The power of representation, innovation and trust in rare disease clinical trials

By Carol Pitcher-Towner

Equity in clinical research isn’t a trend or a tick-box exercise, it’s a moral, societal and scientific imperative. In rare diseases, where patients often face delayed diagnoses, limited treatment options and significant unmet needs, broad representation in research ensures a more complete understanding of the disease and therefore more effective treatments.

As Head of Development Programmes at Alnylam, I oversee the journey of the assets in our pipeline, from early development through to commercialisation. Our goal is to ensure each medicine delivers meaningful outcomes for everyone who has the potential to benefit from it.

That journey begins with clinical trials, and at the heart of clinical research lies a fundamental question: who is represented in the data?

When we consider representation in clinical trials we immediately consider biological sex, ethnic background or socio-economic status. However, this oversimplifies the challenge. True inclusion needs to also consider groups traditionally excluded based on gender, disability, infection status and age. For example, cisgender women may respond to treatment differently from cisgender men. People with disabilities, around 15% of the global population, remain underrepresented. As individuals live longer and medical care advances, what should be the upper age limit for inclusion?

Clinical research leaders have a responsibility to address these complexities. Should we include countries like Japan or China to ensure global relevance? How can we invest in balancing ethnic representation or use novel technologies to improve recruitment? These tools exist and, with patients’ interests at heart, we need to apply them with creativity and intent. Strategic planning can reduce challenges during the regulatory process and result in new medicines being available earlier.

For example, new AI translation tools enhance understanding for non-English speaking patients while improving communication with healthcare providers. When effectively utilised, these advances may lead to greater access to information, increased recruitment and a more positive healthcare experience.

Research is only as valuable as the people it represents. If clinical trials don’t reflect real-world populations, we risk developing treatments that benefit a fraction of all patients. In rare diseases, where diagnosis can take years and data is limited, that risk is even greater.

For patients, it means being genuinely seen and listened to. For prescribers, it builds confidence in how a treatment will work across diverse groups, something I’ve seen at Alnylam lead to earlier adoption and long-term physician advocacy. For regulators, it ensures data reflects the real world.

For life sciences companies, it means building the strongest value proposition and reaching patients earlier.

During COVID-19, we had to adapt quickly, introducing decentralised trials, virtual monitoring and home visits. What began as necessity became proof that flexible, inclusive trial design is not only possible but essential.

The Alnylam team has applied these learnings to re-evaluate long-standing practices, including re-assessing exclusion criteria to ensure study populations reflect real-world diversity.

Trials often demand time, travel and flexibility, resources many people living with rare diseases don’t have. Carers, shift workers, those with mobility challenges, or people in care homes face real barriers.

That’s why we continue to innovate, from assessment schedules to administration methods. These adjustments enhance dignity, improve recruitment and strengthen the science.

Our first approved medicines are for rare hereditary diseases. These patients often participate not just for themselves, but for future generations. That altruism comes with responsibility.

This means being transparent, respectful and committed to post-trial access. Our engagement with patient advocacy groups is fundamental. These organisations help us understand patient needs and support families navigating participation.

When people see themselves reflected in trials, trust grows. That trust leads to greater participation, stronger data and better healthcare.

Inclusive research strengthens the entire healthcare ecosystem. It supports fair access, accelerates innovation and contributes to faster approvals and more confident prescribing.
At Alnylam, we are committed to developing medicines that reflect the diversity of the real world. Achieving equity requires intention, collaboration and a willingness to challenge assumptions.

When equity is integrated into how we design, conduct and deliver clinical trials, we strengthen the science, build trust, improve access and contribute to more inclusive healthcare.

This article has been written and funded by Alnylam UK.