The following Insight is a featured article from WCG’s 2025 Trends & Insights Report. If you would like to read more insights from this report, please click here.

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. 

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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The post Challenges and Innovations in Rare Disease in 2025 appeared first on WCG.

Patients and families from minority groups, and those who come from less economically stable environments often face significant barriers to safe and accessible health care. These can include a lack of supportive resources, such as parental education and awareness of diagnosis and treatment options, or available access to ongoing clinical trials for their conditions. Further impacting access is the historical mistrust toward clinical research studies many minority communities hold, a lack of community representation, and limited engagement with patient advocacy groups that provide supportive guidance and direction. These limitations can readily lead to a delay in diagnosis and access to available treatment options, impacting potential outcomes. A further challenge for many families, both in urban and rural areas, can be more limited access to resources and facilities where diagnosis and intervention take place. Together, these contribute to diminished opportunities for care and poorer outcomes for diverse communities affected by rare diseases.  

When we think about social determinants of health-related access barriers, we must consider factors related to healthcare professional education and knowledge regarding rare diseases. It is the case that many families first rely on available sources of primary care, including family and general practice physicians or nurse practitioners, who may not be as informed about current information regarding rare and ultra-rare diseases. Similarly, primary care practices may not have enough resources or advanced technologies available for faster diagnosis and treatment options. These challenges can be further complicated for minority and under-resourced communities when awareness of specialty care and the availability of practitioners versed in understanding the diverse needs of affected individuals is more limited. 

Importantly, it has been recognized that there is a significant need to provide healthcare professionals and clinical trial investigators with relevant continuing education and training about the importance of diversity, equity, and inclusion strategies regarding the diagnosis and treatment of individuals with rare diseases. Starting early with medical and health care training, the integration of curricula regarding the social and behavioral determinants of health has begun to contribute to better coordination of elements of care, leading to faster diagnosis and, when available, access to developing and approved treatments. Furthermore, improving resources and availability of specialist care and adding greater diverse community representation, such as connecting with patient advocacy groups, have improved outcomes for minority persons with rare disease and their caregivers.  

More specifically, sponsors running clinical trials, including pharmaceutical companies and the individual investigators conducting their studies, have been directed to think more clearly and to state explicitly within their study objectives and design how they will directly address diversity and equity considerations. Unique in 2024 is the extent to which emerging practices regarding equitable clinical trials have begun to standardize as drug developers and other stakeholders become familiar with the methods of diversification required of them, which will ultimately lead to a required increase in the numbers of diverse participants who are represented in and serve as beneficiaries of treatment research. 

During protocol development, sponsors and investigators are also encouraged to carefully assess research methodologies and approaches, research outreach and recruitment methods, and improve the availability of adequate resources to accommodate minority populations for ease of recruitment. Community-based participatory research methods can support this effort, ensuring that individuals from minority communities with rare diseases are included in the design and implementation of the research from the start, and by identifying and resolving potential clinical biases. Community-based participatory research uses collaborations between research organizations, investigators, and community members throughout all aspects of a research project. This approach is important given its commitment to engaging and representing intersectionally diverse populations affected by rare and more common diseases and fostering greater engagement across minority communities. 

Trial diversity and rare disease drug development together will benefit from the growing collaboration by the FDA regarding the necessity for diverse and equitable representation in clinical trials and biotech companies’ increasing familiarity with the resulting best practices in development. Tools to reduce the diagnostic odyssey will continue to reduce the cost and burden of rare diseases, while advocates’ work with policymakers will better open access to these tools and investigation strategies.  

The new DEPICT Act passed recently by the U.S. Congress requires the FDA to require sponsors to submit Diversity Action Plans with their Phase III or other pivotal trials. The FDA has urged both large pharmaceutical companies and the growing number of smaller biotech drug developers involved in rare disease research to reach out and work with them early in the investigatory process to develop protocols and find solutions to the challenges this new requirement presents. The DEPICT requirement comes at a time when the industry is a few years further down the road from the events of 2020, including the COVID-19 pandemic, which awakened a new, sincere investment in being more inclusive in health care across all stages of development and ultimate treatment, including clinical research. 2024 is a specific year to watch this investment translate directly into best practices.  

