This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.
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.BlanchetteVSKeyNSLjungLSubcommittee on Factor VIII, Factor IX and Rare Coagulation Disorders. Definitions in hemophilia: communication from the SSC of the ISTH201412111935193910.1111/jth.1267225059285Open DOISearch in Google Scholar
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.FischerKde KleijnPNegrierCThe association of haemophilic arthropathy with health-related quality of life: a post hoc analysis201622683384010.1111/hae.1312027785891Open DOISearch in Google Scholar
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.FerreiraAALeiteICBustamante-TeixeiraMTHealth-related quality of life in hemophilia: results of the hemophilia-specific quality of life index (Haem-a-Qol) at a Brazilian blood center201335531431810.5581/1516-8484.20130108383231024255613Open DOISearch in Google Scholar
Bastani P, Pourmohamadi K, Karimi M. Quality of life in hemophilia complicated by inhibitors. Iran Red Crescent Med J 2012; 14(4): 250–251.BastaniPPourmohamadiKKarimiMQuality of life in hemophilia complicated by inhibitors2012144250251Search in Google Scholar
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.BrownTMLeeWCJoshiAVPashosCLHealth-related quality of life and productivity impact in haemophilia patients with inhibitors2009154911710.1111/j.1365-2516.2009.02032.x19473410Open DOISearch in Google Scholar
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.ChenSLEconomic costs of hemophilia and the impact of prophylactic treatment on patient management2016225 Suppls12633Search in Google Scholar
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.RambodMSharifFMolazemZKhairKvon MackensenSHealth-related quality of life and psychological aspects of adults with hemophilia in Iran201824710738110.1177/1076029618758954671475629575928Open DOISearch in Google Scholar
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.ForsythALWitkopMLambingAAssociations 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 study2015915496010.2147/PPA.S87659463141926604708Open DOISearch in Google Scholar
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.CassisFRMYQuerolFForsythAIorioAHERO International Advisory BoardPsychosocial aspects of haemophilia: a systematic review of methodologies and findings201218e1011410.1111/j.1365-2516.2011.02683.x22059839Open DOISearch in Google Scholar
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.HartlHKReitterSEidherURamschakHAyCPabingerIThe impact of severe haemophilia on the social status and quality of life among Austrian haemophiliacs2008144703810.1111/j.1365-2516.2008.01684.x18384355Open DOISearch in Google Scholar
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.CancliniMZanonEGirolamiAFactors which may influence coping with disease in haemophilia patients200410567510.1111/j.1365-2516.2004.01017.x15357796Open DOISearch in Google Scholar
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.HassanTHBadrMAFattahNRBadawySMAssessment of musculoskeletal function and mood in haemophilia A adolescents: a cross-sectional study2011174683810.1111/j.1365-2516.2010.02475.x21371189Open DOISearch in Google Scholar
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.KodraYCavazzaMSchieppatiAThe social burden and quality of life of patients with haemophilia in Italy20141235677510.2450/2014.0042-14s404480424922297Open DOISearch in Google Scholar
Handin R, Lux S, Stossel T. Blood: Principle and Practice of Hematology. 2nd edition. 2002. Philadelphia, PA: Lippincott Williams & Wilkins.HandinRLuxSStosselT2nd edition2002Philadelphia, PALippincott Williams & WilkinsSearch in Google Scholar
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.BarrRDSalehMFurlongWHealth status and health-related quality of life associated with hemophilia20027131526010.1002/ajh.1019112410568Open DOISearch in Google Scholar
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.GringeriAvon MackensenSQuality of life in haemophilia200814Suppl 3192510.1111/j.1365-2516.2008.01709.x18510517Open DOISearch in Google Scholar
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 TrakymieneSSteen CarlssonKOn-demand treatment in persons with severe haemophilia201476394710.1111/ejh.1237324957106Open DOISearch in Google Scholar
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, US14December2018Available 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
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.DuncanNShapiroAYeXEpsteinJLuoMPTreatment patterns, health-related quality of life and adherence to prophylaxis among haemophilia A patients in the United States2012185760510.1111/j.1365-2516.2012.02813.x22548353Open DOISearch in Google Scholar
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.LambertTBensonGDolanGPractical aspects of extended half-life products for the treatment of haemophilia20189929530810.1177/2040620718796429613010030210757Open DOISearch in Google Scholar
