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  • Writer's pictureThe Rare360 Editorial Team

Transforming Rare Disease Research: Insights into Clinical Trial Challenges

Challenges in Designing Rare Diseases Clinical Trials and how Rre360 can help overcome them

There are over 8,000 identified rare diseases, and approximately 80% are genetic. Globally, rare diseases affect an estimated 3.5% to 5.9% of the population, translating to around 260 to 440 million people. However, only 7% of these rare diseases have treatments approved by the FDA. There are more than 500 orphan-designated drugs available worldwide, with most targeting cancers, followed by blood disorders.

One of the significant challenges biopharmaceutical companies face in developing treatments for rare diseases is the difficulty in recruiting, engaging, and retaining patients for clinical trials. This challenge makes it harder to design effective trials and limits the availability of treatment options. Consequently, most current treatments are supportive rather than disease-modifying, leaving many patients with substantial unmet medical needs.

Despite these challenges, the number of clinical trials for rare diseases has grown significantly over the past five years (2018-2022), reaching nearly 16,000 trials globally.

Key Challenges in Designing Rare Diseases Clinical Trials

Let's explore some of the major challenges biopharmaceutical companies encounter when designing clinical trials:

  • Limited Understanding: Rare diseases are often not well understood compared to more common diseases. The scarcity of information about the disease's pathophysiology, natural history, underlying mechanisms, and the patient/caregiver's lived experience makes it challenging to design effective clinical trials.

  • Small Patient Populations: The low number of people diagnosed with each rare disease poses a significant hurdle. Traditional clinical trials require a sufficient sample size to achieve statistical significance. However, recruiting enough participants for rare diseases can be difficult due to their rarity.

  • Heterogeneity of Diseases: Rare diseases often have diverse manifestations, even among patients diagnosed with the same condition. This variability can complicate the collection and analysis of data, as the patient population may not be homogeneous enough to draw broad conclusions.

  • Diagnostic Delays: Rare diseases often have long diagnostic odysseys, with patients waiting years for an accurate diagnosis. This delay can have a significant impact on clinical trial recruitment, as each trial must enroll a significant number of patients to measure whether or not the potential treatment is therapeutic.

  • Lack of Established Endpoints: For many rare diseases, established endpoints (defined clinical measures) do not exist. Unlike common diseases where specific markers or outcomes are well-established, rare diseases often lack clear clinical trial endpoints. Researchers must often develop novel endpoints tailored to the rare disease they are seeking to study.

  • Undefined Clinical Trial Roadmap: Rare diseases frequently lack a clearly defined clinical trial roadmap. Unlike more prevalent conditions, where regulatory pathways and development guidelines are established, rare diseases often present uncharted territory. Companies must navigate this uncertainty while adhering to regulatory requirements.

  • Patient Registries and Data Sources: Rare disease patient registries, which track disease prevalence, natural history, and patient characteristics, are often scarce and easily grow to become outdated. Without robust data sources, designing effective clinical trials is extremely challenging. Companies are required to collaborate with patient advocacy groups, community-based networks to gain access to comprehensive disease-specific data sources.

  • Regulatory Challenges: Regulatory agencies recognize the unique nature of rare diseases but still require rigorous evidence for drug approval. Balancing the need for robust data with the practical challenges of conducting trials in small patient populations is a delicate task.

  • Ethical and Privacy Concerns: Ethical concerns often arise when recruiting rare disease patient populations. Researchers must ensure informed consent, minimize risks, and prioritize patient well-being while advancing scientific knowledge. Conducting research within small patient populations can raise several ethical issues, particularly around patient privacy. Companies must navigate these concerns consciously to maintain trust and compliance with ethical standards.

  • High Research and Development Costs: Conducting clinical trials can be quite expensive, as the cost per patient tends to be higher for rare diseases. Clinical trial costs tend to be higher for rare diseases as a result of several factors including, but not limited to, recruitment challenges, specialized disease-specific care requirements, and the specificity and complexity of the potential treatment being researched. The higher costs for rare diseases increase the overall financial risk associated with investing in these markets, as the potential return on investment is uncertain.

  • Limited Expertise and Awareness: There is often a lack of medical and scientific expertise readily available on rare diseases, which can hamper the development of effective research methodologies and the interpretation of data. Additionally, when general awareness about these diseases is typically low, the rate in which a patient receives an accurate diagnosis tends to be slower, which directly impacts patient recruitment for studies.

  • Market Estimation Difficulties: Estimating the potential market size for a new treatment in a rare disease is challenging due to the above factors. This can lead to difficulties in justifying the financial investment required for drug development and marketing.

Addressing these challenges requires innovative approaches to research, such as collaborating with patient advocacy groups, community-based networks, utilizing advanced analytics to enhance small data sets, and developing specialized expertise and trust within rare disease markets.

Future of Rare Diseases Clinical Trials with Rare360

Rare360 is the sustainability program of the Rare Advocacy Movement (RAM), crafted to serve the unique needs of the rare disease community. This program empowers stakeholders within the community to build strong, trusted relationships with rare disease advocates, activists, patients, caregivers, and care partners.

Utilizing the extensive RAM network, Rare360 excels in recruitment and engagement services. A cornerstone of Rare360 is its unwavering commitment to security, privacy, and respect for each individual involved. To ensure confidentiality, Rare360 only shares an individual's first name and manages all honoraria payments, safeguarding personal information and upholding trust across the global RAM network.

By partnering with Rare360, biopharmaceutical companies have the opportunity to connect with rare disease patients from diverse backgrounds around the world. This program not only facilitates the effective execution of market research studies but also clinical trial design, maintaining the crucial elements of patient trust and privacy. In doing so, Rare360 helps bridge the gap between the medical research community and the rare disease population, fostering advancements in treatment, care, and overall quality of life.



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