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.