80% of rare diseases are monogenic (caused by a single gene mutation) and often present during childhood. These two factors have seen a rise in pediatric cell and gene therapy (CGT) trials in the last decade, as researchers work to develop potentially curative treatments for children living with a rare life-altering disease.
Whilst rare disease trials can offer life-changing opportunities for patients and their families they also present unique challenges. On average, pediatric clinical trials have a 40% discontinuation rate, already significantly higher than in adult trials. CGT trials bring additional complexities:
These factors create significant psychological and practical challenges for children and their guardians, requiring tailored support throughout the full trial.
At Little Journey, we’ve conducted extensive research to understand how to better support families through these trials. Here are three strategies to improve engagement, adherence, and completion rates in rare disease trials.
If you asked four people how they learn best, you'd get four different answers. When patient information is only provided in one format, like a leaflet or a video, research teams leave a gap in the number of patients who can engage with and understand that information.
Our survey into the preferred learning style of children with a rare disease (n=44, aged 4-12) found a fairly even split:
Parents and caregivers also show significant individual variation in their information wants and needs. Every person processes a life-changing diagnosis differently. Some want to know every detail of the condition, treatment, and clinical trial process. Others, however, rely on information avoidance as a coping mechanism.
There is no one-size-fits-all approach. That’s why we take a toolbox approach with Trial Flow, offering a selection of resources that families can pick and choose from when they need them. Our patient support delivery platform can be configured for:
To learn more about Trial Flow's flexibility book a capabilities call.
The key challenges families face vary not only from person to person but also depending on where they are in their CGT journey.
The treatment phase for CGT is a comparatively short step within the overall trial. Before treatment comes discovery of CGT and the trial, screening and consent, and planning. After comes a prolonged phase of monitoring.
The below diagram shows some of the key psychological barriers families phase at each stage of a trial.
As you can see, each stage brings unique burdens. Families are processing complex medical information, making life-changing decisions, and undergoing investigations. All whilst balancing work, school, and other medical appointments.
These quotes from two parents of children living with a rare disease illustrate the weight of the emotional burden on families:
"This is potentially a life-changing “needle in the haystack” opportunity"
"Every aspect of life is a struggle when you have a child with a long-term illness."
Without tailored support at each stage, these burdens can become overwhelming. This has a knock-on impact on enrolment, engagement, adherence, and retention in a trial.
We use the established COM-B model of behavior change to deliver appropriate psychological interventions at each stage. This model identifies barriers in capability, opportunity, and/or motivation preventing a behavior.
For example, in rare disease studies, patient compliance with ePRO is often required to maintain data quality and meet study endpoints. However, many families report that they:
We can use these insights to develop different interventions - like training or modelling - to help overcome these barriers.
The term 'unhappy path' comes from user experience (UX) design. It refers to a scenario where a user encounters obstacles or unexpected situations that deviate from the ideal user journey, leading to a negative or unsuccessful outcome for that user.
In the context of rare disease trials, 'unhappy paths' are moments where things don't go as planned for a family. There are lots of potential unhappy paths in pediatric CGT trials.
It is essential that these families receive the right emotional and practical support to navigate their next steps while maintaining trust in clinical research. This is particularly important as CGT research continues to expand within small patient population where recruitment is already challenging.
83% of caregivers we spoke to said their own mental health had been impacted by their child's rare disease diagnosis. It is often the caregivers who are most aware of the burden participating in clinical research can bring.
We map these potential unhappy paths and provide tailored support for those intense points of stress. You can read more about how our team, including our in-house psychologist, worked with families and patient advocacy groups (PAGs) within the Duchenne muscular dystrophy (DMD) community to address this challenge in our case study.
We also incorporate resources to support parents and other support partners, as well as the patient participating in the trial. These include:
Rare disease trials face unique hurdles, but by prioritizing psychological support, personalization, and long-term family engagement, sponsors and CROs can improve success rates.
At Little Journey, we specialize in making Trial Flow the evidence-based platform to support patients and families through clinical trials.