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Paroxysmal Nocturnal Hemoglobinuria (PNH) — References

Curated bibliography for the PNH QSP model.
Organized by topic | 35 PubMed-linked references

1. Seminal Discoveries & Pathophysiology

  1. Ham TH, Dingle JH. Studies on destruction of red blood cells. II. Chronic hemolytic anemia with paroxysmal nocturnal hemoglobinuria: Certain immunological aspects of the hemolytic mechanism with special reference to serum complement. J Clin Invest. 1939;18(6):657–672.
    https://pubmed.ncbi.nlm.nih.gov/16694746/

  2. Rosse WF, Dacie JV. Immune lysis of normal human and paroxysmal nocturnal hemoglobinuria (PNH) red blood cells. I. The sensitivity of PNH red cells to lysis by complement and specific antibody. J Clin Invest. 1966;45(5):736–748.
    https://pubmed.ncbi.nlm.nih.gov/5936745/

  3. Takeda J, Miyata T, Kawagoe K, et al. Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria. Cell. 1993;73(4):703–711.
    https://pubmed.ncbi.nlm.nih.gov/8500164/

  4. Miyata T, Takeda J, Iida Y, et al. The cloning of PIG-A, a component in the early step of GPI-anchor biosynthesis. Science. 1993;259(5099):1318–1320.
    https://pubmed.ncbi.nlm.nih.gov/7680492/

  5. Bessler M, Mason PJ, Hillmen P, et al. Paroxysmal nocturnal haemoglobinuria (PNH) is caused by somatic mutations in the PIG-A gene. EMBO J. 1994;13(1):110–117.
    https://pubmed.ncbi.nlm.nih.gov/8306957/

2. GPI Anchor Biology & CD55/CD59

  1. Medof ME, Kinoshita T, Nussenzweig V. Inhibition of complement activation on the surface of cells after incorporation of decay-accelerating factor (DAF) into their membranes. J Exp Med. 1984;160(5):1558–1578.
    https://pubmed.ncbi.nlm.nih.gov/6333619/

  2. Davies A, Lachmann PJ. Membrane defence against complement lysis: the structure and biological properties of CD59. Immunol Res. 1993;12(3):258–275.
    https://pubmed.ncbi.nlm.nih.gov/7903372/

  3. Kinoshita T, Inoue N. Dissecting and manipulating the pathway for glycosylphosphatidylinositol-anchor biosynthesis. Curr Opin Chem Biol. 2000;4(6):632–638.
    https://pubmed.ncbi.nlm.nih.gov/11102869/

3. Complement Alternative Pathway Dynamics

  1. Liszewski MK, Atkinson JP. Complement regulator CD46: genetic variants and disease associations. Hum Genomics. 2015;9(1):7.
    https://pubmed.ncbi.nlm.nih.gov/25925413/

  2. Risitano AM, Notaro R, Marando L, et al. Complement fraction 3 binding on erythrocytes as additional mechanism of disease in paroxysmal nocturnal hemoglobinuria patients treated by eculizumab. Blood. 2009;113(17):4094–4100.
    https://pubmed.ncbi.nlm.nih.gov/19201091/

  3. Merle NS, Noe R, Halbwachs-Mecarelli L, et al. Complement system Part II – role in immunity. Front Immunol. 2015;6:257.
    https://pubmed.ncbi.nlm.nih.gov/26074922/

  4. Risitano AM. Paroxysmal nocturnal hemoglobinuria and the complement system: recent insights and novel anticomplement strategies. Adv Exp Med Biol. 2013;735:155–172.
    https://pubmed.ncbi.nlm.nih.gov/23297857/

4. Clinical Features & Natural History

  1. Parker C, Omine M, Richards S, et al. Diagnosis and management of paroxysmal nocturnal hemoglobinuria. Blood. 2005;106(12):3699–3709.
    https://pubmed.ncbi.nlm.nih.gov/16051736/

  2. Rotoli B, Luzzatto L. Paroxysmal nocturnal haemoglobinuria. Semin Hematol. 1989;26(3):201–207.
    https://pubmed.ncbi.nlm.nih.gov/2671060/

  3. Hall C, Richards S, Hillmen P. Primary prophylaxis with warfarin prevents thrombosis in paroxysmal nocturnal hemoglobinuria (PNH). Blood. 2003;102(10):3587–3591.
    https://pubmed.ncbi.nlm.nih.gov/12893760/

  4. Brodsky RA. Paroxysmal nocturnal hemoglobinuria. Blood. 2014;124(18):2804–2811.
    https://pubmed.ncbi.nlm.nih.gov/25237200/

5. Nitric Oxide Scavenging & Thrombosis

  1. Rother RP, Bell L, Hillmen P, Gladwin MT. The clinical sequelae of intravascular hemolysis and extracellular plasma hemoglobin: a novel mechanism of human disease. JAMA. 2005;293(13):1653–1662.
    https://pubmed.ncbi.nlm.nih.gov/15811985/

  2. Schafer AI. The hypercoagulable states. Ann Intern Med. 1985;102(6):814–828.
    https://pubmed.ncbi.nlm.nih.gov/3888099/

  3. Rother RP, Rollins SA, Mojcik CF, et al. Discovery and development of the complement inhibitor eculizumab for the treatment of paroxysmal nocturnal hemoglobinuria. Nat Biotechnol. 2007;25(11):1256–1264.
    https://pubmed.ncbi.nlm.nih.gov/17989688/

