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CME Evaluation

Oral Communication Session

Inherited Bleeding Disorders and Inhibitors

Session: Gene therapy - Long term follow up

OC 30.3 - Health-related quality-of-life outcomes 4 years after treatment with valoctocogene roxaparvovec

Monday, June 24, 2024
10:00 – 10:15 ICT
Room: Plenary Hall

    Presenting Author(s)

  • Bella Madan, MD FRCP FRCPath

    Consultant Haematologist
    Guy's & St. Thomas' NHS Foundation Trust
    London, England, United Kingdom

    • Co-Author(s)

  • Margareth C. Ozelo, MD, PhD

    Professor
    Hemocentro UNICAMP, Department of Internal Medicine, School of Medical Sciences, University of Campinas
    Campinas, Sao Paulo, Brazil

  • GK

    Gili Kenet

    CONSULTANT PAEDIATRIC HAEMATOLOGIST
    National Hemophilia Center Sheba Medical center, Tel Hashomer & Amalia Biron Research Institute of Thrombosis & Hemostasis, Tel Aviv University, Israel,
    Tel Aviv, Tel Aviv, Israel

  • Sheng-Chieh Chou, MD.

    Hematologist
    Department of Internal Medicine, National Taiwan University Hospital
    Taipei, Taipei, Taiwan (Republic of China)

  • Steven W. Pipe, MD

    Professor of Pediatrics and Pathology
    University of Michigan
    Ann Arbor, Michigan, United States

  • Andrew D. Leavitt, MD

    Professor and Medical Director
    Adult Hemophilia Treatment Center, University of California San Francisco
    San Francisco, California, United States

  • FC

    Francisco P. Careta

    Patient Author
    Universidade Federal do Espírito Santo
    Alegre, Espirito Santo, Brazil

  • PL

    Patrick J. Lynch

    CEO
    Believe Ltd
    Hawthorne, California, United States

  • SF

    Simon Fletcher

    Research Nurse
    Oxford University Hospitals NHS Trust
    Oxford, England, United Kingdom

  • DG

    Dor Goshen

    Board Member
    Israeli Hemophilia Association
    Ramat Gan, Tel Aviv, Israel

  • AR

    Andres Ruiz

    Patient Author
    National Bleeding Disorders Foundation
    Oakland Park, Florida, United States

  • ED

    Ebony Dashiell-Aje

    Executive Director and Head, Patient Centered Outcomes Science
    BioMarin Pharmaceutical Inc.
    Novato, California, United States

  • CR

    Christine Rivat

    Late-Stage Clinical Development
    BioMarin Pharmaceutical Inc.
    Novato, California, United States

  • Johnny Mahlangu, MBBCh, MMed

    Head of Department and Principal Haematologist
    Department of Molecular Medicine and Haematology, University of the Witwatersrand, National Health Laboratory Service, and Charlotte Maxeke Johannesburg Academic Hospital
    Johannesburg, Gauteng, South Africa

Background: Valoctocogene roxaparvovec, a gene therapy for severe hemophilia A (HA), helps prevent bleeding by providing the body with genetic instructions for making factor VIII (FVIII) protein. We report findings from the GENEr8-1 study 4 years after participants received valoctocogene roxaparvovec.

Aims: To compare health-related quality-of-life (HRQOL) outcomes before and after treatment with valoctocogene roxaparvovec.

Methods: In GENEr8-1, 134 adult men with severe HA received one infusion of valoctocogene roxaparvovec (6E13 copies of FVIII instructions/kg). To assess their HRQOL, participants completed questionnaires before receiving valoctocogene roxaparvovec and regularly afterwards. The Haemo-QOL-A, a questionnaire designed for HA and B, is being validated for gene therapy for HA. It produces a Total Score reflecting overall HRQOL and domain scores measuring impacts on specific aspects of life, such as Physical Functioning (eg, ability to carry out everyday tasks), Role Functioning (eg, relationships and ability to function in social roles), and Consequences of Bleeding (fear of having a bleed/what happens after you have a bleed). Here, Haemo-QOL-A results are presented for the 132 HIV-negative participants in total and by the participants’ FVIII activity level at year 4. Other questionnaires will be included in the final presentation.

Results: Four years after treatment with valoctocogene roxaparvovec, the average Haemo-QOL-A Total Score increased by 6.2 points, an average improvement considered meaningful to people with severe HA (Table 1). Improvements were also seen for Physical Functioning (4.8 points), Role Functioning (5.9 points), and Consequences of Bleeding (9.2 points). At year 4, average Haemo-QOL-A Total Score increased by 6.3, 5.8, and 6.9 points for year 4 FVIII activity in ranges ≥40%, ≥5% to < 40%, and < 5%, respectively (Table 2).

Conclusion(s): Valoctocogene roxaparvovec provides HRQOL improvements considered meaningful for people with severe HA over 4 years, even for participants with FVIII levels below 5% at year 4.