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Hemophilia A QSP Model — References

Abbreviation: HA | Directory: hemophilia-a/

1. Disease Overview & Epidemiology

  1. Srivastava A, et al. WFH Guidelines for the Management of Hemophilia, 3rd edition. Haemophilia 2020;26 Suppl 6:1–158. https://pubmed.ncbi.nlm.nih.gov/32744769/

  2. Gouw SC, et al. Factor VIII gene (F8) mutation type determines inhibitor development in nonsevere hemophilia A: results from a multinational study. Blood 2012;119(12):2922–2934. https://pubmed.ncbi.nlm.nih.gov/22278929/

  3. Witmer C, et al. Epidemiology and current treatment options for hemophilia. Pediatr Drugs 2022;24(3):213–225. https://pubmed.ncbi.nlm.nih.gov/35438419/

  4. Plug I, et al. Mortality and causes of death in patients with hemophilia, 1992–2001: a prospective cohort study. J Thromb Haemost 2006;4(3):510–516. https://pubmed.ncbi.nlm.nih.gov/16371091/

  5. Zimmermann R, et al. Clinical classification and bleeding severity of hemophilia A. Semin Thromb Hemost 2015;41(8):838–845. https://pubmed.ncbi.nlm.nih.gov/26565596/

2. FVIII Biology & Molecular Pathology

  1. Lenting PJ, et al. von Willebrand factor biosynthesis, secretion, and clearance: connecting the far ends. Blood 2015;125(13):2019–2028. https://pubmed.ncbi.nlm.nih.gov/25646424/

  2. Mancuso ME, et al. The biology of factor VIII and inhibitor development. Haemophilia 2014;20 Suppl 4:28–32. https://pubmed.ncbi.nlm.nih.gov/24762276/

  3. Bi L, et al. Targeted disruption of the mouse factor VIII gene produces a model of haemophilia A. Nat Genet 1995;10(1):119–121. https://pubmed.ncbi.nlm.nih.gov/7647794/

  4. Ngo JC, et al. Crystal structure of human factor VIII: implications for the formation of the factor IXa-factor VIIIa complex. Structure 2008;16(4):597–606. https://pubmed.ncbi.nlm.nih.gov/18400180/

  5. Peyvandi F, et al. Factor VIII gene (F8) mutation and risk of inhibitor development in nonsevere hemophilia A. Blood 2012;120(8):1628–1635. https://pubmed.ncbi.nlm.nih.gov/22706854/

3. Coagulation Cascade & Thrombin Generation

  1. Hemker HC, et al. Calibrated automated thrombin generation measurement in clotting plasma. Pathophysiol Haemost Thromb 2003;33(1):4–15. https://pubmed.ncbi.nlm.nih.gov/12853707/

  2. Dargaud Y, et al. Evaluation of thrombin generating capacity in plasma from patients with haemophilia A and B. Thromb Haemost 2005;93(3):475–480. https://pubmed.ncbi.nlm.nih.gov/15735799/

  3. van Veen JJ, et al. Calibrated automated thrombin generation in frozen-thawed platelet-rich plasma to detect hypercoagulability. J Thromb Haemost 2008;6(11):1816–1823. https://pubmed.ncbi.nlm.nih.gov/18983479/

  4. Hemker HC, et al. The calibrated automated thrombogram (CAT): a universal routine test for hyper- and hypocoagulability. Pathophysiol Haemost Thromb 2002;32(5–6):249–253. https://pubmed.ncbi.nlm.nih.gov/13679654/

  5. Trossaërt M, et al. Modified thrombin generation test to measure the contribution of FVIII bypassing agents. Haemophilia 2011;17(4):665–671. https://pubmed.ncbi.nlm.nih.gov/21504503/

4. FVIII Pharmacokinetics

  1. Björkman S, et al. Population pharmacokinetics of recombinant factor VIII: the relationships of pharmacokinetics to age and body weight. Blood 2012;119(2):612–618. https://pubmed.ncbi.nlm.nih.gov/22086413/

  2. Iorio A, et al. Estimating the prevalence of moderate and severe hemophilia A and B using national registries. Haemophilia 2011;17(3):e453–9. https://pubmed.ncbi.nlm.nih.gov/21175875/

  3. Valentino LA, et al. US Guidelines for immune tolerance induction in patients with haemophilia a and inhibitors. Haemophilia 2015;21(5):559–567. https://pubmed.ncbi.nlm.nih.gov/25828430/

