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Published on: September 30, 2021
Overview of Patient-Reported Outcomes in Haemophilia Gene Therapy
1Medical Clinic 2, University Hospital Frankfurt, Frankfurt, Germany.
Summary
Gene therapy for haemophilia significantly improves patient quality of life, according to patient-reported outcomes (PROs). These benefits, including reduced treatment burden, are crucial for assessing the true value of new haemophilia gene therapies.
Area of Science:
- Hematology
- Gene Therapy
- Patient-Reported Outcomes
Background:
- Three adeno-associated virus-based gene therapies for haemophilia approved since 2022 face slow commercial uptake.
- Traditional endpoints (bleeding rate, factor levels) don't fully capture patient-relevant benefits.
- Regulatory agencies (FDA, EMA) increasingly value patient-reported outcomes (PROs) for decision-making.
Purpose of the Study:
- To review patient-reported outcome (PRO) data from haemophilia gene therapy trials.
- To assess the impact of gene therapy on quality of life beyond traditional clinical endpoints.
- To understand the economic value driven by PROs in haemophilia gene therapy.
Main Methods:
- Narrative review of literature (PubMed, Web of Science, 2017-2026) on PRO instruments, clinical trials, cost-effectiveness, and qualitative data.
- Analysis of PRO data from six gene therapy trials using 12 different instruments.
- Focus on five key instruments: Haem-A-QoL, Haemo-QoL-A, EQ-5D-5L, and coreHEM Mental Health Outlook (coreHEM-MHO).
Main Results:
- Gene therapy demonstrated clinically meaningful quality-of-life improvements across studies.
- Disease-specific quality-of-life scores improved by 6-15 points, exceeding thresholds.
- Significant increases in EQ-5D-5L utility indices and profound reductions in treatment burden reported.
- Durable quality-of-life gains confirmed up to 156 weeks in long-term follow-up.
Conclusions:
- PRO evidence confirms substantial quality-of-life benefits of haemophilia gene therapy, surpassing traditional endpoints.
- PRO-driven improvements are key to the economic value of gene therapy, impacting cost-effectiveness models.
- Future priorities include standardized coreHEM measurement and long-term PRO registries.
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