Taking a people-first approach in haemophilia

People with haemophilia can increasingly rely on effective therapies: we must continue to push the boundaries of science towards curative therapies, yet we also need to focus on improving the lives of people living with haemophilia by adapting to individual needs and preferences?

People with haemophilia can and should expect more as unmet needs remain

Haemophilia, a rare congenital bleeding disorder affecting blood’s ability to clot, is estimated to affect approximately 1,125,000 people worldwide, with around 400,000 living with severe haemophilia. Depending on disease severity, bleeds can occur spontaneously or be caused by trauma and, if not managed, can result in long-term damage to joints, severely limiting an individual’s range of movement.

The last 50 years have seen waves of innovation, from plasma-derived to recombinant factor products, enhanced half-life factors, to non-factor replacement therapies. As a community, our priorities must be to work towards preventative treatment for all patients in need to avoid the long-term damage caused by bleeds while also turning our attention to different methods of administration which have the potential to reduce the burden of treatment. There also needs to be a greater focus on providing more education and information around optimal management of haemophilia, according to each patient’s needs. One important example is the changing needs of an ageing population, who may also be living with comorbidities such as obesity, diabetes, or other cardiovascular conditions.?

Continue to follow the science towards curative approaches

Innovative treatments are on the horizon, exploring different modalities, including gene therapy, gene editing and cell therapy. However, existing gene therapies have limited reach and may not reach a wide enough population, although they have the potential to address the 23% non-adherence rate seen with current therapies, as well as provide an alternative for the 11% who experience IV issues[i]. In the future, we may see people with severe haemophilia experiencing their factor levels being restored to normal with the advent of gene editing and cell therapy. This may present new challenges for patients, adjusting to a new ‘normal’ and engaging with their healthcare team with different treatment and management objectives in mind. As treatment evolves, informed and shared decision-making will be critical.

We need to ensure the right care for the right patient at the right time

While treatment options rightly have been at the heart of research in haemophilia, in the last 10 years, the focus has expanded to include not just optimal bleed control but also improving quality of life for people living with haemophilia through the adoption of a more holistic, personalised treatment paradigm. This means the right care for the right person at the right time, not a one-size-fits-all treatment pathway, taking into account their individual disease characteristics, activity levels, preferences around frequency and mode of administration, and logistical challenges of treatment (e.g., storing or transporting medication, some of which must be refrigerated, or traveling to treatment centres).

Personalised care means putting people at the centre of discussions and planning around care. This enables the patients to share their needs and preferences beyond treatment so that the care team can design the care and treatment to suit their medical needs, co-morbidities, lifestyle, and understanding of their condition and the challenges they face living with haemophilia.

Personalisation is particularly critical in haemophilia as each person responds differently to treatment, as two people may have different outcomes following treatment with the same therapy and dose, depending on their individual disease characteristics and lifestyle. Moreover, some people with haemophilia develop inhibitors, which can cause replacement therapy to stop working and necessitate alternative treatments.

The experience of people with haemophilia needs to define our approach in the future

We can absolutely be proud of our progress in developing effective therapies – but this alone will never be enough. As we move into a new era of haemophilia management, all stakeholders in this space must come together to dig deeper into the lived experience of people with haemophilia: how challenging is it to comply with the treatment, what interruption to their daily activities does this cause, what are the risks of developing inhibitors, how often and why do they need to engage with healthcare systems about the comorbidities? There needs to be a redefinition of success in haemophilia management to take into account patient-centred outcomes. And this shift in focus has to start right at the drug development stage.

Let’s make tangible changes for the benefit of people with haemophilia

We’re at an inflection point in haemophilia. We’ve achieved so much, and the promise of what we can continue to do is huge. There are three key areas in which we can do more:

1. Industry must continue to innovate to ensure people living with haemophilia (and other rare diseases) have treatment options that suit their needs at all stages of life and as their condition evolves. We know gene therapies are coming, but until gene therapies benefit the many, we need multiple treatment options in our arsenal. At a structural level, our regulatory systems must be equipped to understand the challenges and complexity of drug development within rare diseases and are able to accelerate the review of therapies in areas with high unmet needs so that patients in need of new treatment options are not kept waiting longer than necessary.
2. Almost all treatments today can demonstrate a benefit in reducing annual bleed rates: there is a priority to identify additional treatment endpoints that are not just symptoms-based, but better reflect holistic and long-term outcomes for patients. These additional datasets provide added value and must also be used to guide early research and clinical trial design as we move into a new era of personalised treatment and care. We must also consider factors that patients and caregivers believe to be important or relevant, such as the impact of the disease or its treatment on their daily life, the ability to participate in activities without feeling restricted or anxious, and the overall quality of life they experience. For this, stakeholders must work together to develop and standardise the use of patient-centred and patient-reported outcomes.
3. We must also make use of new technologies and digitisation to increase patient understanding and empowerment, facilitate more informed communication between people living with haemophilia and their healthcare team, and ensure more detailed and personalised management of their condition. As technology evolves, we can supplement informational tools, such as apps, with practical tools and platforms that, for example, could guide people experiencing a bleed.

We have a clear vision for haemophilia

Change starts with us, as a community, with industry and Novo Nordisk. I’m committed to driving this change, including:

• Helping to tackle the industry-wide obstacles that prevent people with haemophilia from getting the care and treatment they need.
• Being truly patient-centric, starting with increasing our clinical trial diversity and working with regulatory bodies to help bring new therapies to patients sooner. We are also increasing our efforts to support women with bleeding disorders, a severely under-recognised population.
• Capitalising on the promise of digitisation, for example, with joint health monitoring, increases the potential for therapy personalisation and rapid intervention.

The Annual Congress of the International Society on Thrombosis and Haemostasis (ISTH) , taking place this week, is an important date in our calendar. I am excited to hear the latest data and be part of these valuable discussions with the diverse haemophilia community.

[i] Novo Nordisk. Haemophilia Prescription Drivers Study (2020); 2. Chowdary P et al. Drugs 2018;78(9):881-90; 3. Collins PW et al. Haemophilia 2018; 24(3):344-7