Engaging patient and advocates in rare disease clinical trials

Who better to shape clinical research in rare disease than those living with the conditions. Patient and public involvement in clinical research is crucial for ensuring that clinical research is aligned with the actual needs and experiences of those affected by the diseases, particularly rare diseases. These conditions often lack robust research data due to small patient populations, making patient insights invaluable. Early engagement with patients can influence so much from the study design to recruitment strategies and ensure that the outcomes measured are relevant to those living with the disease.

As a first step collaboration between all parties involved in the study (the pharmaceutical company, Clinical Research Organisation (CRO), and patient advocacy group is essential from the outset of clinical trial development, especially for rare diseases where patient needs are often underrepresented. Rare disease patients experience unique challenges, and without their input, studies can overlook critical aspects of their daily realities, such as symptom variability, treatment burden, and practical considerations like travel to site, overnight stays, finance etc.

Hearing the patient voice is becoming more and more important as funders realise the importance of having this patient engagement to ensure the treatments coming through will provide an improved  quality of life for the patients.  

When patients lead, progress follows

Patient advocacy groups bring an in-depth understanding of these nuances, helping trial designers develop protocols that are not only scientifically robust but also people-centred. Engaging with these patient groups early enables researchers to align study objectives with what truly matters to patients, leading to more effective recruitment, retention, and ultimately, meaningful trial outcomes that better reflect patient needs.

Rare Disease Research Partners (RDRP) is a UK-based specialist research and trial logistics provider and a subsidiary of the MPS Society patient organisation. The MPS Society supports children and adults with MPS (mucopolysaccharide disorders)and related conditions by raising awareness, fundraising, and providing vital support to its members.

In 2005, the MPS Society noticed a growing gap in rare disease research. While research was increasing, there was little understanding of the particular complex needs of rare disease patients and how this affected their ability to take part in clinical trials. Patients faced practical, financial and emotional barriers to joining or remaining on a study. The usual “big trial” model was not working in populations where you may only have 10 eligible patients, spread geographically across several countries whose everyday lives alone are difficult to navigate without the added demands of taking part in a trial.

These patients needed specialist support based on a sound understanding of their needs and for trials in rare disease, retention is vital. The loss of just one patient, not only impacts the trial but also denies the patient access to potentially life-changing treatment.

RDRP was created to fill this gap, leveraging the MPS Society’s expertise in rare diseases and its belief in understanding each patient’s unique needs. The goal? To make trial participation as smooth and stress-free as possible. This approach improved the experience for patients and families while boosting retention rates.

Today, RDRP continues to collaborate with patient organisations and the industry, championing patient-focused research to shape clinical trials and create resources that truly serve the rare disease community.

CROs and Advocacy: A Formula for Patient-Centric Success

A CRO can significantly influence a sponsor at the protocol development stage by advocating for patient involvement and connecting the sponsor with relevant advocacy groups, especially in rare disease studies. Working with a CRO that has established relationships with rare disease advocacy groups is particularly beneficial, as it allows for immediate access to critical patient insights and trusted networks. This partnership will influence the development of study protocols that are sensitive to patients’ unique needs, improving recruitment and retention. Additionally, this close collaboration with advocacy groups helps ensure study endpoints are meaningful, generating outcomes that align to the priorities of the patient and their families and also strengthening the study’s credibility and relevance.

5 practical ways a CRO can influence patient involvement

1. Ensure patient feedback is incorporated into trial protocol designs utilising NHS Patient and Public Involvement and Engagement (PPIE) groups at the outset. They can feed into patient logistics (ie phone calls and remote assessments vs hospital attendance to reduce travel burdens) and can help identify additional endpoints such as Quality of Life (QoL) that can complement clinical endpoints. They can also help with recruitment promotion for the study.
2. Working with sites that have experience in conducting rare disease trials. These sites have a deep understanding of the patient journey and can offer flexibility over hospital assessments.
3. Developing patient-friendly recruitment materials. Consider using plain language and accessible format and make the material visually appealing. Consider using video as a more engaging media.
4. Encourage the use of lay persons (patient advocacy) to attend steering committee meetings and provide patient newsletters as the trial progresses to keep patients and their families informed of progress
5. Ensure patient feedback after the trial finishes so the patient can access results.

Patient engagement strategies for rare disease

By working closely with patient organisations, we can encourage patients to take part in research through social media as well as working with clinicians at specialist centres. It is also important that where patients and their families take part in research, they are updated as to the outcome of that research. The feedback we receive from our patient populations is that it is very frustrating that they give their time to a piece of research only to never find out how that research is going to benefit the community. This demotivates patients and families to take part in future research.

The future of clinical research in rare disease

Currently, only 5% of rare diseases have treatments that are approved, and the UK is falling behind other nations in terms of access to these therapies.

In the UK alone, more than 3.5 million individuals are affected by one of over 7,000 rare diseases, while the numbers rise to 30 million in Europe and 300 million globally. A significant portion—around 80%—of these conditions are hereditary, with a considerable impact on children; tragically, 30% of affected children do not survive past their fifth birthday.

These chronic and complex conditions impose substantial challenges on patients, families, and caregivers, leading to reduced life expectancy and quality of life. The physical and mental health issues associated with these diseases severely affect everyday activities and overall well-being.

So how do we tackle the unmet needs of the rare disease community?

The answer is research—specifically, research that is guided and informed by those who have firsthand experience with these conditions. Engaging patients and their families in the research process ensures that studies are relevant and focused on the real challenges they face​.

​Yvanne Enever, CEO at PHARMExcel said:

“Addressing the unmet needs within the rare disease community requires a strong emphasis on research—specifically, research that is informed and guided by the experiences of those directly impacted by these diseases. CROs and Pharma must get better at not just hearing the patient voice but acting on it”

Bob Stevens, CEO at RDRP and the MPS Society said:

“Together with invaluable CRO partners like PHARMExcel, we can help Sponsors to understand the benefits of involving patients in research right from the start. We can only do this by getting in the room with Sponsors and encouraging patients to tell their stories. We can also continue to lead by example, by showing the quality of data available when you ask the right questions and have the right people doing the data collection and analysis.”

If you would like to get involved in any of the initiatives mentioned or you have a project you need support on, please contact us.

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