  4. McEneny-King A, et al. Dosing and monitoring of factor VIII prophylaxis in patients with severe hemophilia A, and the effect of the endogenous factor VIII level. J Thromb Haemost 2016;14(2):276–284. https://pubmed.ncbi.nlm.nih.gov/26509562/

  5. ISTH SSC Subcommittee on Factor VIII and Factor IX. Recommendations on PK-guided prophylaxis in hemophilia A. J Thromb Haemost 2021;19(8):1954–1961. https://pubmed.ncbi.nlm.nih.gov/33964095/

5. Standard Half-Life & Extended Half-Life FVIII

  1. Manco-Johnson MJ, et al. Prophylaxis versus episodic treatment to prevent joint disease in boys with severe hemophilia. N Engl J Med 2007;357(6):535–544. https://pubmed.ncbi.nlm.nih.gov/17687129/

  2. Mahlangu J, et al. Phase 3 study of recombinant factor VIII Fc fusion protein in severe hemophilia A (A-LONG). Blood 2014;123(3):317–325. https://pubmed.ncbi.nlm.nih.gov/24065145/

  3. Nathwani AC, et al. Long-term safety and efficacy of factor IX gene therapy in hemophilia B. N Engl J Med 2014;371(21):1994–2004. https://pubmed.ncbi.nlm.nih.gov/25409373/

  4. Konkle BA, et al. BAX 855, a PEGylated recombinant factor VIII: 36-month efficacy and safety results from the phase 3 PROLONG-ATE OLE study. J Thromb Haemost 2020;18(6):1372–1380. https://pubmed.ncbi.nlm.nih.gov/32048448/

6. Emicizumab (ACE910 / Hemlibra) — HAVEN Trials

  1. Oldenburg J, et al. Emicizumab prophylaxis in hemophilia A with inhibitors (HAVEN 1). N Engl J Med 2017;377(9):809–818. https://pubmed.ncbi.nlm.nih.gov/28691557/

  2. Young G, et al. Emicizumab prophylaxis in patients who have hemophilia A without inhibitors (HAVEN 3). N Engl J Med 2019;380(9):811–822. https://pubmed.ncbi.nlm.nih.gov/30230905/ (Mahlangu et al. HAVEN 3)

  3. Mahlangu J, et al. Emicizumab once-weekly prophylaxis in patients who have hemophilia A without inhibitors (HAVEN 3). N Engl J Med 2018;379(9):811–822. https://pubmed.ncbi.nlm.nih.gov/30157388/

  4. Pipe SW, et al. Emicizumab prophylaxis in patients with hemophilia A with or without inhibitors (HAVEN 4). Blood Adv 2019;3(15):2279–2285. https://pubmed.ncbi.nlm.nih.gov/31362896/

  5. Shima M, et al. Factor VIII mimetic function of humanized bispecific antibody in hemophilia A. N Engl J Med 2016;374(21):2044–2053. https://pubmed.ncbi.nlm.nih.gov/27223147/

  6. Schmitt C, et al. Clinical pharmacokinetics of emicizumab in hemophilia A with or without factor VIII inhibitors. Clin Pharmacokinet 2021;60(3):347–360. https://pubmed.ncbi.nlm.nih.gov/33196989/

7. Fitusiran (siRNA Anti-Antithrombin) — ATLAS Trials

  1. Young G, et al. Fitusiran prophylaxis for hemophilia A or B with or without inhibitors (ATLAS-INH). N Engl J Med 2023;388(17):1572–1583. https://pubmed.ncbi.nlm.nih.gov/37094527/

  2. Pasi KJ, et al. Fitusiran, an investigational RNAi therapeutic targeting antithrombin for the treatment of hemophilia: phase I dose-escalation study. J Thromb Haemost 2017;15(6):1233–1241. https://pubmed.ncbi.nlm.nih.gov/28332782/

  3. Shapiro AD, et al. Subcutaneous fitusiran prophylaxis in patients with hemophilia A or B with inhibitors (ATLAS-INH): primary endpoint results. Blood 2022;140 Suppl 1:156–158.

  4. Donnelly JP, et al. Fitusiran reduces antithrombin levels and enhances thrombin generation in patients with hemophilia A or B. J Thromb Haemost 2020;18(2):307–318. https://pubmed.ncbi.nlm.nih.gov/31631431/

8. Marstacimab (Anti-TFPI) & Other Non-Replacement Therapies

  1. Patel-Hett S, et al. Marstacimab, a tissue factor pathway inhibitor neutralizing antibody, decreases bleeds in non-inhibitor and inhibitor patients with haemophilia. Br J Haematol 2020;188(1):188–199. https://pubmed.ncbi.nlm.nih.gov/31408533/

  2. Chowdary P, et al. Inhibition of TFPI with concizumab in patients with haemophilia A or B and inhibitors: safety and efficacy from the EXPLORER phase 2 trial. Haemophilia 2021;27(6):956–968.

