Rare opportunity

In the complex landscape of pharmaceutical development, the integration of patient perspectives, particularly in the area of rare diseases, is not merely beneficial – it is essential.

UCB has seen that generalised myasthenia gravis (gMG) – a rare, chronic, heterogeneous, unpredictable autoimmune disease – can serve as a successful case study for this approach.

The global prevalence of gMG is 100–350 cases per every one million people and the disease is characterised by dysfunction and damage at the neuromuscular junction.

People living with gMG can experience a variety of symptoms, including severe muscular weakness that can result in double vision, drooping eyelids, difficulty with swallowing, chewing and talking, as well as life-threatening weakness of the muscles of respiration.

The challenges of recruiting clinical trial participants from small, rare disease populations, like gMG – exacerbated by the logistical difficulties these patients often face in travelling – significantly hinder the development of vital medications.

An effective strategy to address these obstacles involves the adoption of innovative study designs. By collaborating closely with regulators, we can devise protocols that require fewer participants yet still yield robust data for assessing new therapeutic options.

The pharmaceutical industry is progressively adopting new evidence-generation methods, emphasising the augmentation of clinical trial data with external or historical controls, as well as pre- and post-approval real-world data sets.

Although regulators are aligning with this approach, people living with rare diseases still struggle to access innovative treatments, highlighting the need for swifter action and better harmonisation between regulatory bodies and payers regarding value assessments.

Continuous dialogue is crucial to overcome these barriers and accelerate the availability of new treatments.

The clinical management of gMG has advanced significantly in recent years, yet its impact is often underestimated, particularly regarding the emotional burden, fatigue and disruption to daily life on patients.

This underscores the necessity of a comprehensive, patient-centred care approach that addresses the physical, emotional and social facets of gMG.

Moreover, identifying endpoints that resonate with the real-world experiences of patients and healthcare providers, and prioritising patient-reported outcomes (PROs), are crucial in developing treatments for rare conditions.

For instance, the Myasthenia Gravis Symptoms PRO (MGSPRO) tool, developed by our UCB Patient Centered Outcome Research team, plays a vital role in our clinical trials for developmental medicines.

Collaboration with a patient association not only facilitated recruitment but also enriched the development of this PRO tool, ensuring it effectively assesses gMG symptoms.

Now integrated into our phase 3 studies alongside other existing PROs, the MGSPRO offers a quantitative evaluation of symptoms that can often be overlooked, such as fatigue, and aligns more closely with the lived experiences of gMG patients.

Such initiatives deliver substantial value to the rare disease community, yet they hinge on sustained partnerships.

Long-term collaborations with patients, advocacy groups and physicians enable us to better understand and meet patient needs, leading to the development of more precise therapies, enhanced diagnostic rates and improved patient education about their conditions.

These partnerships are instrumental in designing clinical studies and generating relevant evidence, ultimately making a profound impact on the lives of patients and their families.

We are in a transformative era for people living with a rare disease. Science, technology and understanding have converged to allow huge strides forward in recent years for many rare and orphan conditions.

In gMG, UCB recognised a crucial need to provide more focused and well-tolerated treatment alternatives that are tailored to address the unique underlying mechanisms of the disease in individual patients.

We believe that delivering disease-modifying therapies will significantly expand treatment options for those living with rare diseases. One day, we hope that we can develop solutions that could alleviate the underlying causes of certain rare diseases.

To realise this vision, the inclusion of the patient voice will be critical in all stages of drug development, starting from clinical trial design, throughout the regulatory processes, during the discussions about national access and beyond.

Listening to and elevating the patient voice is also essential to tackling another of the major challenges in rare disease – the scarcity of knowledge about the specific disease, its evolution, its impact on patients’ lives and their ability to participate in and contribute to society in the same way a person considered ‘healthy’ and without illness would.

The pharmaceutical industry stands to benefit from the immense value in consistently listening to the patient voice.

We should work closely with patient organisations and Centres of Excellence to learn more about the patient experience and explore the natural history of the disease. We must truly respect patients as the experts in living with their condition, as only they can tell us what they really need.

These insights can then be used to inform understanding about symptoms and disease management as well as wider issues such as clinical trial design.

These patient stories are invaluable – alongside more traditional scientific literature, which can be very limited in rare disease, and clinical trials, that very often have never been conducted before – to getting our treatments into the position where they can transform lives.

This patient-centric approach also enables personalised care, fosters empathy among healthcare professionals and empowers patients to actively participate in their own healthcare decisions.

The scientific community, regulators, payers and industry need to continue to listen to and collaborate with patients, to embrace the patients’ view on what it is like living with a rare disease and what access to the right care would mean for them.

Pharma companies must also communicate to healthcare providers and payers the value new medicines provide over and above the treatment costs alone.

This includes wider societal benefits and less tangible, but equally important, quality of life and mental health benefits for patients, family members and caregivers.

By bringing our expertise and experience, including in areas such as regulatory and access, to the forefront and by doing whatever we can to help prioritise the voices of patients, we can help improve access to treatments and care that will genuinely make a difference to people living with rare diseases.

Historically, drug development has been a top-down process where clinical efficacy and regulatory approval priorities often overshadow the nuanced needs and daily realities of patients.

However, by prioritising the voices and experiences of those living with rare diseases we have the opportunity to enhance efficacy, improve patient adherence and ultimately expedite the journey from laboratory to patient.

This patient-centric approach is not only a moral imperative but can create better outcomes for both pharma companies and the patients who stand to benefit from new therapies.

Manuela Maronati is Global Asset Head, Neuroimmunology & Rare Diseases at UCB. Go to ucb.com