The journey of gene therapy in haemophilia – putting the patient at the centre of the hub and spoke model

Declan Noone; Jan Astermark; Brian O'Mahony; Flora Peyvandi; Kate Khair; Luke Pembroke; Kathryn Jenner

doi:10.2478/jhp-2022-0021

Abstract

Abstract

As gene therapy for haemophilia is now licensed in Europe, and the hub and spoke approach is widely promoted for its delivery and follow-up, it is essential that people with haemophilia (PwH) who are eligible and opt to have this treatment are enabled to obtain the maximum benefit. Ensuring the pathway that makes up the patient gene therapy journey is effective is key to achieving this. EAHAD and the EHC have recommended that gene therapy is delivered through a hub and spoke model of care to ensure that the right expertise is available throughout the various stages of the haemophilia gene therapy journey. Effective communication between hub and spoke centres is essential, and the processes that make up the journey must be understood clearly by both PwH and the multidisciplinary teams delivering their care. The starting point for this is to take each step of the gene therapy journey in turn – through initial engagement, eligibility, detailed patient education, informed decision-making, dosing, and follow up in year 1, year 2 and beyond – and to consider and identify the roles and responsibilities of the patient, the hub centre and the spoke centre. It is important that the expectations of both health care practitioners (HCPs) and patients are aligned with the key challenges and goals associated with each step. Understanding these from the patient point of view will help to ensure that the individual PwH treading this path receive the information, guidance and support they need from hub and spoke HCPs throughout their journey, and that they, as the patient, remain the focus of care. Visualising the journey may help to explain the gene therapy clinical pathway to PwH and could provide a useful tool for HCPs in spoke centres. Visualisation may also serve as a tool for facilitating discussion, not only in terms of initial engagement and education, but throughout the haemophilia gene therapy journey.

