinger, Monika; Gardner, Diandra Latibeaudiere; Lewis, Hannah B; Miesbach, Wolfgang; Nolte, Sandra; O’Hara, Jamie; O’Mahony, Brian; Pollard, Debra; Skinner, Mark; Quinn, Jennifer

doi:10.17225/jhp00176

References

Blanchette VS, Key NS, Ljung L, et al.; Subcommittee on Factor VIII, Factor IX and Rare Coagulation Disorders. Definitions in hemophilia: communication from the SSC of the ISTH. J Thromb Haemost 2014;12(11): 1935–1939. doi: 10.1111/jth.12672.
Open DOI Search in Google Scholar Back to article
Fischer K, de Kleijn P, Negrier C, et al. The association of haemophilic arthropathy with health-related quality of life: a post hoc analysis. Haemophilia 2016; 22(6): 833–840. doi: 10.1111/hae.13120.
Open DOI Search in Google Scholar Back to article
Ferreira AA, Leite IC, Bustamante-Teixeira MT, et al. Health-related quality of life in hemophilia: results of the hemophilia-specific quality of life index (Haem-a-Qol) at a Brazilian blood center. Rev Bras Hematol Hemoter 2013; 35(5): 314–318. doi: 10.5581/1516-8484.20130108.
Open DOI Search in Google Scholar Back to article
Bastani P, Pourmohamadi K, Karimi M. Quality of life in hemophilia complicated by inhibitors. Iran Red Crescent Med J 2012; 14(4): 250–251.
Search in Google Scholar Back to article
Brown TM, Lee WC, Joshi AV, Pashos CL. Health-related quality of life and productivity impact in haemophilia patients with inhibitors. Haemophilia 2009; 15(4): 911–7. doi: 10.1111/j.1365-2516.2009.02032.x.
Open DOI Search in Google Scholar Back to article
Chen SL. Economic costs of hemophilia and the impact of prophylactic treatment on patient management. Am J Manag Care 2016; 22(5 Suppl): s126–33.
Search in Google Scholar Back to article
Rambod M, Sharif F, Molazem Z, Khair K, von Mackensen S. Health-related quality of life and psychological aspects of adults with hemophilia in Iran. Clin Appl Thromb Hemost 2018; 24(7): 1073–81. doi: 10.1177/1076029618758954.
Open DOI Search in Google Scholar Back to article
Forsyth AL, Witkop M, Lambing A. Associations of quality of life, pain, and self-reported arthritis with age, employment, bleed rate, and utilization of hemophilia treatment center and health care provider services: results in adults with hemophilia in the HERO study. Patient Prefer Adherence 2015; 9: 1549–60. doi: 10.2147/PPA.S87659.
Open DOI Search in Google Scholar Back to article
Cassis FRMY, Querol F, Forsyth A, Iorio A; HERO International Advisory Board. Psychosocial aspects of haemophilia: a systematic review of methodologies and findings. Haemophilia 2012; 18: e101–14. doi: 10.1111/j.1365-2516.2011.02683.x.
Open DOI Search in Google Scholar Back to article
Hartl HK, Reitter S, Eidher U, Ramschak H, Ay C, Pabinger I. The impact of severe haemophilia on the social status and quality of life among Austrian haemophiliacs. Haemophilia 2008; 14(4): 703–8. doi: 10.1111/j.1365-2516.2008.01684.x.
Open DOI Search in Google Scholar Back to article
Canclini M, Zanon E, Girolami A. Factors which may influence coping with disease in haemophilia patients. Haemophilia 2004; 10(5): 675. doi: 10.1111/j.1365-2516.2004.01017.x.
Open DOI Search in Google Scholar Back to article
Hassan TH, Badr MA, Fattah NR, Badawy SM. Assessment of musculoskeletal function and mood in haemophilia A adolescents: a cross-sectional study. Haemophilia 2011; 17(4): 683–8. doi: 10.1111/j.1365-2516.2010.02475.x.
Open DOI Search in Google Scholar Back to article
Kodra Y, Cavazza M, Schieppati A, et al. The social burden and quality of life of patients with haemophilia in Italy. Blood Transfus 2014; 12(3): 567–75. doi: 10.2450/2014.0042-14s.
Open DOI Search in Google Scholar Back to article
