Conducting user research to enhance an ultra-rare disease patient support programme

We partnered with a global biopharma company focusing on commercialising treatments for patients with rare and orphan diseases. For this project, we worked with their Director of Digital Strategy and Chief Patient Educator in the US for one of the organisation's key therapy areas.

Our client currently owns and commercialises an injectable product to treat an ultra-rare genetic disease, with an estimated prevalence of 1/1,000,000. The product is currently the only on the market of its class to effectively treat the disease — which is otherwise life-limiting — and allow patients to better manage their day-to-day lives and improve their quality of life.

The product has indications globally, including in the US, where the organisation runs a patient support service. Currently, the patient support service is run on a traditional case-manager model; each patient that opts into the service is assigned a contact from the clinical educator team to support the patient through either face-to-face meetings or SMS messaging. Support is available across a range of areas — financial, diet and lifestyle, and medical support with treatment adherence.

Our client identified that engagement between patients and clinical educators is non-optimal, and that this could be leading to poorer patient outcomes via lower treatment adherence rates. Our client hypothesised that a digital, on-demand companion for the support service may improve patient engagement, but they were unsure about which features or elements this solution should have to best support patients.

We created specific goals for this research phase that aligned with the overarching business objectives for the design of a digital solution — increasing patient support service participation, utilising modern communication mediums to provide an interactive tool that patients use as an integral part of managing their disease, and increasing treatment adherence through increased interaction with clinical educators.

The specific objectives for our research project were 3-fold:

We utilised our in-house Clinical UX Research capabilities to initiate a discovery-based user research project. This involved remotely conducting in-depth, 1:1 qualitative interviews with 17 US-based patients to explore their needs and pain points, and identify opportunity areas for a digital solution to support their care. The participant sample was split into two groups — caregivers of child patients, and adult patients (aged 18+).

Our exploratory research involved asking questions around the patient's lived experience, including diagnosis journey (which can be a long and psychologically difficult process), day-to-day management, and digital behaviours. With such a small patient population, the sample of people we spoke to was highly representative of the US-based patient population.

The data was analysed according to thematic analysis to produce a set of key themes and sub-themes for each age group, which included themes such as:

• Experience of living with the disease

• Disease management

• Experience with the patient support service

• Needs for improved care

• Digital behaviours

The insights not only provided rich context and patient perspective about the disease and lived experience, but also allowed our researchers to create a patient journey map to describe the patients’ journey with the client’s product from pre-diagnosis through to treatment, and to plot the needs, pain points, and opportunity areas in a clear visualisation.

Our research team also created 3 key patient personas from the data, which were later used to anchor stakeholder teams around their core patient types during design workshops.

At the time of the study, there had been little documentation of the patient experience as told by the patients themselves — both internally within our client’s organisation, but also across the wider body of literature, due to the disease prevalence being so low.

These insights provided valuable knowledge that could be applied not only in the context of this project but across the client’s wider organisation to inform future cross-functional initiatives, outward messaging, and decision-making.

We used the data and insights from the research study to inform a collaborative design workshop with our client team, where we made evidence-based decisions about solution type, features, and functionalities to take forward to the next design phase.

Drawing on our research findings and workshop efforts, we’re now preparing to collaborate with our client on a full design phase, in which we will be designing, prototyping, and usability testing an MVP for a proposed digital patient support tool.

The data gathered through our research was able to satisfy each of our 3 objectives; bringing us closer to the reality and experiences of the target patient users, identifying sub-optimal patient engagement levels, and discovering key opportunity areas where a digital solution could support patients.

Our study also provided our client with an updated patient perspective and an important snapshot of the real issues currently being faced by their patients.