Additionally, better tools in genomic screening are available now, which help reduce the diagnostic odyssey and connect rare disease patients with new treatments and early interventions that can save their lives and prevent unnecessary damage from the disease. Policies to open access to these fresh solutions more broadly across diverse affected communities will remain an active focus for rare disease advocates and collaborating policymakers in 2024.  

A growing body of evidence shared recently has shown how policies that help families of rare diseases also benefit society. Two studies commissioned by the EveryLife Foundation for Rare Diseases^3,4 will be used in dialogue with policymakers: one quantifies the cost burdens on families and society of rare diseases, and the other quantifies the avoidable costs of the diagnostic odyssey. Legislation is in the works to provide access to treatments and diagnostic tools to people regardless of zip code and income level. Watch for legislative efforts to open access to newborn screening, including rapid genome sequencing, genetic counseling, and early intervention services. Small patient populations have always hampered rare disease research. As we expand our definition of who participates in the research and its benefits, the population sizes grow.  

Lastly, and important to how the process regarding greater diversity and equity in clinical research will unfold, the FDA has already issued draft guidance on enhancing the diversity of clinical trial populations, providing recommendations to sponsors to enroll representative numbers of participants from underrepresented racial, ethnic, gender diverse, and economically diverse populations in the United States. This is being further supported by Institutional Review Boards (IRBs) reviewing current research proposals with an eye toward DEI and representative justice. IRBs play a key role in determining the availability of clinical trials for minority populations in rare diseases. One of the criteria for approval is consideration of the equitable selection of research subjects. As per the Belmont Report, no individual group should be absolutely included or excluded from clinical study without justifiable scientific or ethical reasoning. IRBs can review the submitted justification and study design for scientific and ethical validity, and ensure adequate safeguards and protections are in place for the study population more broadly. This will lead to both greater recruitment of diverse participants and clearer knowledge regarding potential outcomes. 

References

1. Bainbridge, M.N. (2020). Determining the incidence of rare disease. Human Genetics, 139, 569-574. DOI: 10.1007/s00439-020-02135-5 
2. Smith, C.I.E., Bergman, P., & Hagey, D.W. (2022). Estimating the number of diseases – the concept of rare, ultra-rare, and hyper-rare. iScience, 25, 104698. DOI: 10.1016/i.isci.2022.104698 
3. The national economic burden of rare disease in the United States in 2019 
4. The Cost of Delayed Diagnosis in Rare Disease – a Health Economic Study 

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The post Current Opportunities and Outcomes in Rare Disease Clinical Trials appeared first on WCG.

Intelligently Connecting Data and Insight to Navigate the Clinical Research Trends of Tomorrow

Advancing health is all about connections. Connecting people, data, insights, and technology for a better, more efficient clinical trial experience. So as the calendar turns over to another year, we’ve asked our scientific and subject matter experts to connect our data with their expertise and share their thoughts about what trends, changes, and innovations they are looking forward to in 2024 and beyond.

While the industry continues to adjust in a post-COVID world, as of this publication we expect clinical trial starts in 2024 to be up slightly over 2023. Despite this improvement, disconnects remain. Sites continue to struggle with resourcing and the demands of working in multiple technology platforms. Sites, sponsors, and CROs are working to bridge the gap between artificial intelligence, machine learning, drug development, and decision making. All stakeholders are focusing on the continued promise of digital health tools that provide researchers with real-time data, as well as new approaches to clinical trials that prioritize the needs of participants first – beyond the protocol.

Below, our experts will connect you with insights to prepare you for what we expect to be another progressive year in the industry.

Diversity, Equity & Inclusion

Lack of diversity in clinical trials can impair quality, increase costs, and put patient safety at risk. Many therapies work differently depending on a person’s gender, race, and ethnicity, so without diverse participants, scientists and clinicians have only a limited understanding of the effectiveness and suitability of treatments for underrepresented populations. 

These critical differences are eventually discovered — after  the therapeutic has been approved and is in widespread use. The barriers to diversity have been well-documented, but despite significant progress, the industry still struggles to overcome them. 

While everyone agrees on the importance of diversity in clinical trials, the 2021 WCG Avoca State of the Industry Report: Diversity in Clinical Research Execution and Participation report found that respondents who saw the pursuit of diversity as a scientific or ethical imperative felt more strongly about its importance than those who considered diversity to be important primarily for regulatory or marketing reasons.  