Handin R, Lux S, Stossel T. Blood: Principle and Practice of Hematology. 2nd edition. 2002. Philadelphia, PA: Lippincott Williams & Wilkins.
Search in Google Scholar Back to article
Barr RD, Saleh M, Furlong W, et al. Health status and health-related quality of life associated with hemophilia. Am J Hematol 2002; 71(3): 152–60. doi: 10.1002/ajh.10191.
Open DOI Search in Google Scholar Back to article
Gringeri A, von Mackensen S. Quality of life in haemophilia. Haemophilia 2008; 14 (Suppl 3): 19–25. doi: 10.1111/j.1365-2516.2008.01709.x.
Open DOI Search in Google Scholar Back to article
Saulyte Trakymiene S, Steen Carlsson K. On-demand treatment in persons with severe haemophilia. Eur J Haematol Suppl 2014; 76: 39–47. doi: 10.1111/ejh.12373.
Open DOI Search in Google Scholar Back to article
Food and Drug Administration, US. FDA approves emicizumab-kxwh for hemophilia A with or without factor VIII inhibitors. 14 December 2018. Available from https://www.fda.gov/drugs/drug-approvals-and-databases/fda-approves-emicizumab-kxwh-hemophilia-or-without-factor-viii-inhibitors (accessed 9 April 2021).
Search in Google Scholar Back to article
Duncan N, Shapiro A, Ye X, Epstein J, Luo MP. Treatment patterns, health-related quality of life and adherence to prophylaxis among haemophilia A patients in the United States. Haemophilia 2012; 18(5): 760–5. doi: 10.1111/j.1365-2516.2012.02813.x.
Open DOI Search in Google Scholar Back to article
Lambert T, Benson G, Dolan G, et al. Practical aspects of extended half-life products for the treatment of haemophilia. Ther Adv Hematol 2018; 9(9): 295–308. doi: 10.1177/2040620718796429.
Open DOI Search in Google Scholar Back to article
Kootstra NA, Verma IM. Gene therapy with viral vectors. Ann Rev Pharmacol Toxicol 2003; 43(1): 413–39.
Search in Google Scholar Back to article
Nathwani AC, Reiss UM, Tuddenham EGD, et al. Long-term safety and efficacy of factor IX gene therapy in hemophilia B. N Engl J Med 2014; 371: 1994–2004. doi: 10.1056/NEJMoa1407309.
Open DOI Search in Google Scholar Back to article
Manco-Johnson MJ, Abshire TC, Shapiro AD, et al. Prophylaxis versus episodic treatment to prevent joint disease in boys with severe hemophilia. N Engl J Med 2007;357: 535–44. doi: 10.1056/NEJMoa067659.
Open DOI Search in Google Scholar Back to article
Pasi KJ, Rangarajan S, Mitchell N, et al. Multiyear follow-up of AAV5-hFVIII-SQ gene therapy for hemophilia A. N Engl J Med 2020; 382: 29–40. doi:10.1056/NEJMoa1908490.
Open DOI Search in Google Scholar Back to article
Li C, Samulski RJ. Engineering adeno-associated virus vectors for gene therapy. Nat Rev Genet 2020; 21(4): 255–272. doi: 10.1038/s41576-019-0205-4.
Open DOI Search in Google Scholar Back to article
National Institutes of Health, Department of Health and Human Services. NIH guidelines for research involving recombinant or synthetic nucleic acid molecules (NIH guidelines). April 2019. Available from https://osp.od.nih.gov/wp-content/uploads/NIH_Guidelines.pdf (accessed 8 March 2021).
Search in Google Scholar Back to article
National Institutes of Health, US National Library of Medicine. ClinicalTrials.gov. 2020. [database] Available from https://clinicaltrials.gov/ (accessed 14 April 2020).
Search in Google Scholar Back to article
BioMarin Pharmaceutical. Single-arm study to evaluate the efficacy and safety of valoctocogene roxaparvovec in hemophilia A patients (BMN 270–301). Available from https://clinicaltrials.gov/ct2/show/NCT03370913 (accessed 3 September 2020).
Search in Google Scholar Back to article
