Current Environment:

For many children with rare or hard-to-treat conditions, research provides an opportunity for patients, families, providers, and scientists to better understand the disease, how to manage it, and potentially to develop new treatment options. There are dozens of clinical trials currently open and listed on clinicaltrials.gov for patients with bleeding disorders. We offer clinical studies in hemophilia, von Willebrand disease, and young women with bleeding disorders that are developed and led at our center, as well as those sponsored by other institutions and pharmaceutical companies.

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Learn about our patients and their families whose experiences with bleeding disorders offer hope and help to others.

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Gene therapy trials in hemophilia

Gene Therapy provides an opportunity to provide the body with instructions on how to make a particularly protein. In the case of hemophilia, these proteins are factor VIII or factor IX.

  • Phase I/II dose escalation study of a recombinant adeno-associated viral vector to drive expression of a B-domain-deleted human factor VIII transgene to raise the circulating activity levels of endogenous FVIII in adult patients with severe hemophilia A
  • A Multi-Center Evaluation of the Long-Term Safety and Efficacy of SPK-8011 [Adeno-Associated Viral Vector with B-Domain Deleted Human Factor VIII Gene] in Males with Hemophilia A

Observational bleeding disorders studies

Hemophilia and associated bleeding disorders

  • CDC Public Health Surveillance for Bleeding Disorders: The purpose of this project is to monitor the health status of people with hemophilia and other bleeding disorders. This will help HTCs and CDC better understand the health issues of people with bleeding disorders.

Publications highlighting prior clinical trials and clinical-care innovations

Hemophilia

  • Natural History Study of Factor IX Deficiency with Focus on Treatment and Complications (B-Natural. Shapiro AD, Ragni M, Borhany M, Abajas Y, Tarantino M, Holstein K, Croteau SE, Liesner R, Tarango C, Carvalho M, McGuinn C, Funding E, Kempton CL, Bidlingmaier C, Cohen A, Oldenburg J, Kearney S, Knoll C, Kuriakose P, Acharya S, Reiss U, Kulkarni R, Shullick M, Lethagen S, Donfield S, LeBeau P, Berntorp E, Astermark J. Haemophilia, 2020. doi: 10.1111/hae.14139.
  • Ragni MV, Young G, Batsuli G, Bisson E, Carpenter SL, Croteau SE, Cuker A, Curtis RG, Denne M, Ewenstein B, Federizo A, Frick N, Funkhouser K, George LA, Hoots WK, Jobe SM, Krava E, Langmead CJ, Lewis RJ, López J, Malec L, Mann Z, Miles ME 3rd, Neely E, Neufeld EJ, Pierce GF, Pipe SW, Pitler LR, Raffini L, Schnur KM, Shavit JA. Building the foundation for a community-generated national research blueprint for inherited bleeding disorders: facilitating research through infrastructure, workforce, resources and funding. Expert Rev Hematol. 2023 Mar;16(sup1):107-127. doi: 10.1080/17474086.2023.2181781. PMID: 36920855.
  • Croteau SE, Wang M, Wheeler AP. 2021 clinical trials update: Innovations in hemophilia therapy. Am J Hematol. 2021 Jan;96(1):128-144. doi: 10.1002/ajh.26018
  • Kruse-Jarres R, Peyvandi F, Oldenburg J, Chang T, Chebon S, Doral MY, Croteau SE, Lambert T, Kempton CL, Pipe SW, Ko RH, Trzaskoma B, Dhalluin C, Bienz NS, Niggli M, Lehle M, Paz-Priel I, Young G, Jiménez-Yuste V. Surgical outcomes in people with hemophilia A taking emicizumab prophylaxis: experience from the HAVEN 1-4 studies. Blood Adv. 2022 Dec 27;6(24):6140-6150. doi: 10.1182/bloodadvances.2022007458. PMID: 35939785; PMCID: PMC9768240.
  • Byams VR, Baker JR, Bailey C, Connell NT, Creary MS, Curtis RG, Dinno A, Guelcher CJ, Kim M, Kulkarni R, Lattimore S, Norris KL, Ramirez L, Skinner MW, Symington S, Tobase P, Vázquez E, Warren BB, Wheat E, Buckner TW. Building the foundation for a community-generated national research blueprint for inherited bleeding disorders: research priorities in health services; diversity, equity, and inclusion; and implementation science. Expert Rev Hematol. 2023 Mar;16(sup1):87-106. doi: 10.1080/17474086.2023.2183836. PMID: 36920863.
  • Thornburg CD, Adamski K, Cook K, Vembusubramanian M, Sendhil SR, Hinds D, Chen E, Sammon J, Solari P, Garrison LP Jr, Croteau SE. Health care costs and resource utilization among commercially insured adult patients with hemophilia A managed with FVIII prophylaxis in the United States. J Manag Care Spec Pharm. 2022 Apr;28(4):449-460. doi: 10.18553/jmcp.2021.21368. Epub 2021 Dec 27. PMID: 34958235.
  • Sidonio RF Jr, Pipe SW, Callaghan MU, Valentino LA, Monahan PE, Croteau SE. Discussing investigational AAV gene therapy with hemophilia patients: A guide. Blood Rev. 2021 May;47:100759. doi: 10.1016/j.blre.2020.100759. Epub 2020 Nov 10. PMID: 33183859.

