19 - TL BEDROCK - The increasing value of rare disease trials

A rare disease diagnosis can quickly turn from shock to questions on prognosis, treatment options, trials, quality of life and impact on family and friends. How can I find information on the condition and learn from other patients’ experiences? These questions will be particularly familiar to the 30 million Europeans living with rare diseases and with 50% of rare disease diagnoses occurring during childhood, parents have the added burden of trying to teach their children how to manage their condition.

Current treatments are usually supportive rather than disease-modifying, leaving most rare disease patients with considerable unmet medical needs. Increasing awareness around lack of treatment options to address these needs has led to a growing number of clinical trials. There are several factors that are providing hope for patients and their families, and increasing the value of this area of research:

Advances in genomics, proteomics and other areas of scientific research have led to a better understanding of the underlying mechanisms of many rare diseases, providing new targets for drug development
The pharmaceutical industry and investors are showing increasing interest in developing treatments for rare diseases due to their potential for high ROI and the possibility of securing market exclusivity through the Orphan Drug Act
Governments are providing financial incentives and regulatory support to encourage the development of treatments, including tax credits and fast-track approval processes.

The underlying biology of rare diseases can be complex and poorly understood, making it challenging to design effective clinical trials. Both commercial trials and academically sponsored studies share questions around trial design. Small patient populations make it challenging to recruit and mitigate dropout and, ultimately, navigate challenges of regulatory approval even if the bar for efficacy and safety are met.

The limited public awareness of the disease or clinical trial can make it difficult to reach potential participants. The wide geographical dispersion of patients, language differences and varied time zones can add complications. Attending trial centres may result in significant time and cost burdens, and trial requirements can add to the daily disease burden that patients already face.

Trial design and delivery in the rare disease arena bring considerations and potential pitfalls for researchers, patients, pharma and regulators. Anticipating these ahead of trial design can increase the chances of success and achieving the ultimate goal of an investigational product reaching market.

Working in rare disease offers Medical Affairs professionals and agencies like Bedrock the opportunity to engage and communicate directly with HCPs, researchers and patient organisations. By leveraging the following strategies, we can help maximise the value of clinical trials in rare diseases and support improved patient outcomes:

Taking a patient-centric approach by involving patients and their families in the design and implementation of clinical trials, ensuring their needs and perspectives are incorporated into the trial process and associated materials
Building strong partnerships with patient organisations, healthcare providers and industry to identify potential participants, overcome logistical challenges and increase awareness about trials and the benefits they bring to patients and society
Educating HCPs, patients and their families about clinical trials and the steps involved in participating in them
Supporting recruitment efforts by communicating the benefits of participation in clinical trials and addressing common misconceptions or fears patients may have
Effectively disseminating trial results and findings to relevant stakeholders so they are informed on the latest developments in the field
Facilitating stakeholder engagements by creating opportunities for meaningful dialogue and collaboration between patients, their families, healthcare providers and industry
Maximising the use of social media and online forums, helping to reach and engage a wider audience, even in geographically dispersed populations
Leveraging technology, such as telemedicine or digital health tools, to help streamline the trial process, increase patient engagement and overcome barriers to participation.

By embracing these strategies, agencies can bring agility, flexibility and innovation to supporting clinical trials in rare diseases and help drive progress towards new treatments for these underserved patient populations

References are available on request.

The increasing value of rare disease trials

The number of rare disease trials is growing

Not an easy road

Unique position of Medical Affairs and medcomms agencies