Core outcome set for gene therapy in haemophilia: Results of the core<scp>HEM</scp> multistakeholder project

Iorio, Alfonso; Skinner, Mark W; Clearfield, Elizabeth; Messner, Donna A.; Gf, Pierce; Witkop, Michelle; Tunis, Sean

doi:10.1111/hae.13504

Cited by 82 publications

(104 citation statements)

References 14 publications

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“…It is now up to the community to ensure these core data outcomes are incorporated into the clinical framework of gene therapy trials to ensure appropriate and relevant appraisals demonstrating the value of gene therapy are possible. Work is underway in selecting the most suitable measurement tools for the identified outcomes, where needed …”

Section: Resultsmentioning

confidence: 99%

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The 1st WFH Gene Therapy Round Table: Understanding the landscape and challenges of gene therapy for haemophilia around the world

Pierce

Coffin

2019

Haemophilia

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In this first in a series of round table meetings, the 1st World Federation of Hemophilia Gene Therapy Round Table was convened to initiate a global dialogue on the expected challenges and opportunities that a disruptive therapy, such as gene therapy, will bring to the haemophilia community. Perspectives from key stakeholder groups, including healthcare professionals, regulators, payors, people with hemophilia and pharmaceutical industry representatives, were sought in the identification of the key issues we expect to face. Didactic presentations and open discussion covered the clinical development of gene therapy in haemophilia; regulatory perspectives of gene therapy; making informed decisions; accessibility, affordability and pricing of gene therapy; and ethical issues of gene therapy clinical trials. These were followed by small group work. This manuscript outlines the key issues identified and the path forward.

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Section: Resultsmentioning

confidence: 99%

“…Treatment goals may also change: a reduction in bleeds may no longer be a valid goal with gene therapy, while quality of life may become more important . Patients will require education and support on the expected clinical outcomes of gene therapy, and their changing reality within society and the haemophilia community.…”

Section: Resultsmentioning

confidence: 99%

The 1st WFH Gene Therapy Round Table: Understanding the landscape and challenges of gene therapy for haemophilia around the world

Pierce

Coffin

2019

Haemophilia

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“…From a patient perspective, with so many trials recruiting and ongoing, it is worthwhile to review the key outcomes and the types of questions PWH might have (Table ). As discussed in the previous section, key outcomes for PWH include factor level, duration of factor expression, reduction in chronic pain, healthcare resource utilisation, impact on mental health and bleed frequency . Therefore, it is likely that individuals will choose to participate in trials based on the factors which are most important to them.…”

Section: How To Discuss Gene Therapy: Physician and Patient Perspectimentioning

confidence: 99%

How to discuss gene therapy for haemophilia? A patient and physician perspective

et al. 2019

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Gene therapy has the potential to revolutionise treatment for patients with haemophilia and is close to entering clinical practice. While factor concentrates have improved outcomes, individuals still face a lifetime of injections, pain, progressive joint damage, the potential for inhibitor development and impaired quality of life. Recently published studies in adeno‐associated viral (AAV) vector‐mediated gene therapy have demonstrated improvement in endogenous factor levels over sustained periods, significant reduction in annualised bleed rates, lower exogenous factor usage and thus far a positive safety profile. In making the shared decision to proceed with gene therapy for haemophilia, physicians should make it clear that research is ongoing and that there are remaining evidence gaps, such as long‐term safety profiles and duration of treatment effect. The eligibility criteria for gene therapy trials mean that key patient groups may be excluded, eg children/adolescents, those with liver or kidney dysfunction and those with a prior history of factor inhibitors or pre‐existing neutralising AAV antibodies. Gene therapy offers a life‐changing opportunity for patients to reduce their bleeding risk while also reducing or abrogating the need for exogenous factor administration. Given the expanding evidence base, both physicians and patients will need sources of clear and reliable information to be able to discuss and judge the risks and benefits of treatment.

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“…Participants also expressed con- common concern was however, raised regarding the time and effort required to complete measures. 26 Perhaps, for this reason, participants indicated a preference for shorter measures.…”

Section: Discussionmentioning

confidence: 99%

Physiotherapy outcome measures of haemophilia acute bleed episodes: What matters to patients?

et al. 2019

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Introduction The research was conducted at a UK teaching hospital and Haemophilia Comprehensive Care Centre (CCC) as part of a research programme investigating physiotherapy for acute bleed management. Aim The aim of the study was to understand the perspectives of people with haemophilia (PWH) on validated outcome measures (OM) and whether these measures capture changes relevant to them whilst recovering from an acute bleed episode. Methods Any person with haemophilia registered to the CCC who reported an acute bleed within the past 2 years was invited to participate. Semi‐structured interviews or workshops (activity‐focused discussions with small groups) were conducted with PWH who had received physiotherapy treatment in the previous two years. These were used to explore opinions of PWH of commonly used outcome measures. Results Eight male PWH participated, mean age 61 years, ranging between 39 and 71. Seven participants had severe haemophilia A and 1 had von Willebrands. Participants described numerical rating scales of pain as abstract and expressed a preference for verbal or visual descriptors. In relation to function, the men generally found haemophilia‐specific OM to be more relevant. The EuroQol 5‐Dimension 5‐Level (EQ5D‐5L) and Haemophilia and Exercise Project Test Questionnaire (HEP‐Test‐Q) were considered as good measures due to brevity and ability to capture relevant changes promptly. Conclusion Participants in this study reported a preference for short OMs that allow them to reference their ability during the acute bleed episode in comparison with their normal function.

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Core outcome set for gene therapy in haemophilia: Results of the coreHEM multistakeholder project

Cited by 82 publications

References 14 publications

The 1st WFH Gene Therapy Round Table: Understanding the landscape and challenges of gene therapy for haemophilia around the world

The 1st WFH Gene Therapy Round Table: Understanding the landscape and challenges of gene therapy for haemophilia around the world

How to discuss gene therapy for haemophilia? A patient and physician perspective

Physiotherapy outcome measures of haemophilia acute bleed episodes: What matters to patients?

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