Rentz A, Flood E, Altisent C, et al.; Members of the HAEMOQoL-A Steering Committee. Cross-cultural development and psychometric evaluation of a patient-reported health-related quality of life questionnaire for adults with haemophilia. Haemophilia 2008; 14(5): 1023–34. doi: 10.1111/j.1365-2516.2008.01812.x.
Open DOI Search in Google Scholar Back to article
Chai-Adisaksopha C, Skinner MW, Curtis R, et al. Psychometric properties of the Patient Reported Outcomes, Burdens and Experiences (PROBE) questionnaire. BMJ Open 2018; 8(8): e021900. doi: 10.1136/bmjopen-2018-021900.
Open DOI Search in Google Scholar Back to article
Chai-Adisaksopha C, Skinner MW, Curtis R, et al. Test-retest properties of the Patient Reported Outcomes, Burdens and Experiences (PROBE) questionnaire and its constituent domains. Haemophilia 2019; 25(1): 75–83. doi: 10.1111/hae.13649.
Open DOI Search in Google Scholar Back to article
Chai-Adisaksopha C, Skinner MW, Curtis R, et al. Exploring regional variations in the cross-cultural, international implementation of the Patient Reported Outcomes Burdens and Experience (PROBE) study. Haemophilia 2019; 25(3): 365–72. doi: 10.1111/hae.13703.
Open DOI Search in Google Scholar Back to article
Skinner MW, Chai-Adisaksopha C, Curtis R, et al. The Patient Reported Outcomes, Burdens and Experiences (PROBE) Project: development and evaluation of a questionnaire assessing patient reported outcomes in people with haemophilia. Pilot Feasibility Stud 2018; 4: 58. doi: 10.1186/s40814-018-0253-0.
Open DOI Search in Google Scholar Back to article
Gusi N, Olivares PR, Rajendram R. The EQ-5D health-related quality of life questionnaire. In: Preedy VR, Watson RR (eds) Handbook of Disease Burdens and Quality of Life Measures. New York, NY: Springer; 2010: 87–99. doi: 10.1007/978-0-387-78665-0_5.
Open DOI Search in Google Scholar Back to article
Van Genderen FR, van Meeteren NL, van der Bom JG, et al. Functional consequences of haemophilia in adults: the development of the Haemophilia Activities List. Haemophilia 2004; 10(5): 565–71. doi: 10.1111/j.1365-2516.2004.01016.x.
Open DOI Search in Google Scholar Back to article
Van Genderen FR, Westers P, Heijnen L, et al. Measuring patients' perceptions on their functional abilities: validation of the Haemophilia Activities List. Haemophilia 2006; 12(1): 36–46. doi: 10.1111/j.1365-2516.2006.01186.x.
Open DOI Search in Google Scholar Back to article
Porter ME, Larsson S, Lee TH. Standardizing patient outcomes measurement. N Engl J Med 2016; 374(6): 504–506. doi: 10.1056/NEJMp1511701.
Open DOI Search in Google Scholar Back to article
Albrecht G, Devlieger P. The disability paradox: high quality of life against all odds. Soc Sci Med 1999; 48: 977–88. doi: 10.1016/s0277-9536(98)00411-0.
Open DOI Search in Google Scholar Back to article
eProvide. Search [database; search term “hemophilia”]. Available from https://eprovide.mapi-trust.org/search?form%5Bsearch-Text%5D=hemophilia&form%5BfromAutocomplete%5D=0&-form%5BsortByOrder%5D=&form%5Bpage%5D=1&form%5Bezxform_token%5D=U0MQXw_4nnrly2pvFc5mV-AxTqQrd-8sE-qMmq5XCQhA (accessed 14 April 2020).
Search in Google Scholar Back to article
Iorio A, Skinner MW, Clearfield E, et al. Core outcome set for gene therapy in haemophilia: results of the coreHEM multistakeholder project. Haemophilia 2018; 24(4): e167–e172. doi: 10.1111/hae.13504.
Open DOI Search in Google Scholar Back to article
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(1): 171. doi: 10.1186/s13023–017-0718-x.
Open DOI Search in Google Scholar Back to article

The potential impact of gene therapy on health-related quality of life (HRQoL) domains in haemophilia

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