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References

1. Miesbach W, Pasi KJ, Pipe SW, et al. Evolution of haemophilia integrated care in the era of gene therapy: Treatment centre's readiness in United States and EU. Haemophilia 2021; 27(4): 511–514. doi: https://doi.org/10.111/hae.14309.
2. Miesbach W, Chowdary P, Coppens M, et al. Delivery of AAV-based gene therapy through haemophilia centres – A need for re-evaluation of infrastructure and comprehensive care: A joint publication of EAHAD and the EHC. Haemophilia 2021; 27(6): 967–973. doi: https://doi.org/10.1111/hae.14420.
3. EUHANET. European guidelines for the certification of haemophilia centres. 2013. Available from http://www.euhanet.org/docs/Euhanet-European_guidelines_for_the_certification_of_Haemophilia_Centres_2013.pdf (accessed 30 August 2022).
4. Miesbach W, Baghaei F, Boban A, et al. Gene therapy of hemophilia: Hub centres should be haemophilia centres: A joint publication of EAHAD and the EHC. Haemophilia 2022; 28: e86–88. doi: https://doi.org/10.1111/hae.14546.
5. Miesbach W, Barcenilla SG, Golan G, Lobet S. Implications of haemophilia gene therapy for changing role of the multidisciplinary team. Haemophilia 2022; 28(1): e12–e14. doi: https://doi.org/10.1111/hae.14440.
6. Peyvandi F, Lillicrap D, Mahlangu J, et al. Hemophilia gene therapy knowledge and perceptions: Results of an international survey. Res Pract Thromb Haemost 2020; 4(4): 644–651. doi: https://doi.org/10.1002/rth2.12326.
7. Fletcher S, Jenner K, Holland M, Khair K. Expectation and loss when gene therapy for haemophilia is not an option: an Exigency sub-study. 2022 [Manuscript submitted for publication]
8. Wang M, Negrier C, Driessler F, Goodman C, Skinner ME. The hemophilia gene therapy patient journey: questions and answers for share decision-making. Patient Prefer Adherence 2022; 16: 1439–1447. doi: https://doi.org/10.2147/PPA.S355627.
9. Fletcher S, Jenner K, Pembroke L, Holland M, Khair K. The experiences of people with haemophilia and their families of gene therapy in a clinical trial setting: regaining control, the Exigency study. Orphanet J Rare Dis 2022; 17: 155. doi: https://doi.org/10.1186/s13023-022-02256-2.
10. Woollard L, Gorman R, Rosenfelt DJ. Improving patient informed consent for haemophilia gene therapy: the case for change. Ther Adv Rare Dis 2021; 2: 1–16. doi: https://doi.org/10.1177/26330040211047244.
11. Miesbach W, O'Mahony B, Key NS, Makris M How to discuss gene therapy for haemophilia? A patient and physician perspective. Haemophilia 2019; 25(4): 545–557. doi: https://doi.org/10.1111/hae.13769.
12. Kaczmarek R, Pierce GF, Noone D, et al. Eliminating Panglossian thinking in development of AAV therapeutics. Mol Ther 2021; 29(12): 3325–3327. doi: https://doi.org/10.1016/j.ymthe.2021.10.025.
13. Nossair F, Thornburg CD. The role of patient and healthcare professionals in the era of new haemophilia treatments in developed and developing countries. Ther Adv Hematol 2018; 9(8): 239–249. doi: https://doi.org/10.1177/2040620718784830.
14. Konkle BA, Coffin D, Pierce GF, et al. World Federation of Hemophilia Gene Therapy Registry. Haemophilia 2020; 26(4): 563–564. doi: https://doi.org/10.1111/hae.14015.
15. Hart DP, Branchford BR, Hendry S, et al. Optimizing language for effective communication of gene therapy concepts with hemophilia patients: a qualitative study. Orphanet J Rare Dis 2021; 16: 189. doi: https://doi.org/10.1186/s13023-020-01555-w.
16. Sidonio RF, Pipe SW, Callaghan MU, Valentino LA, Monahan PE, Croteau SE. Discussing investigational AAV gene therapy with hemophilia patients: A guide. Blood Rev 2021; 47: 100759. doi: https://doi.org/10.1016/j.blre.2020.100759.
17. Valentino LA, Blanchette V, Negrier C, et al. Personalising haemophilia management with shared decision making. J Haem Pract 2021; 8(1): 69–79. doi: https://doi.org/10.17225/jhp00178.
18. Fletcher S, Jenner K, Holland M, Chaplin S, Khair K. An exploration of why men with severe haemophilia might not want gene therapy: The exigency study. Haemophilia 2021; 27(5): 760–768. doi: https://doi.org/10.1111/hae.14378.
19. AHRQ. The SHARE approach: a model for shared decision making. Last reviewed September 2020. Available from https://www.ahrq.gov/health-literacy/professional-training/shared-decision/tools/factsheet.html (accessed 31 August 2022).
20. Pipe SW, Reddy KJ, Chowdary P. Gene therapy: Practical aspects of implementation. Haemophilia 2022; 28 (Suppl 4): 44–52. doi: https://doi.org/10.1111/hae.14545.
21. Arruda VR, Samelson-Jones BJ. Obstacles and future of gene therapy for hemophilia. Expert Opin Orphan Drugs 2015; 3(9): 997–1010. doi: https://doi.org/10.1517/21678707.2015.1069169.
22. Leebeek FWG, Miesbach W. Gene therapy for hemophilia: a review on clinical benefit, limitations, and remaining issues. Blood 2021; 138(11): 923–931. doi: https://doi.org/10.1182/blood.
23. Miesbach W, Klamroth R. The patient experience of gene therapy for hemophilia: qualitative interviews with trial patients. Patient Prefer Adherence 2020; 14: 767–770. doi: https://doi.org/10.2147/PPA.S239810.
24. Batty P, Lillicrap D. Hemophilia gene therapy: Approaching the first licensed product. Hemasphere 2021; 5(3): e540. doi: https://doi.org/10.1097/HS9.0000000000000540.
25. Bolz-Johnson M, Meek J, Hoogerbrugge N. “Patient Journeys”: improving care by patient involvement. Eur J Hum Genet 2020; 28: 141–143. doi: https://doi.org/10.1038/s41431-019-0555-6.

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Authors

Declan Noone

noone.dec@gmail.com

Irish Haemophilia Society, Dublin, Ireland
Jan Astermark

Lund University, Lund, Sweden ; Skåne University Hospital, Malmö, Sweden
Brian O'Mahony

Irish Haemophilia Society, Dublin, Ireland
Flora Peyvandi

University of Milan, Italy ; IRCCS Maggiore Hospital, Milan, Italy
Kate Khair

Haemnet Ltd, London, UK
Luke Pembroke

Haemnet Ltd, London, UK
Kathryn Jenner

Haemnet Ltd, London, UK