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

1 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. BlanchetteVS KeyNS LjungL 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 10.1111/jth.12672 25059285 Open DOISearch in Google Scholar

2 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. FischerK de KleijnP NegrierC The association of haemophilic arthropathy with health-related quality of life: a post hoc analysis Haemophilia 2016 22 6 833 840 10.1111/hae.13120 27785891 Open DOISearch in Google Scholar

3 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. FerreiraAA LeiteIC Bustamante-TeixeiraMT 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 10.5581/1516-8484.20130108 383231024255613 Open DOISearch in Google Scholar

4 Bastani P, Pourmohamadi K, Karimi M. Quality of life in hemophilia complicated by inhibitors. Iran Red Crescent Med J 2012; 14(4): 250–251. BastaniP PourmohamadiK KarimiM Quality of life in hemophilia complicated by inhibitors Iran Red Crescent Med J 2012 14 4 250 251 Search in Google Scholar

5 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. BrownTM LeeWC JoshiAV PashosCL Health-related quality of life and productivity impact in haemophilia patients with inhibitors Haemophilia 2009 15 4 911 7 10.1111/j.1365-2516.2009.02032.x 19473410 Open DOISearch in Google Scholar

6 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. ChenSL 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

7 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. RambodM SharifF MolazemZ KhairK von MackensenS Health-related quality of life and psychological aspects of adults with hemophilia in Iran Clin Appl Thromb Hemost 2018 24 7 1073 81 10.1177/1076029618758954 671475629575928 Open DOISearch in Google Scholar

8 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. ForsythAL WitkopM LambingA 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 10.2147/PPA.S87659 463141926604708 Open DOISearch in Google Scholar

9 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. CassisFRMY QuerolF ForsythA IorioA HERO International Advisory Board Psychosocial aspects of haemophilia: a systematic review of methodologies and findings Haemophilia 2012 18 e101 14 10.1111/j.1365-2516.2011.02683.x 22059839 Open DOISearch in Google Scholar

10 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. HartlHK ReitterS EidherU RamschakH AyC PabingerI The impact of severe haemophilia on the social status and quality of life among Austrian haemophiliacs Haemophilia 2008 14 4 703 8 10.1111/j.1365-2516.2008.01684.x 18384355 Open DOISearch in Google Scholar

11 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. CancliniM ZanonE GirolamiA Factors which may influence coping with disease in haemophilia patients Haemophilia 2004 10 5 675 10.1111/j.1365-2516.2004.01017.x 15357796 Open DOISearch in Google Scholar

12 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. HassanTH BadrMA FattahNR BadawySM Assessment of musculoskeletal function and mood in haemophilia A adolescents: a cross-sectional study Haemophilia 2011 17 4 683 8 10.1111/j.1365-2516.2010.02475.x 21371189 Open DOISearch in Google Scholar

13 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. KodraY CavazzaM SchieppatiA The social burden and quality of life of patients with haemophilia in Italy Blood Transfus 2014 12 3 567 75 10.2450/2014.0042-14s 404480424922297 Open DOISearch in Google Scholar

14 Handin R, Lux S, Stossel T. Blood: Principle and Practice of Hematology. 2nd edition. 2002. Philadelphia, PA: Lippincott Williams & Wilkins. HandinR LuxS StosselT Blood: Principle and Practice of Hematology 2nd edition 2002 Philadelphia, PA Lippincott Williams & Wilkins Search in Google Scholar

15 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. BarrRD SalehM FurlongW Health status and health-related quality of life associated with hemophilia Am J Hematol 2002 71 3 152 60 10.1002/ajh.10191 12410568 Open DOISearch in Google Scholar

16 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. GringeriA von MackensenS Quality of life in haemophilia Haemophilia 2008 14 Suppl 3 19 25 10.1111/j.1365-2516.2008.01709.x 18510517 Open DOISearch in Google Scholar

17 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. Saulyte TrakymieneS Steen CarlssonK On-demand treatment in persons with severe haemophilia Eur J Haematol Suppl 2014 76 39 47 10.1111/ejh.12373 24957106 Open DOISearch in Google Scholar

18 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). 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

19 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. DuncanN ShapiroA YeX EpsteinJ LuoMP 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 10.1111/j.1365-2516.2012.02813.x 22548353 Open DOISearch in Google Scholar

20 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. LambertT BensonG DolanG Practical aspects of extended half-life products for the treatment of haemophilia Ther Adv Hematol 2018 9 9 295 308 10.1177/2040620718796429 613010030210757 Open DOISearch in Google Scholar

