Challenges and Innovations in Rare Disease in 2025

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When considering what stands as a powerful need within the rare pediatric disease clinical trial community in 2025, it is a recognition that one of the most significant factors at play is genetic variability and how that is addressed regarding clinical trials. It is definitional in rare disease research that we consider conditions that impact a small number of individuals in comparison with many other diseases under investigation. Simultaneously, because these diseases are most frequently genetic in their development and expression, it becomes necessary for teams working to understand the diagnosis and screening of these conditions and in the development of potential treatments that can ameliorate their impact, that the variation of the disease is an important focus.  

As discussed recently by Baynam and colleagues (2024), “rare disease genetic variation tends to cluster within different populations, geographic locations, and ancestry groups” (p. 261),¹ leading to a need to prepare to address both inclusivity and accessibility when engaging in clinical trials of new potential treatments. As an example, with a rare lysosomal storage disease like Gaucher, prevalence worldwide is between 1/40,000 and 1/60,000 births, depending on the type, with specific genetic pools and regions affected (i.e., with Gaucher type 1, which affects 90% of patients with Gaucher disease, the majority of individuals are from Europe and North America). Notably, the incidence of Gaucher type 1 among Ashkenazi Jewish families is 1/450 births, highlighting a particularly vulnerable genetically related population. 

To address this specific concern, it has become important within pediatric rare disease networks to push treatment researchers toward developing and implementing global clinical trials. Global trials where patient populations who are at most risk can be engaged and recruited for potential new interventions. To facilitate this approach to addressing health disparities that impact treatment access in particular, the identification of clinicians and study sites has become focused on maximizing inclusion opportunities and increasing accessibility to trials.  

Given the current geopolitical context, this also means that clinical trial support networks must engage in greater outreach and recruitment of new potential researchers internationally. One of the outcomes of this need is the attention to accessibility of appropriate outcome measurements and meaningful endpoints that support understanding a broader potential for improvement and change given the treatments being evaluated. This means improved approaches in assessment both at appropriate medical sites and clinics, as well as within the field, at homes, and at local sites, that can foster greater participation of individuals affected and their caregivers. Similarly, improving approaches to ensure linguistic and cultural considerations with such endpoint measures have been pushed to the forefront. 

The focus on diverse participation and access to the populations needed for assessing clinical trial efficacy and outcome has led directly to a need to think outside our typical approaches taken and to reframe what the best option is for ensuring effective trial development and participation. This move forward has fostered increased success, without a doubt, within the neurodevelopmental and rare disease domains when thinking about treatments for pediatric populations. It remains the key consideration, in tandem with caregiver outreach and feedback, as we progress through 2025. 

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References:

1. Baynam, G., Baker, S., Steward, C., Summar, M, Halley, M. & Pariser, A. (2025). Increasing diversity, equity, inclusion, and accessibility in rare disease clinical trials. Pharmaceutical Medicine, 38, 261-276. DOI: 10.1007/s40290-024-00529-8

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