Kootstra NA, Verma IM. Gene therapy with viral vectors. Ann Rev Pharmacol Toxicol 2003; 43(1): 413–39.KootstraNAVermaIMGene therapy with viral vectors20034314133910.1146/annurev.pharmtox.43.100901.14025712359866Search in Google Scholar
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.NathwaniACReissUMTuddenhamEGDLong-term safety and efficacy of factor IX gene therapy in hemophilia B20143711994200410.1056/NEJMoa1407309427880225409372Open DOISearch in Google Scholar
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-JohnsonMJAbshireTCShapiroADProphylaxis versus episodic treatment to prevent joint disease in boys with severe hemophilia20073575354410.1056/NEJMoa06765917687129Open DOISearch in Google Scholar
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.PasiKJRangarajanSMitchellNMultiyear follow-up of AAV5-hFVIII-SQ gene therapy for hemophilia A2020382294010.1056/NEJMoa190849031893514Open DOISearch in Google Scholar
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.LiCSamulskiRJEngineering adeno-associated virus vectors for gene therapy202021425527210.1038/s41576-019-0205-432042148Open DOISearch in Google Scholar
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 ServicesApril2019Available from https://osp.od.nih.gov/wp-content/uploads/NIH_Guidelines.pdf (accessed 8 March 2021).Search in Google Scholar
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 Medicine2020[database] Available from https://clinicaltrials.gov/ (accessed 14 April 2020).Search in Google Scholar
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 PharmaceuticalAvailable from https://clinicaltrials.gov/ct2/show/NCT03370913 (accessed 3 September 2020).Search in Google Scholar
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.RentzAFloodEAltisentCMembers of the HAEMOQoL-A Steering CommitteeCross-cultural development and psychometric evaluation of a patient-reported health-related quality of life questionnaire for adults with haemophilia200814510233410.1111/j.1365-2516.2008.01812.x18665853Open DOISearch in Google Scholar
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-AdisaksophaCSkinnerMWCurtisRPsychometric properties of the Patient Reported Outcomes, Burdens and Experiences (PROBE) questionnaire201888e02190010.1136/bmjopen-2018-021900608931430093520Open DOISearch in Google Scholar
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-AdisaksophaCSkinnerMWCurtisRTest-retest properties of the Patient Reported Outcomes, Burdens and Experiences (PROBE) questionnaire and its constituent domains2019251758310.1111/hae.1364930520534Open DOISearch in Google Scholar
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-AdisaksophaCSkinnerMWCurtisRExploring regional variations in the cross-cultural, international implementation of the Patient Reported Outcomes Burdens and Experience (PROBE) study20192533657210.1111/hae.1370330861270Open DOISearch in Google Scholar
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.SkinnerMWChai-AdisaksophaCCurtisRThe Patient Reported Outcomes, Burdens and Experiences (PROBE) Project: development and evaluation of a questionnaire assessing patient reported outcomes in people with haemophilia201845810.1186/s40814-018-0253-0582830729497561Open DOISearch in Google Scholar
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.GusiNOlivaresPRRajendramRThe EQ-5D health-related quality of life questionnaireIn:PreedyVRWatsonRR(eds)New York, NYSpringer2010879910.1007/978-0-387-78665-0_5Open DOISearch in Google Scholar
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 GenderenFRvan MeeterenNLvan der BomJGFunctional consequences of haemophilia in adults: the development of the Haemophilia Activities List20041055657110.1111/j.1365-2516.2004.01016.x15357785Open DOISearch in Google Scholar
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 GenderenFRWestersPHeijnenLMeasuring patients' perceptions on their functional abilities: validation of the Haemophilia Activities List2006121364610.1111/j.1365-2516.2006.01186.x16409173Open DOISearch in Google Scholar
Porter ME, Larsson S, Lee TH. Standardizing patient outcomes measurement. N Engl J Med 2016; 374(6): 504–506. doi: 10.1056/NEJMp1511701.PorterMELarssonSLeeTHStandardizing patient outcomes measurement2016374650450610.1056/NEJMp151170126863351Open DOISearch in Google Scholar
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.AlbrechtGDevliegerPThe disability paradox: high quality of life against all odds1999489778810.1016/s0277-9536(98)00411-0Open DOISearch in Google Scholar
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).eProvideAvailable 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
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.IorioASkinnerMWClearfieldECore outcome set for gene therapy in haemophilia: results of the coreHEM multistakeholder project2018244e167e17210.1111/hae.1350429781145Open DOISearch in Google Scholar
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.MorelTCanoSJMeasuring what matters to rare disease patients–reflections on the work by the IRDiRC taskforce on patient-centered outcome measures201712117110.1186/s13023–017-0718-xOpen DOISearch in Google Scholar