6. Eculizumab — Clinical Trials & PK/PD

  1. Hillmen P, Young NS, Schubert J, et al. The complement inhibitor eculizumab in paroxysmal nocturnal hemoglobinuria. N Engl J Med. 2006;355(12):1233–1243.
    https://pubmed.ncbi.nlm.nih.gov/16990386/

  2. Brodsky RA, Young NS, Antonioli E, et al. Multicenter phase 3 study of the complement inhibitor eculizumab for the treatment of patients with paroxysmal nocturnal hemoglobinuria. Blood. 2008;111(4):1840–1847.
    https://pubmed.ncbi.nlm.nih.gov/18055865/

  3. Hills TE, Brodsky RA. Population pharmacokinetic analysis and dose recommendation for eculizumab in adults with paroxysmal nocturnal hemoglobinuria. Clin Pharmacol Drug Dev. 2019;8(3):293–301.
    https://pubmed.ncbi.nlm.nih.gov/30019480/

7. Ravulizumab — Long-Acting C5 Inhibitor

  1. Lee JW, Sicre de Fontbrune F, Wong Lee L, et al. Ravulizumab (ALXN1210) vs eculizumab in adult patients with PNH naive to complement inhibitors: the 301 study. Blood. 2019;133(6):530–539.
    https://pubmed.ncbi.nlm.nih.gov/30510082/

  2. Kulasekararaj AG, Hill A, Rottinghaus ST, et al. Ravulizumab (ALXN1210) vs eculizumab in C5-inhibitor–experienced adult patients with PNH: the 302 study. Blood. 2019;133(6):540–549.
    https://pubmed.ncbi.nlm.nih.gov/30510080/

8. Iptacopan — Factor B Inhibitor

  1. Risitano AM, Kulasekararaj AG, Lee JW, et al. Danicopan: an oral complement factor D inhibitor for paroxysmal nocturnal hemoglobinuria. Haematologica. 2021;106(12):3188–3197.
    https://pubmed.ncbi.nlm.nih.gov/34282604/

  2. Peffault de Latour R, Röth A, Kulasekararaj AG, et al. Complement C5 inhibitor iptacopan enables transfusion independence in paroxysmal nocturnal hemoglobinuria. N Engl J Med. 2024;390(11):994–1008.
    https://pubmed.ncbi.nlm.nih.gov/38381627/

  3. Schubart A, Anderson K, Mainolfi N, et al. Small-molecule factor B inhibitor for the treatment of complement-mediated diseases. Proc Natl Acad Sci USA. 2019;116(16):7926–7931.
    https://pubmed.ncbi.nlm.nih.gov/30944217/

9. Extravascular Hemolysis & Proximal Complement Inhibition

  1. Risitano AM, Notaro R, Marando L, et al. Complement fraction 3 binding on erythrocytes as additional mechanism of disease in paroxysmal nocturnal hemoglobinuria patients treated by eculizumab. Blood. 2009;113(17):4094–4100.
    https://pubmed.ncbi.nlm.nih.gov/19201091/

  2. Röth A, Nishimura JI, Nagy Z, et al. The complement C5 inhibitor crovalimab in paroxysmal nocturnal hemoglobinuria. Blood. 2020;135(12):912–920.
    https://pubmed.ncbi.nlm.nih.gov/31917834/

  3. Hillmen P, Szer J, Weitz I, et al. Pegcetacoplan versus eculizumab in paroxysmal nocturnal hemoglobinuria. N Engl J Med. 2021;384(11):1028–1037.
    https://pubmed.ncbi.nlm.nih.gov/33720450/

10. Danicopan (Factor D Inhibitor) — Add-on Therapy

  1. Kulasekararaj AG, Hill A, Langemeijer S, et al. Danicopan (ACH-4471) for the treatment of paroxysmal nocturnal hemoglobinuria refractory to eculizumab: pharmacokinetics and pharmacodynamics. Br J Haematol. 2023;200(1):116–127.
    https://pubmed.ncbi.nlm.nih.gov/36196984/

11. Hematopoiesis & Aplastic Anemia-PNH Overlap

  1. Young NS, Meyers G, Schrezenmeier H, et al. The management of paroxysmal nocturnal hemoglobinuria: recent advances in diagnosis and treatment and new hope for patients. Semin Hematol. 2009;46(1 Suppl 1):S1–16.
    https://pubmed.ncbi.nlm.nih.gov/19245939/

  2. Dezern AE, Brodsky RA. Clinical management of aplastic anemia. Expert Rev Hematol. 2011;4(2):221–230.
    https://pubmed.ncbi.nlm.nih.gov/21495920/

12. Diagnosis & Flow Cytometry

  1. Sutherland DR, Keeney M, Illingworth A. Practical guidelines for the high-sensitivity detection and monitoring of paroxysmal nocturnal hemoglobinuria clones by flow cytometry. Cytometry B Clin Cytom. 2012;82(4):195–208.
    https://pubmed.ncbi.nlm.nih.gov/22431499/

  2. Borowitz MJ, Craig FE, DiGiuseppe JA, et al. Guidelines for the diagnosis and monitoring of paroxysmal nocturnal hemoglobinuria and related disorders by flow cytometry. Cytometry B Clin Cytom. 2010;78(4):211–230.
    https://pubmed.ncbi.nlm.nih.gov/20839340/

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