Clinical Research: Phase 1 - Phase 4

Charting the Path: How Patient and Caregiver Journeys Guide Rare Disease Study Design

It comes as no surprise that putting patients first is imperative for achieving success in rare disease development programs. However, to what extent can sponsors integrate patient input into their study design while still securing the high-quality data they need?  Although a bit of a balancing act, it is possible to design a study that will successfully meet endpoints while making participation easier for both patients and caregivers. It starts with understanding the patient and caregiver journeys, identifying their challenges and needs to ensure studies are designed with these factors in mind. This patient-centric approach helps sponsors not only optimize product design and value, but also enhance clinical trial recruitment and retention.

Clinical trials: A source of hope

For patients with rare diseases, the road to diagnosis is often long and arduous. The mean time to diagnosis is 7-8 years but can often exceed a decade.1,2 In the interim, the patient has likely seen multiple physicians across many practices and undergone a myriad of tests while their health continues to deteriorate. As newborn screening and genetic testing becomes more common and cost-effective, the speed of rare disease diagnosis may improve. However, even when a diagnosis is made, there may be few, if any, approved treatment options. Thus, for many patients with rare diseases, clinical trials may be the only source of hope.

The dynamics of patient and caregiver journeys

With rare diseases, there is often little information on the natural history of the disease, so interacting directly with patients and caregivers may be the only way to gain relevant insight into the condition. Patients and caregivers know best the daily challenges they face, their needs and preferences, and the tradeoffs they might be willing to accept in exchange for access to novel therapies. Importantly, the patient and caregiver experience is dynamic—as the disease progresses, the physical, emotional, and psychological impact of the condition will change, and the journeys will need to be updated.

Talking to key opinion leaders and clinicians who care for those with the rare disease of interest will help sponsors map out the different paths patients may take through the healthcare system, as well as any treatment plans or best practices. Often, this exercise will reveal potential gaps and pain points that can be used to inform and improve product development and clinical trial design.

Patient advocacy groups may also be a valuable source of information when mapping out rare disease journeys. These groups often build and maintain registries for tracking disease characteristics, symptoms, and progression over time. Well-established registries may even be useful for identifying potentially eligible study participants.

Lightening the load to improve participation

Given the complexities of rare diseases, enrollment in these studies does not stop at the patient alone. Often, patient’s caregivers and, at times, their broader family unit, will be involved or impacted at various points of the trial. Understanding what the patient and caregiver(s) each go through at every stage of the disease enables sponsors to design studies that account for what participants can tolerate and would be willing to take on. Study design elements that can be informed by patient and caregiver journeys include:

  • Frequency of visits
  • Required assessments
  • Invasiveness of testing
  • Number of blood draws per visits
  • Number of physicians the patient needs to see during a single visit
  • Length of time spent at the site per visit

Each of these elements contributes to study burden, so sponsors need to find a balance between what is required for maintaining data quality and what could potentially be reduced or eliminated to make participation easier for both patients and caregivers.

Offering the white glove approach

Travel and time away from home can be draining for both patients and caregivers. Providing door-to-door concierge services by assisting with transportation and accommodation arrangements makes it easier to comply with trial-related visits. While patients are on-site, there are opportunities to ease and elevate the experience through a white-glove approach:

  • Providing a map and itinerary so patients know where to go and when
  • Creating a VIP line that minimizes wait times for lab or imaging procedures, if applicable
  • Remembering that small details such as telling patients where to park can make a big difference

Where possible, sponsors may consider offering off-site visits or flexibility in visit windows, giving patients and caregivers greater freedom to manage the study within their personal and professional schedules. Providing emotional support options such as counseling, networking, and advocacy meetings can also help participants stay motivated to remain in a study. Perhaps one of the most effective engagement tools is information—not just ongoing education, but also periodic updates on how the trial is progressing to remind patients and caregivers that they are making important contributions to rare disease research.

Embarking on the journey, together

Designing trials that account for both patient and caregiver needs can improve the overall experience of study participation and may contribute to improved patient retention and higher quality data. More broadly, understanding the patient and caregiver journeys can help to inform the development of new treatments and services for those living with rare diseases.

At Premier Research, our experience spans all aspects of rare disease drug development and clinical trials, encompassing more than 240 studies across multiple indications in the past five years. To learn more about how we can help you incorporate insights from patient and caregiver journey mapping into product development and study design, contact us.

[1] NORD. Early diagnosis: Perspectives from NORD student chapter leader, Harjot Randhawa. Available at

[2] Marwaha S, Knowles JW, Ashley EA. A guide for the diagnosis of rare and undiagnosed disease: beyond the exome. Genome Med. 2022;14(1):23.