The scientific case for diversity is largely settled. What’s left is continuing to make the case with key stakeholders in moving DEI initiatives for clinical trials forward in a meaningful way. In this section, our experts will make the case for the significance of DEI in rare disease clinical trials.

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Decentralized & Hybrid Trials

The COVID-19 pandemic drove interest in decentralized (DCT) and hybrid trials. As the world emerges from the global pandemic, the utility of DCT elements continues as DCT and hybrid trials enable the delivery of a more participant-centric approach to research, as treatments can be delivered remotely, sponsors can engage with a more diverse patient population, and recruitment efforts can be accelerated. 

But while digital devices, mobile applications, and online communication methods are useful tools, they are not complete solutions. The launch of Apple’s ResearchKit facilitated the enrollment of thousands of participants into research programs on a wide variety of chronic diseases, but several weeks later, about 90% of initial enrollees had dropped out of the project. As such, it’s important for the industry to determine the right mix of virtual and on-site care.  

From a regulatory perspective, if the protocol is designed as a DCT or a hybrid trial, some or all research activities may occur at locations that are not traditional clinical trial sites. For example, a local healthcare provider clinic, a mobile unit, or the participant’s house may serve as the location for some research activities.   

In 2023, the U.S. FDA issued its guidance on the design and implementation of DCTs and updated its position on using electronic systems, electronic records, and electronic signatures in clinical investigations.  In addition to guidance development, the FDA has created a framework that includes workshops, demonstration projects, stakeholder engagement, a website, and internal processes to evaluate decentralized and virtual trials.  

In this section, our expert outlines the impact of DCTs and hybrid trials on vaccines, and how we can continue to bring the promise of more patient-centric care through the enablement of DCTs. 

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Research Site Readiness

The evolution of clinical research has been dependent on the conversion of Healthcare Organizations (HCOs) to clinical research sites, along with the conversion of Healthcare Providers (HCPs) to Principal Investigators (PIs).

These conversions are critical to advancing medicine and providing cutting-edge treatment to patients. However, the current clinical research landscape has become increasingly intricate due to complex protocols, demanding data collection needs, and constricted study timelines, causing a slowdown in the conversion of HCOs and HCPs. As a result, the number of clinical trials now being initiated exceeds the amount of clinical research sites available to conduct these trials. 

Because of this, active clinical research sites have become saturated and are facing unrelenting pressure to meet protocol endpoints within the timelines dictated. With only 15% of HCOs conducting clinical research according to industry sources, sponsors and CROs must ensure existing study sites are fully enabled to conduct efficient studies so protocol endpoints can be successfully met. To do this, sponsors and CROs must enable their study sites from the very beginning. Effective site enablement must address several key factors, including protocol design, training, participant recruitment and enrollment, and more. 
 
Likewise, sites can optimize and grow their research businesses by harnessing solutions that improve site capacity, reduce start-up delays, and lessen their administrative burden. By leveraging site enablement solutions, sites can increase operational efficiency, recruit, and retain more participants sooner, deliver quality data, and improve their financial performance.  

Read on for insights into how sponsors and CROs can better enable the research sites conducting their studies and how sites can address site capacity constraints.

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Download the full Trends & Insights as a printable PDF below:

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The post Clinical Trial Trends & Insights 2024 appeared first on WCG.

About this episode:

Listen to the latest episode of WCG Talks Trials to hear from experts on the importance of diversity, equity, and inclusion in clinical research and how intersectionality plays a role in promoting DE&I. We’ll discuss why diversity is pivotal for comprehending the full spectrum of clinical care mechanisms and review effective DE&I strategies being deployed today.

Discover how communities can be more actively engaged in clinical research and hear real-world examples of success stories in promoting diversity, equity, and inclusion within clinical research.

Moderator & Speakers:

Scott J. Hunter, PhD

Senior Scientific Expert, Neurodevelopmental and Rare Pediatric Diseases, WCG

Sonya Dinizulu, PhD

Associate Professor of Psychiatry and Behavioral Neuroscience, University of Chicago

Desiree Underwood-Williams, PMP, CLSSBB

Director, Project Management Office, WCG

The post The Importance of Diversity, Equity, Inclusion, and Intersectionality in Clinical Research appeared first on WCG.