Gene therapy represents one of the most significant advancements in the treatment of bleeding disorders. By offering the potential for durable improvements in clotting factor levels with a single infusion, this innovative approach has opened new possibilities for people living with haemophilia and allied conditions. While gene therapy is still evolving, the progress made to date underscores its transformative potential in reducing the burden of lifelong treatment and improving quality of life.
Since the earliest research efforts, pharmaceutical companies, researchers, and healthcare professionals (HCP) have played a vital role in advancing gene therapy for haemophilia. Their collective commitment to scientific discovery has led to the development of pioneering treatments, regulatory approvals, and real-world data that continue to inform best practices and future innovations. As with any emerging therapy, the field has experienced both breakthroughs and challenges, each of which has provided invaluable insights that shape the path forward.
The EAHAD Gene Therapy Working Group was formed in 2019 to support the responsible integration of gene therapy into clinical practice. Comprising members from different disciplines across Europe, the group includes professionals from the interdisciplinary team of the haemophilia centre and patient representatives from the European Haemophilia Consortium (EHC). Over the years, it has worked to provide critical information to physicians and patients about the practicability and safety of gene therapy.
EAHAD and EHC developed the hub and spoke model for haemophilia gene therapy to ensure specialized expertise is available throughout the patient journey, with expert centers (hubs) prescribing, administering and managing therapy while local treatment centers (spokes) provide monitoring in close communication with the hubs. This model emphasizes shared decision making (SDM) between healthcare providers and patients, recognizing that patients must be fully informed partners in the gene therapy process, with their values, preferences, and individual circumstances being central to treatment decisions.
Our Working Group has released so far five Gene Therapy publications and eight webinars (with more coming this year) and has launched and keeps constantly updated a publicly accessible and comprehensive database designed to serve physicians and researchers actively involved in gene therapy research and clinical practice connecting them with the latest insights into ongoing and completed clinical trials.
As the field has evolved, so too has our understanding of its benefits, risks, and long-term outcomes. The working group remains at the forefront of these discussions, ensuring that medical professionals and the wider haemophilia community have access to the latest evidence and best practices.
The goals of the EAHAD Gene Therapy Working Group are:
- To work on the implementation of gene therapy into the clinical practice.
- To investigate gene therapy safety and its outcome parameters.
- To collect data on the different gene therapy trials, tests, and adverse events.
- To create a gene therapy information and communication platform for HCPs and members of the multidisciplinary team of the HTC.
- To inform patients and medical professionals about new developments in this field.
- To provide updates on recent developments, e.g., in terms of alanine aminotransferase (ALT) results and safety outcomes.
- To support exchange of knowledge between haemophilia treaters and hepatologists.
Although challenges have emerged after approval of the first gene therapy drugs for haemophilia, the ongoing work of the EAHAD Gene Therapy Working Group remains essential for advancing innovative treatment approaches for haemophilia patients through their multidisciplinary collaboration, educational resources, and steadfast commitment to responsible integration of gene therapy into clinical practice
The progress made so far would not have been possible without the contributions of all stakeholders—from scientists in the lab to clinicians in the clinic, from pharmaceutical innovators to the individuals with haemophilia who have participated in clinical trials. Their dedication has brought gene therapy from concept to reality, and their continued efforts will drive further advancements in the years to come. As we move forward, EAHAD and our Gene Therapy Working Group remains committed to promoting research, education, and multidisciplinary collaboration to ensure that gene therapy, alongside other treatment options, serves the best interests of the haemophilia community.