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Examining the challenges, progress, and significance of clinical research in honor of Rare Disease Day, February 29, 2024.

Rare disease trials are clinical studies designed to evaluate the safety and efficacy of treatments for rare diseases, also known as orphan diseases – a category affecting 300 million people worldwide. In the United States, rare diseases are defined as conditions that affect fewer than 200,000 people.[1] In the European Union, a rare disease is defined as affecting fewer than 1 in 2,000 people.[2] However, according to the National Center for Advancing Translational Sciences, 1 in 10 people are affected by a rare disease, 1 in 2 diagnosed are children, and their estimated yearly medical care costs total about $400 billion. [3]

Challenges of Rare Disease Clinical Trials

Numerous challenges exist with these types of trials, including limited patient populations that are often geographically dispersed. These patients often have diverse genetic, clinical, and environmental factors that can influence the course of the disease and the response to treatment. This can make it difficult to identify a homogeneous patient population for a clinical trial.

There are also ethical considerations where limited or no other treatment options are available. Also, because the natural history of many rare diseases is not well-characterized, it is challenging to design a clinical trial with an appropriate control group. In addition, many rare diseases are poorly understood. This makes it challenging to identify appropriate endpoints for a clinical trial or to develop biomarkers to track disease progression and treatment response.

The high cost of developing treatments for rare diseases can make it difficult for pharmaceutical companies to justify investing in clinical trials, particularly if the patient population is small and the potential market for the treatment is limited.

Recent Progress in Rare Disease Research

A recent report estimates that the global rare disease clinical trials market size was valued at over $11 million in 2022 and is expected to expand at a compound annual growth rate (CAGR) of 9.7% from 2023 to 2030. [4]

Many rare diseases are caused by specific genetic mutations or other underlying molecular mechanisms. Advances in genomics and other technologies are making it easier to identify underlying causes of rare diseases. As a result, there is significant potential for personalized medicine approaches that target these specific mechanisms. Collaboration among researchers, clinicians, regulatory agencies, and patient advocacy groups has also increased in recent years, facilitating the development of rare disease clinical trials. Finally, the U.S. Food and Drug Administration (FDA) and the European Medicines Agency (EMA) have established special pathways and incentives to encourage the development of treatments for rare diseases. These pathways and incentives may include fast-track designation, priority review, and market exclusivity. They are designed to incentivize pharmaceutical companies to invest in rare disease clinical trials.

Capabilities Required to Support Rare Disease Clinical Trials

Progress in personalized medicine and cell and gene therapies is creating new opportunities to develop novel treatments for rare diseases. However, clinical research in these areas still requires flexible and robust technology to support the entire complex clinical trial process.

Because the patient population for rare disease clinical trials is often small, it is crucial to identify and enroll eligible patients quickly. Flexible technology can automate patient screening and identification, reducing the time and resources required to identify potential participants.

Patients with rare diseases often have diverse genetic, clinical, and environmental factors that can influence the course of the disease and the response to treatment. Clinical technology can help support adaptive trial designs that allow for changes in trial endpoints, treatment regimens, or patient inclusion criteria based on emerging data. Many health authorities now recognize the complexity of adaptive design trials and the value they bring to science and medicine.

Patients with rare diseases may be dispersed geographically, making it challenging to monitor patients and collect data. Technology can help enable remote monitoring and data collection, reducing the need for patients to travel to trial sites and improving data quality.

Rare disease clinical trials often involve complex data management, including genomic, imaging, and other biomarker data. Flexible technology can help support collecting, managing, and analyzing these data types, facilitating the efficient evaluation of treatment efficacy.

Rare disease clinical trials often involve collaboration among multiple stakeholders, including patient advocacy groups, academic researchers, clinicians, and pharmaceutical companies. Technology can help support collaboration by providing a centralized data-sharing and communication platform.

As researchers seek new ways to address rare diseases, the technologies and supporting processes they use to collect, manage, and analyze clinical trial data will profoundly impact the speed and efficiency with which they can bring new medicine to patients in need.  Complex and critical rare disease trials demand a powerful unified platform that supports research goals by providing essential flexibility throughout the conduct of the trial.

If your team is preparing to conduct a rare disease clinical research, contact Mednet to learn how iMednet can streamline your clinical trials.

[1] https://www.fda.gov/patients/rare-diseases-fda

[2] https://research-and-innovation.ec.europa.eu/research-area/health/rare-diseases_en

[3] https://ncats.nih.gov/rare-diseases

[4] https://www.grandviewresearch.com/industry-analysis/rare-disease-clinical-trials-market-report