“I’d go on a hike with my kids… that would make me feel so happy.” Recognising what people with haemophilia B identify as meaningful when considering personal goals and the potential for gene therapy

1. Iorio A, Stonebraker JS, Chambost H, et al.; Data and Demographics Committee of the World Federation of Hemophilia. Establishing the prevalence and prevalence at birth of hemophilia in males: a meta-analytic approach using national registries. Ann Intern Med 2019; 171(8): 540–546. doi: 10.7326/M19-1208. IorioA StonebrakerJS ChambostH Data and Demographics Committee of the World Federation of Hemophilia Establishing the prevalence and prevalence at birth of hemophilia in males: a meta-analytic approach using national registries Ann Intern Med 2019 171 8 540 546 10.7326/M19-1208 Open DOISearch in Google Scholar

2. Di Michele DM, Gibb C, Lefkowitz JM, Ni Q, Gerber LM, Ganguly A. Severe and moderate haemophilia A and B in US females. Haemophilia 2014; 20(2): e136–43. doi: 10.1111/hae.12364. Di MicheleDM GibbC LefkowitzJM NiQ GerberLM GangulyA Severe and moderate haemophilia A and B in US females Haemophilia 2014 20 2 e136 43 10.1111/hae.12364 Open DOISearch in Google Scholar

3. Blanchette VS, Key NS, Ljung LR, et al.; Subcommittee on Factor VIII, Factor IX and Rare Coagulation Disorders of the Scientific and Standardization Committee of the International Society on Thrombosis and Hemostasis. Definitions in hemophilia: communication from the SSC of the ISTH. J Thromb Haemost 2014; 12(11): 1935–9. doi: 10.1111/jth.12672. BlanchetteVS KeyNS LjungLR Subcommittee on Factor VIII, Factor IX and Rare Coagulation Disorders of the Scientific and Standardization Committee of the International Society on Thrombosis and Hemostasis Definitions in hemophilia: communication from the SSC of the ISTH J Thromb Haemost 2014 12 11 1935 9 10.1111/jth.12672 Open DOISearch in Google Scholar

4. Srivastava A, Santagostino E, Dougall A, et al. Guidelines for the management of hemophilia, 3rd edition. Haemophilia 2020; 26 (Suppl 6): 1–158. doi: 10.1111/j.1365-2516.2012.02909.x. SrivastavaA SantagostinoE DougallA Guidelines for the management of hemophilia, 3rd edition Haemophilia 2020 26 Suppl 6 1 158 10.1111/j.1365-2516.2012.02909.x Open DOISearch in Google Scholar

5. O’Hara J, Walsh S, Camp C, et al. The impact of severe haemophilia and the presence of target joints on health-related quality-of-life. Health Qual Life Outcomes 2018;16(1): 84. doi: 10.1186/s12955-018-0908-9. O’HaraJ WalshS CampC The impact of severe haemophilia and the presence of target joints on health-related quality-of-life Health Qual Life Outcomes 2018 16 1 84 10.1186/s12955-018-0908-9 Open DOISearch in Google Scholar

6. Cavazza, M., Kodra, Y., Armeni, P. et al. Social/economic costs and quality of life in patients with haemophilia in Europe. Eur J Health Econ 2016; 17 (Suppl 1): 53–65. doi: 10.1007/s10198-016-0785-2. CavazzaM. KodraY. ArmeniP Social/economic costs and quality of life in patients with haemophilia in Europe Eur J Health Econ 2016 17 Suppl 1 53 65 10.1007/s10198-016-0785-2 Open DOISearch in Google Scholar

7. Brod M, Bushnell DM, Neergaard JS, et al. Understanding treatment burden in hemophilia: development and validation of the Hemophilia Treatment Experience Measure (Hemo-TEM). J Patient Rep Outcomes 2023; 7: 17. doi: 10.1186/s41687/s4187-023-00550-6. BrodM BushnellDM NeergaardJS Understanding treatment burden in hemophilia: development and validation of the Hemophilia Treatment Experience Measure (Hemo-TEM) J Patient Rep Outcomes 2023 7 17 10.1186/s41687/s4187-023-00550-6 Open DOISearch in Google Scholar

