By: ABRS- Academic Team
Introduction
Being diagnosed with a rare disease often entails uncertainty and challenges, both physically and emotionally, for the patients who suffer from it.
According to Nguengang Wakap et al. (2020), the Council of Ministers of the European Union has indicated that approximately 6 to 8% of the European population could experience a rare disease at some point in their lives.
Similarly, as described in the European Union Regulation on Orphan Medicinal Products (1999), rare diseases are defined as conditions with a prevalence of no more than 50 per 100,000 inhabitants in the EU. Keeping this in mind, the purpose of this article is to highlight the importance of clinical studies in the development of medications, therapies, or devices that benefit patients affected by rare diseases, as well as the opportunities that these diseases offer to companies wishing to venture into this specific field of medicine.
Fostering Collaboration and Innovation through Shared Knowledge: The Role of the Undiagnosed Diseases Network (UDN)
The importance of sharing knowledge lies in collaboration and the exchange of information, which can lead to innovative solutions and significant advances in the field of medicine. The Undiagnosed Diseases Network (UDN) is a prominent example of this collaboration. The UDN is a research network that brings together seven clinical sites, two DNA sequencing cores, a metabolomics core, a model-organism screening center, a central biorepository, and a coordinating center. These resources are interconnected through the UDN Portal, facilitating collaboration among researchers, physicians, and patients. It is essential to note that patients or their referring physicians initiate the UDN application process through the online portal developed and maintained by the coordinating center. When the application is submitted online, it is directed to a clinical site, typically the one closest geographically (Ramoni et al., 2017). This enables the UDN to focus on addressing rare and undiagnosed diseases that challenge conventional diagnosis, providing a multidisciplinary and coordinated approach to identifying and understanding these uncommon conditions. By sharing data, knowledge, and resources, the UDN fosters innovation and promotes the search for effective solutions to improve the health and quality of life of patients affected by these diseases.
Being able to access information about the types of diseases being presented and the locations where subjects can receive qualified care also encourages clinical sites to follow standardized protocols for phenotyping and specimen collection to facilitate later comparisons.
As explained by Ramoni et al. (2017), samples are collected, including plasma, serum, peripheral blood mononuclear cells, DNA, urine, and sometimes skin biopsies, and stored both at the local clinical site and in a central repository to facilitate backup, access, and specimen sharing.
Collecting and sharing this information across the network allows researchers to have firsthand data to understand the disease characteristics, their effects on diverse populations, and the measures being implemented by physicians for their treatment.
The use of high-quality data and information is vital for advancing the treatment of rare diseases. In order to ensure the reuse of datasets, both clinical teams and clinical research teams should focus on creating detailed metadata. This metadata includes information about data acquisition modes, authorship details, and timestamps (Solebo, Hysi, Horvat-Gitsels, & Rahi, 2023). This practice ensures the data’s integrity and usefulness, facilitating their access and utilization by other researchers. Moreover, the inclusion of robust metadata promotes transparency and reproducibility in clinical research.
The Importance of Clinical Studies in the Treatment of Rare Diseases
Sciascia et al. (2023) highlighted a troubling reality: individuals and families grappling with rare diseases often endure over five years navigating a diagnostic odyssey filled with specialist visits and invasive, protracted, and frequently futile tests.
This extended quest for diagnosis not only imposes significant emotional and financial burdens on patients and their families but also results in delays in initiating appropriate treatment. Clinical studies investigating rare diseases play a pivotal role in mitigating this period of uncertainty by providing a platform to better understand the pathophysiology, natural history, and treatment options for these uncommon conditions. Furthermore, these clinical studies facilitate the assessment of the efficacy and safety of potential new therapies, as well as the identification of biomarkers that can enhance the detection and monitoring of these diseases. By collaborating with patients, families, researchers, and healthcare professionals, clinical studies in rare diseases can generate crucial evidence that informs health policies, guides clinical practice, and ultimately enhances the quality of life for those living with these challenging conditions.
The analysis conducted by Sciascia et al. (2023) sheds light on a compelling correlation: countries with higher incomes tend to exhibit greater interest and investment in researching rare and uncommon diseases.
Undoubtedly, this underscores the importance of economic resources in driving scientific exploration and innovation in the medical field. However, while such investment from affluent nations is crucial, it is equally imperative for the pharmaceutical industry to undertake studies aimed at advancing research in this domain.
With its vast resources and expertise, the pharmaceutical industry plays a pivotal role in driving medical research forward. Its involvement in conducting clinical trials, developing novel therapies, and exploring innovative treatment approaches can significantly contribute to the advancement of knowledge and the development of effective treatments for rare diseases. Moreover, collaboration between pharmaceutical companies and academic institutions can foster synergies and accelerate progress in understanding the underlying mechanisms of rare diseases and developing targeted interventions.
Essentially, the investment of high-income countries in rare disease research is a reason for recognition and applause from the scientific and medical community. However, this effort cannot rely solely on governments and public institutions; active participation from the pharmaceutical industry is crucial to adequately address the challenges associated with these uncommon conditions. Collaboration among different actors in the medical and scientific fields is essential to drive significant advancements in understanding, diagnosing, and treating rare diseases.
According to the study conducted by Pizzamiglio et al. (2022), it is anticipated that sales of orphan drugs will increase from $119 to $217 billion by the year 2024, alongside a projected increase in clinical trials.
This forecast reflects the growing interest and investment in developing therapies for rare diseases, as well as the increasing demand for effective treatment options from patients and the medical community. This rise in sales also suggests a parallel increase in clinical trials, indicating greater activity and dedication in the research and development of drugs for rare diseases.
As we move forward, it is essential for the pharmaceutical industry to remain committed to researching and developing innovative therapies to address the unmet needs of patients with rare diseases. Collaboration among pharmaceutical companies, academic institutions, and patient organizations can further enhance these efforts, enabling a better understanding of rare diseases and the development of more effective and accessible treatments for those in need.
References
Nguengang Wakap, S., Lambert, D. M., Olry, A., Rodwell, C., Gueydan, C., Lanneau, V., … & Rath, A. (2020). Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. European Journal of Human Genetics, 28(2), 165-173.
Pizzamiglio, C., Vernon, H. J., Hanna, M. G., & Pitceathly, R. D. (2022). Designing clinical trials for rare diseases: unique challenges and opportunities. Nature Reviews Methods Primers, 2(1), 13.
Ramoni, R. B., Mulvihill, J. J., Adams, D. R., Allard, P., Ashley, E. A., Bernstein, J. A., … & Stong, N. (2017). The undiagnosed diseases network: accelerating discovery about health and disease. The American Journal of Human Genetics, 100(2), 185-192.
Sciascia, S., Roccatello, D., Salvatore, M., Carta, C., Cellai, L. L., Ferrari, G., … & Taruscio, D. (2023). Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators. Frontiers in Public Health, 11, 1248260.
Solebo, A. L., Hysi, P., Horvat-Gitsels, L. A., & Rahi, J. S. (2023). Data saves lives: optimizing routinely collected clinical data for rare disease research—Orphanet Journal of Rare Diseases, 18(1), 285.