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Building a bridge between patient and pharma: the CMT story

By Fatemeh Amini, Vitaccess Ltd

Amplifying the patient voice in drug discovery—insights from collaborative real-world research


To what extent does the scientific relevance of a healthcare research question parallel its relevance from the patient’s perspective? In this article, we use a live example of a real-world study investigating the experiences of individuals living with Charcot-Marie-Tooth disease (CMT) to demonstrate the wide-reaching value of patient involvement in study design and development.

The value of the patient voice

The drive for patient integration into the drug development process reflects a shift from the traditional culture of paternalism in the industry.1 Patients are not only sources of data, they are also sources of invaluable experiential knowledge about their disease and its management that can enrich clinical evidence and facilitate truly translational research.2,3 Bi-directional engagement of patients and pharma creates an environment where research priorities more closely reflect the interests and needs of the study population. This in turn positively influences research design, participant recruitment and subject retention.4 If patients’ own perceptions of benefits and risk, importance of symptoms and impact on daily life are embodied in a study, the likelihood of their involvement and continued engagement is invariably improved.4-6

More than this, patients want to be involved in research. This is especially apparent in rare diseases, where prevalence is low, diversity is high and availability of and access to treatments may be limited.4,6 Patients and pharma share a common interest: better treatments developed more quickly.7 Thus, meaningfully and actively engaging the patient voice when setting priorities, determining goals and conducting research should be a guiding principle in the drug development and evaluation process.8

Charcot-Marie-Tooth disease and the need for real-world evidence

CMT refers to a group of rare and inherited conditions characterised by progressive muscle deterioration in the limbs and impaired sensitivity to touch, vibration, heat and pain.9 The chronic nature of the disease means that its impact on patients’ quality of life—in terms of their lifestyles, daily activities and career and family choices—is inevitably prolonged.10,11

Following the call for further understanding of the implications of living with CMT, a real-world study11 was designed. Real-world evidence (RWE) has a role in expanding the evidence generated in traditional clinical trials,12 supporting the approval, reimbursement and prescription of life-changing treatments by providing an alternative means of demonstrating their value.13 In the design and development process for orphan drugs, the rarity of the disease of interest can render building a well-targeted evidence base particularly challenging. There is therefore value in the versatility of patient registries—meaning collections of data relating to individuals with a particular diagnosis—for generating RWE in rare diseases.13 More granular, longer-term data can be combined across small and discrete patient populations into one integrated evidence source.12,14

Participants in the study—adults diagnosed with CMT residing in one of six target countries—enter information about their disease and its management on a dedicated study app. This is with the aim of developing a detailed view of the impact of CMT and its treatment on patients in the real world.

Amplifying the patient voice in drug discovery—insights from collaborative real-world research. The CMT story Charcot-Marie-Tooth

Co-creation with patients and patient advocacy groups

Patients and patient advocacy groups (PAGs) were involved from the early stages of the study design process. A scientific advisory board was formed, comprising PAG representatives and clinicians with expertise in the field of CMT research; the board was thus positioned to strategically guide the development of the study through wide-ranging knowledge of the disease of interest.

Study app design

In the process of designing and developing any app, functionality and usability are important considerations. In the case of patient-facing apps, depending on the condition of interest, there will likely be considerable variation in terms of patients’ visual or hearing abilities, physical and psychological characteristics and attitudes towards health. Building a successful app in this environment means maximising the accessibility of the app for each potential user, which in turn necessitates knowledge of the requirements of those living with a particular condition.

The language and tone of the study app content, as well as branding, colour schemes and navigation, were all important considerations in the design stage, and were fine-tuned for the study population through consultation with patients and PAGs.

Data collection strategy

To effectively build a picture of the health status of study participants, a number of standardised patient-reported outcome measures and bespoke questionnaires were implemented into the study app. These instruments collect information relating to participants’ quality of life, specific symptoms and functional ability. In order to establish their relevance and the acceptable frequency of their administration, as well as to add or deprioritise domains as needed, pilot testing of the study app was performed with patients.

Maintaining engagement

By making sure that the study is of as much value to participants as possible, the likelihood of their meaningful engagement is maximised. Its purpose is not just as a registry—it is also a patient support tool. Participants should feel aided in the management of their condition through use of the study app, for instance in the ability to track their symptoms or their falls. In turn, improved participant engagement means a larger repository of valuable patient data to bolster research efforts.

Feedback is sought from participants as the study progresses—for instance in online polls or focus groups. This is instrumental in adapting the study to motivate continued participation. Patient-targeted webinars are a beneficial tool to keep users abreast of study developments and findings. Such communication is not only an essential component of collaborative design, it is also a practical means of boosting participant motivation, with the ultimate incentive for participants being the progression of CMT research.

Amplifying the patient voice in drug discovery—insights from collaborative real-world research. The CMT story Charcot-Marie-Tooth

Concluding remarks

Collaboration between patients, PAGs and pharma fosters a sense of openness and communication which is essential in maintaining balance between stakeholders. Using our CMT patient registry as a case study, we have demonstrated the value of involving patients from the earliest stages of study design, and thereafter in shaping the study according to priorities of the target population. Utilising the expertise of patients not only benefits pharma by boosting the quantity and quality of data captured, it also brings patient priorities in line with those guiding potentially life-changing developments in the world of drug discovery.


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[14] Crisafulli S et al. Expert Opin Drug Saf 2019;18(6):497–509.

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