5 reasons to focus on patient engagement in R&D: the example of rare diseases

Published on 18 September 2023 Read 25 min

There are over 7000 identified rare diseases, and they affect 3 million French people and 25 million Europeans. However, each disease affects a very limited number of patients: R&D can therefore be very long and costly in order to develop diagnostic means or a specific treatment. Numerous rare diseases are also considered as “orphan diseases”, meaning that there isn’t any effective treatment available.

For this reason, focusing on patient engagement in research is fundamental. Alcimed takes a look at some of the main reasons for which this is a major issue in this domain.

Reason 1: the patients are experts in their disease

More than in most fields, rare disease patients occupy a position as “patient expert”, having a unique knowledge of their disease.

Directly exchanging with patients thus allows one to collect valuable information on their symptoms and clinical manifestations, the disease progression, and how it impacts their daily lives. This knowledge can accelerate the research process by providing important data and by helping researchers better understand these pathologies.

Establishing this relationship of trust with patients is even more key given that they are a small population, making the knowledge they contribute invaluable.

Reason 2: for developing research according to the patient needs

A direct line of communication between pharmaceutical industry researchers (and/or research institutions) and patients in the early stages of R&D allows for a better understanding of patient needs and expectations: all of the conditions are thus united to be able to develop a targeted treatment (medication), respond to real needs, and promote a better quality of life for patients with orphan diseases.

In the long term, this will also reinforce the participation of patients in clinical trials, and their adherence to treatment.

Reason 3: to carry out customized clinical trials

Implication of the patient in the design of clinical trials is interesting, as it allows researchers to take into account patient needs and preferences in this setting.

Indeed, the patient can contribute to the definition of the drug evaluation criteria, to the selection of relevant result outcomes, or even to the identification of potential barriers to the participation of other patients. This increases the odds of recruiting and retaining participants to clinical trials, a particularly complex issue in the field of rare diseases.

Find out how our team can help you with your projects related to patient centricity >

Reason 4: patients can act as spokespersons for orphan diseases

Because rare diseases affect the lives of people belonging to a minority, the interests of orphan disease patients are often neglected. It is fundamental to draw attention to these diseases in order to increase awareness of the public and health care providers (caregivers, etc.), and as such to mobilize resources for drug research and development.

Patients can contribute to this education in an impactful manner, for example through events, educational campaigns, or social media. They can share their experience and as such play a key role in the education of the public, reducing the stigmas associated with rare diseases, and promoting research and access to care.

Reason 5: to improve support services for rare disease patients

Patients of orphan diseases need support and guidance throughout the length of their health journey. Engaging the patient in research allows for a better understanding of their situation, and helps to put in place adapted support services.

Patient associations play a key role in the communication around rare diseases, and in the mutual support of those affected by them. By collaborating with others, patients can share their experience and reduce social and emotional isolation often associated with orphan diseases. Additionally, engagement of these associations in research makes them more credible in the eyes of the public and health authorities, therefore raising awareness of rare diseases more effectively.

Altogether, including patients in R&D processes is a major issue in the rare disease field. Involving patients in the early stages of development can accelerate the process thanks to their knowledge of the disease and to an easier inclusion in clinical trials.
This privileged and collaborative relationship also allows pharmaceutical companies to improve the quality of life of patients from early stages of development and to participate in their daily support, notably through patients associations and actions that raise awareness. Alcimed can support you in your projects linked to R&D optimization, the patient pathway, and rare diseases. Don’t hesitate to contact our team!

About the author, 

Richard, Senior project manager in Alcimed’s Life Sciences team in France

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