21 Kootstra NA, Verma IM. Gene therapy with viral vectors. Ann Rev Pharmacol Toxicol 2003; 43(1): 413–39. KootstraNA VermaIM Gene therapy with viral vectors Ann Rev Pharmacol Toxicol 2003 43 1 413 39 10.1146/annurev.pharmtox.43.100901.14025712359866 Search in Google Scholar

22 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. NathwaniAC ReissUM TuddenhamEGD Long-term safety and efficacy of factor IX gene therapy in hemophilia B N Engl J Med 2014 371 1994 2004 10.1056/NEJMoa1407309 427880225409372 Open DOISearch in Google Scholar

23 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. Manco-JohnsonMJ AbshireTC ShapiroAD Prophylaxis versus episodic treatment to prevent joint disease in boys with severe hemophilia N Engl J Med 2007 357 535 44 10.1056/NEJMoa067659 17687129 Open DOISearch in Google Scholar

24 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. PasiKJ RangarajanS MitchellN Multiyear follow-up of AAV5-hFVIII-SQ gene therapy for hemophilia A N Engl J Med 2020 382 29 40 10.1056/NEJMoa1908490 31893514 Open DOISearch in Google Scholar

25 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. LiC SamulskiRJ Engineering adeno-associated virus vectors for gene therapy Nat Rev Genet 2020 21 4 255 272 10.1038/s41576-019-0205-4 32042148 Open DOISearch in Google Scholar

26 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). 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

27 National Institutes of Health, US National Library of Medicine. ClinicalTrials.gov. 2020. [database] Available from https://clinicaltrials.gov/ (accessed 14 April 2020). 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

28 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). 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

29 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. RentzA FloodE AltisentC 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 10.1111/j.1365-2516.2008.01812.x 18665853 Open DOISearch in Google Scholar

30 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. Chai-AdisaksophaC SkinnerMW CurtisR Psychometric properties of the Patient Reported Outcomes, Burdens and Experiences (PROBE) questionnaire BMJ Open 2018 8 8 e021900 10.1136/bmjopen-2018-021900 608931430093520 Open DOISearch in Google Scholar

31 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. Chai-AdisaksophaC SkinnerMW CurtisR Test-retest properties of the Patient Reported Outcomes, Burdens and Experiences (PROBE) questionnaire and its constituent domains Haemophilia 2019 25 1 75 83 10.1111/hae.13649 30520534 Open DOISearch in Google Scholar

32 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. Chai-AdisaksophaC SkinnerMW CurtisR 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 10.1111/hae.13703 30861270 Open DOISearch in Google Scholar

33 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. SkinnerMW Chai-AdisaksophaC CurtisR 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 10.1186/s40814-018-0253-0 582830729497561 Open DOISearch in Google Scholar

34 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. GusiN OlivaresPR RajendramR The EQ-5D health-related quality of life questionnaire In: PreedyVR WatsonRR (eds) Handbook of Disease Burdens and Quality of Life Measures New York, NY Springer 2010 87 99 10.1007/978-0-387-78665-0_5 Open DOISearch in Google Scholar

35 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. Van GenderenFR van MeeterenNL van der BomJG Functional consequences of haemophilia in adults: the development of the Haemophilia Activities List Haemophilia 2004 10 5 565 71 10.1111/j.1365-2516.2004.01016.x 15357785 Open DOISearch in Google Scholar

36 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. Van GenderenFR WestersP HeijnenL Measuring patients' perceptions on their functional abilities: validation of the Haemophilia Activities List Haemophilia 2006 12 1 36 46 10.1111/j.1365-2516.2006.01186.x 16409173 Open DOISearch in Google Scholar

37 Porter ME, Larsson S, Lee TH. Standardizing patient outcomes measurement. N Engl J Med 2016; 374(6): 504–506. doi: 10.1056/NEJMp1511701. PorterME LarssonS LeeTH Standardizing patient outcomes measurement N Engl J Med 2016 374 6 504 506 10.1056/NEJMp1511701 26863351 Open DOISearch in Google Scholar

38 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. AlbrechtG DevliegerP The disability paradox: high quality of life against all odds Soc Sci Med 1999 48 977 88 10.1016/s0277-9536(98)00411-0 Open DOISearch in Google Scholar

39 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). 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

40 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. IorioA SkinnerMW ClearfieldE Core outcome set for gene therapy in haemophilia: results of the coreHEM multistakeholder project Haemophilia 2018 24 4 e167 e172 10.1111/hae.13504 29781145 Open DOISearch in Google Scholar

41 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. MorelT CanoSJ 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 10.1186/s13023–017-0718-x Open DOISearch in Google Scholar