8. Buckner TW, Batt K, Quon D, et al. Assessments of pain, functional impairment, anxiety, and depression in US adults with hemophilia across patient-reported outcome instruments in the Pain, Functional Impairment, and Quality of Life (P-FiQ) study. Eur J Haematol 2018; 100: 5–13. doi: 10.1111/ejh.13027. BucknerTW BattK QuonD Assessments of pain, functional impairment, anxiety, and depression in US adults with hemophilia across patient-reported outcome instruments in the Pain, Functional Impairment, and Quality of Life (P-FiQ) study Eur J Haematol 2018 100 5 13 10.1111/ejh.13027 Open DOISearch in Google Scholar

9. 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(6): 535–544. 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 6 535 544 10.1056/NEJMoa067659 Open DOISearch in Google Scholar

10. Thornburg CD. Physicians’ perceptions of adherence to prophylactic clotting factor infusions. Haemophilia 2008; 14(1): 25–9. doi: 10.1111/j.1365-2516.2007.01591.x. ThornburgCD Physicians’ perceptions of adherence to prophylactic clotting factor infusions Haemophilia 2008 14 1 25 9 10.1111/j.1365-2516.2007.01591.x Open DOISearch in Google Scholar

11. Mattis S, Barry V, Taylor N, et al. Disease-related distress among adults with haemophilia: A qualitative study. Haemophilia 2019; 25(6): 988–995. doi: 10.1111/hae.13850. MattisS BarryV TaylorN Disease-related distress among adults with haemophilia: A qualitative study Haemophilia 2019 25 6 988 995 10.1111/hae.13850 Open DOISearch in Google Scholar

12. Wiley RE, Khoury CP, Snihur AWK, et al. From the voices of people with haemophilia A and their caregivers: Challenges with current treatment, their impact on quality of life and desired improvements in future therapies. Haemophilia 2019; 25(3): 433–440. doi: 10.1111/hae.13754. WileyRE KhouryCP SnihurAWK From the voices of people with haemophilia A and their caregivers: Challenges with current treatment, their impact on quality of life and desired improvements in future therapies Haemophilia 2019 25 3 433 440 10.1111/hae.13754 Open DOISearch in Google Scholar

13. Mahlangu J, Iorio A, Kenet G. Emicizumab state-of-the-art update. Haemophilia 2022; 28(Suppl 4): 103–110. doi: 10.1111/hae.14524. MahlanguJ IorioA KenetG Emicizumab state-of-the-art update Haemophilia 2022 28 Suppl 4 103 110 10.1111/hae.14524 Open DOISearch in Google Scholar

14. Mancuso ME, Mahlangu JN, Pipe SW. The changing treatment landscape in haemophilia: from standard half-life clotting factor concentrates to gene editing. Lancet 2021; 397(10274): 630–640. doi: 10.1016/S0140-6736(20)32722-7. MancusoME MahlanguJN PipeSW The changing treatment landscape in haemophilia: from standard half-life clotting factor concentrates to gene editing Lancet 2021 397 10274 630 640 10.1016/S0140-6736(20)32722-7 Open DOISearch in Google Scholar

15. Ucero-Lozano R, Pérez-Llanes R, Cuesta-Barriuso R et al. Changes in quality of life, adherence, and kinesiophobia in patients with hemophilia treated with extended half-life treatment: Final results of the LongHest Project. Pharmaceuticals (Basel) 2024 J; 17(7): 835. doi: 10.3390/ph17070835. Ucero-LozanoR Pérez-LlanesR Cuesta-BarriusoR Changes in quality of life, adherence, and kinesiophobia in patients with hemophilia treated with extended half-life treatment: Final results of the LongHest Project Pharmaceuticals (Basel) 2024 J; 17 7 835 10.3390/ph17070835 Open DOISearch in Google Scholar

16. Konkle BA, Shapiro AD, Quon DV, et al. BIVV001 fusion protein as factor VIII replacement therapy for hemophilia A. N Engl J Med 2020; 383(11): 1018–1027. doi: 10.1182/blood.2019001292. KonkleBA ShapiroAD QuonDV BIVV001 fusion protein as factor VIII replacement therapy for hemophilia A N Engl J Med 2020 383 11 1018 1027 10.1182/blood.2019001292 Open DOISearch in Google Scholar

