Looking to the future of clinical trials: Gene therapy, precision medicine, and the ongoing quest for rare disease solutions

gene chromosome molecule

Next-generation technologies in medicine have significantly expanded our ability to identify and address rare diseases, propelling forwards the development of more effective and targeted treatments.

Recent research efforts worldwide have yielded noteworthy progress, influencing the lives of individuals grappling with numerous rare disease types. The period post-2010 has witnessed an unprecedented surge in the approval of treatment options, marking a transformative era in rare disease therapeutics.

The current landscape is evolving as the medical community delves into the realms of gene therapy and precision medicine, representing a new frontier in research. Recognising the pivotal forces that instigated this initial wave of change is crucial, as it lays the foundation for ongoing improvements that push the boundaries of what is achievable for patients today. Advances in these cutting-edge technologies hold promise for continued breakthroughs, offering hope to those affected by rare diseases.

The call for improved rare disease treatment options

In 1983, when the Orphan Drug Act was signed into law, there were 16 orphan drug designation requests. By 2019, the number of orphan drug designation requests had increased significantly to over 700 annually. That growth is attributable to many factors, but perhaps most importantly the powerful impact of advocacy. When patients and families, patient organisations, clinical development organisations, clinicians, and researchers joined to create one voice calling for improved rare disease treatment options, the result had a meaningful impact.

This surge in orphan drug designation requests since the inception of the Orphan Drug Act in 1983 underscores the growing recognition of the importance of rare disease research and treatment development. Advocacy has played a pivotal role in driving this progress, amplifying the voices of those affected by rare diseases and advocating for policies that incentivize and support research and development in this area.

Through tireless efforts, advocacy groups have raised awareness, mobilised communities, and influenced policymakers to prioritise rare diseases on the global health agenda. The collaborative efforts of patients, families, advocacy organisations, and the medical community have fostered a supportive ecosystem for rare disease research and clinical trials, paving the way for transformative advancements in diagnosis, treatment, and, ultimately, the lives of those living with rare diseases.

The undiagnosed journey through the healthcare system

Despite advancements in genotype–phenotype correlation and gene discovery, the undiagnosed journey within the healthcare system persists for most rare disease patients, highlighting the urgent need for early and accurate diagnoses, access to emerging treatments, and enhancements in quality and quantity of life. As research efforts continue to drive new treatment options, the environment for patients can be further improved using the same approach that first brought change: to collectively solve challenges with the spirit of patient advocacy. Clinical trial teams, working together with all relevant stakeholders, play a vital role in this by:

  • Expanding the reach of trials and potential treatment options to new clinical sites
  • Educating healthcare practitioners and patient communities about clinical research participation
  • Connecting patients to sites, sites to patients, and patients to patients through traditional grassroots outreach and new digital platforms
  • Sharing transparent trial progress information with participants

Success in rare disease trials

Some of the differences between rare disease trials and other types of research studies are found in the site selection approach, level of protocol complexity, and extended durations between study visits. It is important for clinical research teams to consider these factors and make adjustments at the start of a rare disease trial. Ensure a strong start by unifying stakeholders, offering sufficient support tools, and creating a platform to share successes along the way:

1. Unify stakeholders. In rare disease research, the distinctive site selection process involves identifying patients, rather than primary investigators. Sites with rare disease research expertise often maintain robust relationships with sponsors. The crucial approach is to unite all stakeholders, including patients, caretakers, sites, key opinion leaders (KOLs), contract research organisations (CROs)/vendors, and the sponsor.

2. Offer support tools. Enrolment in rare disease studies tends to be slow, leading to extended gaps between screening visits. Providing sites with support materials is crucial for easy access to protocol information, addressing challenges such as inclusion/exclusion criteria. Given the difficulty rare disease patients face in finding suitable care, fostering trust between patients and principal investigators becomes vital for sustained engagement during a trial, facilitated by support tools that enhance communication pathways.

3. Share successes. Facilitating communication and success-sharing among research sites is highly beneficial. Regular webinars or face-to-face meetings for study coordinators to exchange ideas foster a motivated and impactful community. Sustained collaboration among rare disease research sites remains crucial.

The landscape of rare disease research has witnessed remarkable strides in recent years, with the advent of cutting-edge technologies and an exponential growth in approved treatment options. While the momentum in genotype-phenotype correlation and gene discovery is evident, challenges persist in providing timely diagnoses and accessible treatments for the majority of rare disease patients.

Emphasising collaborative efforts among stakeholders, including patients, caretakers, sites, key opinion leaders, and sponsors remains paramount for advancing our understanding and addressing the unique challenges posed by rare diseases in contemporary research.

Meredith Gartner
profile mask
Meredith Gartner