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

Declan Noone
Declan Noone
, 
Jan Astermark
Jan Astermark
, 
Brian O'Mahony
Brian O'Mahony
, 
Flora Peyvandi
Flora Peyvandi
, 
Kate Khair
Kate Khair
, 
Luke Pembroke
Luke Pembroke
 y 
Kathryn Jenner
Kathryn Jenner
   | 03 ene 2023
The Journal of Haemophilia Practice's Cover Image
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Article Category: Clinical Practice
Publicado en línea: 03 ene 2023
Páginas: 156 - 166
DOI: https://doi.org/10.2478/jhp-2022-0021
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© 2022 Declan Noone et al., published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

The patient journey in haemophilia gene therapy is complex and multifaceted, presenting challenges to the hub and spoke model of care. Understanding these from the patient viewpoint will help ensure people with haemophilia receive the information, guidance and support they need throughout their gene therapy journey.
The patient journey in haemophilia gene therapy is complex and multifaceted, presenting challenges to the hub and spoke model of care. Understanding these from the patient viewpoint will help ensure people with haemophilia receive the information, guidance and support they need throughout their gene therapy journey.

Figure 1

Initial engagementPwH may seek information on gene therapy from a variety of sources, including their treatment centres. Both hub and spoke clinicians must be able to provide enough clear, accessible information to enable a good general understanding of gene therapy.
Initial engagementPwH may seek information on gene therapy from a variety of sources, including their treatment centres. Both hub and spoke clinicians must be able to provide enough clear, accessible information to enable a good general understanding of gene therapy.

Figure 2

EligibilityWhen establishing eligibility for gene therapy, a blood sample will be taken from the patient to check for antibodies to the AAV vector, and liver and cardiac health. This can be a challenging and potentially stressful time for PwH but enables decisions around future treatment.
EligibilityWhen establishing eligibility for gene therapy, a blood sample will be taken from the patient to check for antibodies to the AAV vector, and liver and cardiac health. This can be a challenging and potentially stressful time for PwH but enables decisions around future treatment.

Figure 3

Detailed educationIn depth education is key to ensuring that individual PwH are able to make an informed decision about whether or not to have gene therapy. Hub and spoke centres must both be prepared to answer clinical questions; structured information on discussions should be shared between hub and spoke. This step should be considered alongside that for ‘Informed Decision’ (Figure 5).
Detailed educationIn depth education is key to ensuring that individual PwH are able to make an informed decision about whether or not to have gene therapy. Hub and spoke centres must both be prepared to answer clinical questions; structured information on discussions should be shared between hub and spoke. This step should be considered alongside that for ‘Informed Decision’ (Figure 5).

Figure 4

Core information needed by people with haemophilia before making an informed decision on gene therapy. Where the information provided is text-based, this must be available in the local language.
Core information needed by people with haemophilia before making an informed decision on gene therapy. Where the information provided is text-based, this must be available in the local language.

Figure 5

Informed DecisionThe process of informed decision-making should centre on enabling PwH to weigh up the benefits and risks of gene therapy. This should be supported by both hub and spoke, with information on discussions shared between them. Conversations with peers who have had gene therapy can be helpful as part of the education that supports this informed decision-making. This step should be considered alongside that for ‘Detailed Education’ (Figures 3 and 4).
Informed DecisionThe process of informed decision-making should centre on enabling PwH to weigh up the benefits and risks of gene therapy. This should be supported by both hub and spoke, with information on discussions shared between them. Conversations with peers who have had gene therapy can be helpful as part of the education that supports this informed decision-making. This step should be considered alongside that for ‘Detailed Education’ (Figures 3 and 4).

Figure 6

DosingThe patient must be sure of their choice to have gene therapy. Dosing will take place at the hub, with the ultimate goal being the instigation of factor expression. Communication between the hub and spoke centres on dosing and plans for monitoring and follow-up is essential.
DosingThe patient must be sure of their choice to have gene therapy. Dosing will take place at the hub, with the ultimate goal being the instigation of factor expression. Communication between the hub and spoke centres on dosing and plans for monitoring and follow-up is essential.

Figure 7

Follow-up Year 1Follow-up in the first year post-dosing is intensive and focused on the individual's response to gene therapy (factor expression, liver). Additional medications may be required to support factor expression (steroids/immunosuppressants). Coordination between hub and spoke is essential.
Follow-up Year 1Follow-up in the first year post-dosing is intensive and focused on the individual's response to gene therapy (factor expression, liver). Additional medications may be required to support factor expression (steroids/immunosuppressants). Coordination between hub and spoke is essential.

Figure 8

Follow-up Year 2The intensity of follow-up reduces. Liaison between hub and spoke continues, and the individual will be adapting to post-gene therapy life. A clear and defined treatment plan should be in place for the patient to cover any decrease in factor expression, accidents or surgery.
Follow-up Year 2The intensity of follow-up reduces. Liaison between hub and spoke continues, and the individual will be adapting to post-gene therapy life. A clear and defined treatment plan should be in place for the patient to cover any decrease in factor expression, accidents or surgery.

Figure 9

Follow-up Beyond Year 2Follow-up should usually be regular six-monthly clinic visits. Monitoring of factor expression and liver health will continue, and the hub may request a liver biopsy. Data collected will enable greater understanding and support development of gene therapies going forward. The goal is for the patient to live well post-gene therapy, whatever their individual outcome.
Follow-up Beyond Year 2Follow-up should usually be regular six-monthly clinic visits. Monitoring of factor expression and liver health will continue, and the hub may request a liver biopsy. Data collected will enable greater understanding and support development of gene therapies going forward. The goal is for the patient to live well post-gene therapy, whatever their individual outcome.

Figure 10

Map of the patient haemophilia gene therapy journeyVisualisation of the key stages of the haemophilia gene therapy journey, focused on the needs of the patient. The journey is complex and the map identifies common elements in the considerations, processes and challenges for PwH and the hub and spoke centres involved in delivering gene therapy and follow-up.
Map of the patient haemophilia gene therapy journeyVisualisation of the key stages of the haemophilia gene therapy journey, focused on the needs of the patient. The journey is complex and the map identifies common elements in the considerations, processes and challenges for PwH and the hub and spoke centres involved in delivering gene therapy and follow-up.
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Medicine, Basic Medical Science, other, Clinical Medicine, Pharmacy, Pharmacology
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