Transforming the rare disease landscape: The essential role of patient advocacy groups and pharma

According to the UK government, one in every 17 individuals will be affected by a rare disease during their lifetime. These conditions, each affecting fewer than one in 2,000 individuals, create significant gaps in the current healthcare landscape. As a result, many rare disease patients face a lack of approved treatments, leading to potentially life-threatening outcomes. (1)

Despite these challenges, patient advocacy groups (PAGs) offer valuable opportunities to overcome barriers to rare disease awareness and research.

PAGs bridge the gap between patients, their caregivers and families, and the pharmaceutical industry, providing resources and support to those living with a disease while engaging in various aspects of clinical research. By fostering relationships with rare disease patients, advocacy groups help create a sense of community among individuals who might otherwise face their condition in isolation. Furthermore, these groups contribute to advocating for research to address knowledge gaps in rare diseases, establishing evidence-based practices, and facilitating recruitment and trial designs to accelerate the discovery and development of patient-friendly therapies. (2)

So, what are the main goals of PAGs in rare disease research?

With patient-centricity and engagement at the forefront of our healthcare system, PAGs are primarily motivated by the goal of improving the patient journey in rare diseases. This complex, multifaceted goal includes elevating disease awareness and recognition, providing educational resources to both healthcare professionals and rare disease families, advocating for funding, informing health policies to drive systemic changes that align with patient needs, and ensuring that the patient voice is central at every stage of the drug development lifecycle. (2,3)

As a by-product of their dedication to patients, PAGs also assist pharmaceutical companies in the clinical and commercial development of novel treatments. This support includes accumulating real-world evidence and providing guidance on navigating regulatory pathways. (4)

Unfortunately, advocacy groups' efforts to improve the lives of patients with rare diseases are often limited by insufficient funding and attention from researchers and industry leaders. (2) To advance our knowledge in this field and increase the availability of high-efficacy medicines for deserving patients, the pharmaceutical industry must shift its focus toward rare disease research. Healthcare and pharmaceutical companies should partner with PAGs to better understand patients’ and caregivers’ lived experiences, overcome barriers to care, and, importantly, build trust within rare disease communities. Through productive collaboration, mutually beneficial partnerships can be established—patients can contribute to much-needed research by participating in clinical trials, enabling researchers to develop patient-centric treatments with a higher likelihood of approval.

Since rare diseases affect small populations, gaining valuable patient insights is critical. At Synthesis, we believe every patient deserves optimal healthcare and treatment options, regardless of how rare their condition may be. That is why our team of specialist medical writers is dedicated to building strong partnerships that foster empathy and trust between patients and the pharmaceutical industry, helping to mitigate barriers to care and improve health outcomes for all. Contact us at info@synthesishealth.co.uk to learn how we can help disseminate knowledge to promote awareness among industry leaders and support your patient engagement and advocacy initiatives.

References

1. The UK Rare Diseases Framework https://www.gov.uk/government/publications/uk-rare-diseases-framework/the-uk-rare-diseases-framework

2. Patterson AM, O’Boyle M, VanNoy GE, Dies KA. Emerging roles and opportunities for rare disease patient advocacy groups. Therapeutic Advances in Rare Disease. 2023;4. doi:10.1177/26330040231164425

3. Sharma R., Ahmed, S., Campagnari, J. et al. Embedding Patient-Centricity by Collaborating with Patients to Transform the Rare Disease Ecosystem. Pharm Med 37, 265–273 (2023). https://doi.org/10.1007/s40290-023-00474-y

4. Gentilini A, Miraldo M. The role of patient organisations in research and development: Evidence from rare diseases. Soc Sci Med. 2023;338:116332. doi:10.1016/j.socscimed.2023.116332