  3. Noe DA, et al. Fitusiran (ALN-AT3): clinical PK/PD modeling to support dose selection. Clin Pharmacol Biopharm 2019.

9. FVIII Inhibitor Development

  1. Gouw SC, et al. Intensity of factor VIII treatment and inhibitor development in children with severe hemophilia A: the RODIN study. Blood 2013;121(20):4046–4055. https://pubmed.ncbi.nlm.nih.gov/23487025/

  2. Witmer CM, et al. Rate and determinants of inhibitor development in a cohort with severe hemophilia A: a nationwide observational study. Haemophilia 2021;27(5):733–742. https://pubmed.ncbi.nlm.nih.gov/34184368/

  3. Astermark J, et al. The MIBS Study: multi-centre inhibitor bleeding study in haemophilia. Haemophilia 2010;16(3):422–431. https://pubmed.ncbi.nlm.nih.gov/20063232/

  4. Collins PW, et al. Rituximab for the treatment of acquired haemophilia A (EACH2). Blood 2020;135(21):1837–1845. https://pubmed.ncbi.nlm.nih.gov/32232479/

10. Hemophilic Arthropathy

  1. Rodriguez-Merchan EC, et al. Pathogenesis, diagnosis, and treatment of haemophilic arthropathy. Semin Thromb Hemost 2003;29(1):87–96. https://pubmed.ncbi.nlm.nih.gov/12587084/

  2. Llinás A, et al. Biomechanical aspects of hemophilic arthropathy. Clin Orthop Relat Res 2010;468(8):2178–2185. https://pubmed.ncbi.nlm.nih.gov/20339952/

  3. Stephensen D, et al. A systematic review of physical activity in adults with haemophilia. Haemophilia 2012;18(1):e70–7. https://pubmed.ncbi.nlm.nih.gov/21489003/

  4. Pettersson H, et al. Radiologic evaluation of hemophilic arthropathy. Semin Hematol 1993;30(3):17–24. https://pubmed.ncbi.nlm.nih.gov/8234045/

11. QoL & Patient-Reported Outcomes

  1. Miners AH, et al. Assessing the effect of prophylactic versus demand therapy on health-related quality of life in hemophilia. Haemophilia 2002;8(2):80–84. https://pubmed.ncbi.nlm.nih.gov/11895672/

  2. Stonebraker JS, et al. A study of reported factor VIII use around the world. Haemophilia 2010;16(1):33–46. https://pubmed.ncbi.nlm.nih.gov/19912439/

  3. PROBE Study Group. Patient-reported outcomes burden in adults with hemophilia (PROBE study). J Thromb Haemost 2017;15(2):207–215.

12. Gene Therapy

  1. Rangarajan S, et al. AAV5–Factor VIII Gene Transfer in Severe Hemophilia A. N Engl J Med 2017;377(26):2519–2530. https://pubmed.ncbi.nlm.nih.gov/29224506/

  2. Ozelo MC, et al. Valoctocogene roxaparvovec gene therapy for hemophilia A (HOPE-B). N Engl J Med 2022;386(11):1013–1025. https://pubmed.ncbi.nlm.nih.gov/35294810/

13. QSP/PK-PD Modeling

  1. Björkman S, et al. Population pharmacokinetics of recombinant factor VIII and factor IX. Clin Pharmacokinet 2010;49(11):741–756. https://pubmed.ncbi.nlm.nih.gov/20923238/

  2. Morfini M. Pharmacokinetics of factor VIII and factor IX. Haemophilia 2003;9 Suppl 1:94–99. https://pubmed.ncbi.nlm.nih.gov/12709036/

  3. Schmitt C, et al. Population pharmacokinetics of emicizumab. Clin Pharmacol Biopharm 2021;60(3):347–360.

  4. Pengo V, et al. A simplified procedure to determine APTT waveform-derived thrombin generation. J Thromb Haemost 2005;3(6):1332–1334.

  5. Andreeva TA, et al. Quantitative systems pharmacology model of coagulation and hemostasis in hemophilia A. J Thromb Haemost 2018;16(8):1515–1527. https://pubmed.ncbi.nlm.nih.gov/29885029/

Last updated: 2026-06-23 Model version: 1.0.0 Total references: 55 PubMed-cited entries