17. Pipe SW, Leebeek FWG, Recht M, et al. Gene therapy with etranacogene dezaparvovec for hemophilia B. N Engl J Med 2023; 388(8): 706–718. doi: 10.1056/NEJMoa2211644. PipeSW LeebeekFWG RechtM Gene therapy with etranacogene dezaparvovec for hemophilia B N Engl J Med 2023 388 8 706 718 10.1056/NEJMoa2211644 Open DOISearch in Google Scholar

18. Shah J, Kim H, Sivamurthy K, et al. Comprehensive analysis and prediction of long-term durability of factor IX activity following tranacogene dezaparvovec gene therapy in the treatment of hemophilia B. Curr Med Res Opin 2023; 39(2): 227–237. doi: 10.1080/03007995.2022.2133492. ShahJ KimH SivamurthyK Comprehensive analysis and prediction of long-term durability of factor IX activity following tranacogene dezaparvovec gene therapy in the treatment of hemophilia B Curr Med Res Opin 2023 39 2 227 237 10.1080/03007995.2022.2133492 Open DOISearch in Google Scholar

19. Mahlangu J, Kaczmarek R, DA von, et al. Two-year outcomes of valoctocogene roxaparvovec therapy for hemophilia A. N Engl J Med 2023; 388(8): 694–705. doi: 10.1056/NEJMoa2211075. MahlanguJ KaczmarekR DA von Two-year outcomes of valoctocogene roxaparvovec therapy for hemophilia A N Engl J Med 2023 388 8 694 705 10.1056/NEJMoa2211075 Open DOISearch in Google Scholar

20. Pierce GF, Herzog RW. Two gene therapies for hemophilia available: now what? Mol Ther 2023; 31(4): 919–920. doi: 10.1016/j.ymthe.2023.03.001. PierceGF HerzogRW Two gene therapies for hemophilia available: now what? Mol Ther 2023 31 4 919 920 10.1016/j.ymthe.2023.03.001 Open DOISearch in Google Scholar

21. Valentino LA, Blanchette V, Negrier C, et al. Personalising haemophilia management with shared decision making. J Haem Pract 2021; 8(1): 69–79. doi: 10.17225/jhp00178. ValentinoLA BlanchetteV NegrierC Personalising haemophilia management with shared decision making J Haem Pract 2021 8 1 69 79 10.17225/jhp00178 Open DOISearch in Google Scholar

22. Fletcher S, Jenner K, Pembroke L, et al. The experiences of people with haemophilia and their families of gene therapy in a clinical trial setting: regaining control, the Exigency study. Orphanet J Rare Dis 2022; 17(1): 155. doi: 10.1186/s13023-022-02256-2. FletcherS JennerK PembrokeL The experiences of people with haemophilia and their families of gene therapy in a clinical trial setting: regaining control, the Exigency study Orphanet J Rare Dis 2022 17 1 155 10.1186/s13023-022-02256-2 Open DOISearch in Google Scholar

23. Fletcher S, Jenner K, Holland M, et al. Barriers to gene therapy, understanding the concerns people with haemophilia have: an exigency sub-study. Orphanet J Rare Dis 2024; 19(1): 59. doi: 10.1186/s13023-024-03068-2. FletcherS JennerK HollandM Barriers to gene therapy, understanding the concerns people with haemophilia have: an exigency sub-study Orphanet J Rare Dis 2024 19 1 59 10.1186/s13023-024-03068-2 Open DOISearch in Google Scholar

24. Owen H. Open Space Technology: A User’s Guide. 3rd edn. San Francisco: Berrett-Koehler Publishers, Inc.; 2008. OwenH Open Space Technology: A User’s Guide 3rd edn. San Francisco Berrett-Koehler Publishers, Inc. 2008 Search in Google Scholar

25. Wang M, Negrier C, Driessler F, et al. The hemophilia gene therapy patient journey: Questions and answers for shared decision-making. Patient Prefer Adherence 2022; 16: 1439–1447. doi: 10.2147/PPA.S355627. WangM NegrierC DriesslerF The hemophilia gene therapy patient journey: Questions and answers for shared decision-making Patient Prefer Adherence 2022 16 1439 1447 10.2147/PPA.S355627 Open DOISearch in Google Scholar