Von Willebrand disease (VWD)

  • James PD, Connell NT, Ameer B, Di Paola J, Eikenboom J, Giraud N, Haberichter S, Jacobs-Pratt V, Konkle B, McLintock C, McRae S, R Montgomery R, O'Donnell JS, Scappe N, Sidonio R, Flood VH, Husainat N, Kalot MA, Mustafa RA. ASH ISTH NHF WFH 2021 guidelines on the diagnosis of von Willebrand disease. Blood Adv. 2021 Jan 12;5(1):280-300. doi: 10.1182/bloodadvances.2020003265. PMID: 33570651; PMCID: PMC7805340.
  • Connell NT, Flood VH, Brignardello-Petersen R, Abdul-Kadir R, Arapshian A, Couper S, Grow JM, Kouides P, Laffan M, Lavin M, Leebeek FWG, O'Brien SH, Ozelo MC, Tosetto A, Weyand AC, James PD, Kalot MA, Husainat N, Mustafa RA. ASH ISTH NHF WFH 2021 guidelines on the management of von Willebrand disease. Blood Adv. 2021 Jan 12;5(1):301-325. doi: 10.1182/bloodadvances.2020003264. PMID: 33570647; PMCID: PMC7805326.
  • Shui M, D’Angelo L, Croteau SE. Low von Willebrand Factor in Pediatric Patients: Retrospective analysis of 293 cases informs Diagnostic and Therapeutic Decision-Making. Pediatr Blood Cancer. 2020; e28497, epub 23 Jun.doi:10.1002/pbc.28497
  • Fifth Åland Island conference on von Willebrand disease, 22–24 September 2016: meeting report. Berntorp, E, Ågren, A, Aledort, L, Blombäck, M, Cnossen, MH, Croteau, SE, von Depka, M, Federici, AB, Goodeve, A, Goudemand, J, Mannucci, PM, Mourik, M, Önundarson, PT, Rodeghiero, F, Szántó, T, Windyga, J. Haemophilia. 2018;24(Suppl. 4):5–19. doi:10.1111/hae.13475
  • El Alayli A, Brignardello Petersen R, Husainat NM, Kalot MA, Aljabiri Y, Turkmani H, Britt A, El-Khechen H, Shahid S, Roller J, Motaghi S, Mansour R, Tosetto A, Abdul-Kadir R, Laffan M, Weyand A, Leebeek FWG, Arapshian A, Kouides P, James P, Connell NT, Flood VH, Mustafa RA. Outcomes of long-term von Willebrand factor prophylaxis use in von Willebrand disease: A systematic literature review. Haemophilia. 2022 May;28(3):373-387. doi: 10.1111/hae.14550. Epub 2022 Mar 26. PMID: 35339117.

Women with bleeding disorders

  • The Spectrum of Bleeding in Women and Girls with Hemophilia B. Staber, J, Croteau SE, Davis J, Grabowski EF, Kouides PA, Sidonio RF. Haemophilia. 2018; 24:180-185. doi: 10.1111/hae.13376