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. 2025 Jan;31(1):26-38.
doi: 10.1111/hae.15125. Epub 2024 Nov 20.

UKHCDO gene therapy taskforce: Guidance for implementation of haemophilia gene therapy into routine clinical practice for adults

Pratima Chowdary  1   2 , Beatriz Duran  3 , Paul Batty  1   2 , Gillian Lowe  4 , April Jones  5 , Debra Pollard  1 , Sara Boyce  6 , Jayashree Motwani  7 , Bahareh Amirloo  3 , Kathryn Musgrave  5 , David Hopper  5 , Stephen Classey  8 , Sarah Whitaker  9 , Nicola Dunn  1 , Annette Bowyer  10 , Susan Shapiro  11   12
Affiliations

UKHCDO gene therapy taskforce: Guidance for implementation of haemophilia gene therapy into routine clinical practice for adults

Pratima Chowdary et al. Haemophilia. 2025 Jan.

Abstract

Introduction: 2022 was a landmark year with two adeno-associated viral vectors (AAVs) receiving conditional marketing authorization from EMA for the treatment of persons with severe haemophilia A and severe to moderately severe haemophilia B and a third in 2024. Gene therapy is a transformative, irreversible treatment with long-lasting effects, necessitating development of new clinical pathways to ensure optimal outcomes.

Aim: To develop a consensus framework and service specification for delivery of AAV gene therapy for haemophilia in adults within the UK using the hub-and-spoke model proposed by the European Association of Haemophilia and Allied Disorders and the European Haemophilia Consortium.

Methods: The UK Haemophilia Centre Doctors Organisation (UKHCDO) set up a working party to develop expert consensus guidance, working with NHS England to ensure alignment with NHS England commissioning and the national service specification.

Results: These guidelines detail the patient pathway, counselling and governance requirements for the hub-and-spoke model. The national service specification requires the hub site to manage governance for AAV-based gene therapy. Proposed regional and national multidisciplinary teams will harmonize clinical practices incorporating expertise from various specialities and professional groups. Key requirements identified include standardized documentation and multidisciplinary collaboration. Nationally agreed patient information and counselling checklists will streamline the informed consent process and facilitate data collection for long-term safety and efficacy monitoring.

Conclusion: These guidelines provide a structured framework for the delivery of liver-directed gene therapy. Whilst specific to the United Kingdom they provide a framework for the implementation of gene therapy in other countries for haemophilia and other monogenic disorders.

Keywords: UKHCDO; clinical practice guidelines; gene therapy; haemophilia A; haemophilia B; multidisciplinary; patient pathway.

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Conflict of interest statement

Pratima Chowdary has received research funding from Bayer, CSL Behring, Freeline, Novo Nordisk, Pfizer, SOBI; honoraria from BioMarin, CSL Behring, Chugai, Novo Nordisk, Pfizer, Roche, Sanofi, Sobi and Takeda; contributed to advisory boards for Bayer, Boehringer Ingelheim, Apcintex, CSL Behring, Chugai, Freeline, Novo Nordisk, Pfizer, Roche, Sanofi, Spark, Sobi, Takeda; received travel support from CSL Behring, Novo Nordisk, Pfizer, Sobi and Takeda; Paul Batty has received research support from Biomarin, honoraria from Biomarin, Octapharma, Pfizer, CSL Behring and Novo Nordisk; and travel support for conference attendance from CSL Behring and Octapharma. Jayashree Motwani has received an educational grant and speaker fees from Roche, Sobi, Bayer and CSL Behring. Sara Boyce has received speaker fees from CSL Behring, AstraZeneca and Sanofi; research support from Sangamo Therapeutics LTD; and sponsorship from CSL Behring for advisory meeting. Annette Bowyer has received speaker and advisory honoraria from Pfizer. April Jones has received speaker fees from Novo Nordisk, LFB and Sobi, has been on the advisory board for Pfizer, and has received sponsorship to attend conferences from Roche/Chugai. Debra Pollard has acted as a paid consultant to BioMarin relating to the production of education materials and has received honoraria from Roche‐Chugai and Sobi for speaking at educational meetings. Gillian Lowe has received research fellow funding from Biomarin and honoraria for participation in medical education events from CSL Behring, Sobi, Alexion, Abbvie, Leo, Novo Nordisk, Takeda, Amgen, Novartis and Sanofi. Susan Shapiro has received conference support from CSL Behring, Roche and Sobi; speaker fees from Chugai, Sobi and Takeda; consultancy fees from CSL Behring, E‐therapeutics and Sobi; and research grant support from Bristol Myers Squibb. Susan Shapiro receives funding support from the Medical Research Council (MR/T024054/1). Stephen Classey received a speaker fee from Roche, Sobi and a grant from Pfizer. Nicola Dunn has acted as a consultant to Pfizer. Bahareh Amirloo, Beatriz Duran, David Hopper and Sarah Whitaker have no competing interests.

Figures

FIGURE 1
FIGURE 1
Multidisciplinary team at the hub.
FIGURE 2
FIGURE 2
ATMP governance and pharmacy oversight.
FIGURE 3
FIGURE 3
Patient pathway across the hub and spoke.
See this image and copyright information in PMC

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