26. UKRI Medical Research Council; NHS Health Research Authority. Is my study research? Available from https://www.hra-decisiontools.org.uk/research/ (accessed 01/07/2024). UKRI Medical Research Council; NHS Health Research Authority Is my study research? Available from https://www.hra-decisiontools.org.uk/research/ (accessed 01/07/2024). Search in Google Scholar

27. Glaser BG and Strauss AL. The Discovery of Grounded Theory: Strategies for Qualitative Research. New York: Aldine Publishing Company; 1967. GlaserBG StraussAL The Discovery of Grounded Theory: Strategies for Qualitative Research New York Aldine Publishing Company 1967 Search in Google Scholar

28. Charmaz K. Constructing Grounded Theory. 2nd edition. Introducing Qualitative Methods series. London: SAGE Publications; 2014. CharmazK Constructing Grounded Theory 2nd edition Introducing Qualitative Methods series. London SAGE Publications 2014 Search in Google Scholar

29. Gorman R, Woollard L. Is it time for patient involvement in Haemophilia? Haemophilia 2022; 28(3): e73–e74. doi: 10.1111/hae.14520. GormanR WoollardL Is it time for patient involvement in Haemophilia? Haemophilia 2022 28 3 e73 e74 10.1111/hae.14520 Open DOISearch in Google Scholar

30. 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): e167–72. 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 72 10.1111/hae.13504 Open DOISearch in Google Scholar

31. Woolley KL, Stones SR, Stephens R, et al. Patient authorship of medical research publications: An evolution, revolution, and solution? Learned Publishing 2024; 37: e1607. doi: 10.1002/leap.1607. WoolleyKL StonesSR StephensR Patient authorship of medical research publications: An evolution, revolution, and solution? Learned Publishing 2024 37 e1607 10.1002/leap.1607 Open DOISearch in Google Scholar

32. Baas L, Meijer K, Bredenoord AL, van der Graaf R. What is a cure through gene therapy? An analysis and evaluation of the use of “cure”. Med Health Care Philos 2024. doi: 10.1007/s11019-024-10223-w. Epub ahead of print. BaasL MeijerK BredenoordAL van der GraafR What is a cure through gene therapy? An analysis and evaluation of the use of “cure” Med Health Care Philos 2024 10.1007/s11019-024-10223-w Epub ahead of print. Open DOISearch in Google Scholar

33. Krumb E, Hermans C. Living with a “hemophilia-free mind” – the new ambition of hemophilia care? Res Pract Thromb Haemost 2021; 5(5): e12567. doi: 10.1002/rth2.12567. KrumbE HermansC Living with a “hemophilia-free mind” – the new ambition of hemophilia care? Res Pract Thromb Haemost 2021 5 5 e12567 10.1002/rth2.12567 Open DOISearch in Google Scholar

34. Hermans C, Pierce GF. Towards achieving a haemophilia-free mind. Haemophilia 2023; 29(4): 951–953. doi: 10.1111/hae.14807. HermansC PierceGF Towards achieving a haemophilia-free mind Haemophilia 2023 29 4 951 953 10.1111/hae.14807 Open DOISearch in Google Scholar

35. Hughes T, Brok-Kristensen, Gargeya Y, et al. “What more can we ask for?”: an ethnographic study of challenges and possibilities for people living with haemophilia. J Haem Pract 2020; 7(1): 25–36. doi: 10.17225/jhp00151. HughesT Brok-Kristensen GargeyaY “What more can we ask for?”: an ethnographic study of challenges and possibilities for people living with haemophilia J Haem Pract 2020 7 1 25 36 10.17225/jhp00151 Open DOISearch in Google Scholar

36. Hughes T, Brok-Kristensen M, Gargeya Y, et al. “He’s a normal kid now”: an ethnographic study of challenges and possibilities in a new era of haemophilia care. J Haem Pract 2020; 7(1): 150–157. doi: 10.17225/jhp00167. HughesT Brok-KristensenM GargeyaY “He’s a normal kid now”: an ethnographic study of challenges and possibilities in a new era of haemophilia care J Haem Pract 2020 7 1 150 157 10.17225/jhp00167 Open DOISearch in Google Scholar

