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“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
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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).