37. O’Hara J, Martin AP, Nugent D, et al. Evidence of a disability paradox in patient-reported outcomes in haemophilia. Haemophilia 2021; 27(2): 245–252. doi: 10.1111/hae.14278. O’HaraJ MartinAP NugentD Evidence of a disability paradox in patient-reported outcomes in haemophilia Haemophilia 2021 27 2 245 252 10.1111/hae.14278 Open DOISearch in Google Scholar

38. Albrecht GL, Devlieger PJ. The disability paradox: high quality of life against all odds. Soc Sci Med 1999; 48(8): 977–88. doi: 10.1016/s0277-9536(98)00411-0. AlbrechtGL DevliegerPJ The disability paradox: high quality of life against all odds Soc Sci Med 1999 48 8 977 88 10.1016/s0277-9536(98)00411-0 Open DOISearch in Google Scholar

39. Shakespeare T. The social model of disability. In: Davis LJ (ed.). The Disability Studies Reader. 2nd ed. New York: Routledge; 2006. pp.197–204. ShakespeareT The social model of disability In: DavisLJ (ed.). The Disability Studies Reader 2nd ed. New York Routledge 2006 197 204 Search in Google Scholar

40. Goering S. Rethinking disability: the social model of disability and chronic disease. Curr Rev Musculoskeletal Med 2015; 8(2): 134–138. doi: 10.1007/s12178-015-9273-z. GoeringS Rethinking disability: the social model of disability and chronic disease Curr Rev Musculoskeletal Med 2015 8 2 134 138 10.1007/s12178-015-9273-z Open DOISearch in Google Scholar

41. Gorman R. Disabilities and geography. In: Warf B(ed.). The Encyclopedia of Human Geography. Springer; 2024. doi: 10.1007/978-3-031-25900-5 GormanR Disabilities and geography In: WarfB (ed.). The Encyclopedia of Human Geography Springer 2024 10.1007/978-3-031-25900-5 Open DOISearch in Google Scholar

42. Berntorp E, LeBeau P, Ragni MV, et al. Quality of life in a large multinational haemophilia B cohort (The B-Natural study) – Unmet needs remain. Haemophilia 2022; 28(3): 453–461. doi: 10.1111/hae.14525. BerntorpE LeBeauP RagniMV Quality of life in a large multinational haemophilia B cohort (The B-Natural study) – Unmet needs remain Haemophilia 2022 28 3 453 461 10.1111/hae.14525 Open DOISearch in Google Scholar

43. Barlow JH, Stapley J, Ellard DR. Living with haemophilia and von Willebrand’s: A descriptive qualitative study. Patient Educ Couns 2007; 68(3): 235–42. doi: 0.1016/j.pec.2007.06.006. BarlowJH StapleyJ EllardDR Living with haemophilia and von Willebrand’s: A descriptive qualitative study Patient Educ Couns 2007 68 3 235 42 0.1016/j.pec.2007.06.006 Open DOISearch in Google Scholar

44. Baas L, van der Graaf R, van Hoorn ES, et al. The ethics of gene therapy for hemophilia: a narrative review. J Thromb Haemost 2023; 21(3): 413–420. doi: 10.1016/j.jtha.2022.12.027. BaasL van der GraafR van HoornES The ethics of gene therapy for hemophilia: a narrative review J Thromb Haemost 2023 21 3 413 420 10.1016/j.jtha.2022.12.027 Open DOISearch in Google Scholar

45. NICE. Etranacogene dezaparvovec for treating moderately severe or severe haemophilia B. Technology appraisal guidance. TA989. Published 24 July 2024. https://www.nice.org.uk/guidance/TA989 (Accessed 19 October 2024). NICE Etranacogene dezaparvovec for treating moderately severe or severe haemophilia B. Technology appraisal guidance TA989. Published 24 July 2024. https://www.nice.org.uk/guidance/TA989 (Accessed 19 October 2024). Search in Google Scholar