Rare diseases are conditions that affect a small number of individuals worldwide, most of which are genetically based. Individuals living with these diseases often face limited treatment options. It is estimated that there are approximately 7,000 rare diseases globally, yet only about 5% of them currently have an available treatment. In countries like Türkiye, where genetic diversity is high and the rate of consanguineous marriages is significant, local clinical research focused on rare diseases presents major opportunities for the healthcare system. Such research can contribute both to the development of better treatments and to more effective healthcare planning. However, this process is fraught with significant challenges. This article will explore the challenges and opportunities of conducting local clinical research in rare diseases and examine the critical importance such research holds for Türkiye.
Conducting clinical research in rare diseases is more complex and challenging compared to common diseases.
Challenges of Clinical Research in Rare Diseases
Conducting clinical research in rare diseases is significantly more complex and challenging compared to more common conditions. These challenges include:
Insufficient Number of Volunteers:
Due to the limited patient population, recruiting an adequate number of participants for clinical trials in rare diseases is difficult. When combined with genotypic and phenotypic variability, the small number of volunteers often results in heterogeneous patient groups. This lack of homogeneity can affect the reliability and validity of trial outcomes.
Short Follow-Up Periods:
Long-term monitoring is crucial in rare disease studies. While these conditions typically require extended observation to accurately assess treatment outcomes, clinical trials often operate within limited follow-up periods. Short-term monitoring can hinder the ability to evaluate the long-term effectiveness and safety of treatments.
Genotype–Phenotype Mismatch:
Genetic differences are often more pronounced in the context of rare diseases. Variability between a patient’s genotype and their phenotypic presentation can significantly influence treatment responses and clinical outcomes. These inconsistencies make it difficult to generalize research findings across broader patient populations.
Importance of Early Access to Treatment:
Early diagnosis and intervention are critical for slowing disease progression and improving quality of life in rare diseases. While participation in clinical trials may facilitate earlier access to experimental treatments, the inclusion of patients who have previously received different therapies can complicate the interpretation of trial results.
High Costs and Lack of Awareness:
Clinical research in rare diseases typically requires significant financial investment. Limited funding, coupled with low public and institutional awareness, presents a major barrier to conducting such studies. Additionally, the general lack of knowledge about rare diseases can make it more difficult to recruit participants and generate support for research initiatives.
Local clinical research conducted in Türkiye can contribute to a better understanding of rare diseases and support the development of new treatment methods. The country’s large patient population allows for the collection of more extensive data in such studies.
The Importance of Local Clinical Research in Türkiye
Türkiye has a large patient population affected by rare diseases and holds a strategic position for local clinical research due to its genetic diversity. According to reports by the Turkish Institute of Public Health and Chronic Diseases, there is a need for a comprehensive research infrastructure for rare diseases in Türkiye. Local clinical research conducted in Türkiye can contribute both to a better understanding of rare diseases and to the development of new treatment methods. The country’s large patient population allows for the collection of more extensive data in such studies.
The Importance of Clinical Research Data in Healthcare Planning
Clinical research data obtained in the field of rare diseases is highly important for the planning and development of healthcare services. The data derived from these studies in Türkiye can help determine public health strategies and serve as a critical foundation for the drug licensing process. Evidence-based data can be used in the development of rare disease programs by the Ministry of Health and in shaping national health policies.
Supporting Clinical Research and Infrastructure Needs
It is essential to support clinical research in rare diseases and to strengthen the infrastructure in this field in Türkiye. Supporting centers that comply with Good Clinical Practice (GCP) is critical for obtaining high-quality results in such studies. Personnel working in these centers should be made competent in the field of rare diseases, and employment support should be provided. Additionally, improving supervision mechanisms and the infrastructure of these centers will contribute to the success of clinical research.
Local clinical research offers significant opportunities for the development of new drugs and the standardization of treatment processes. These studies can help improve patients’ quality of life and enable faster recovery.
Promotion of Clinical Research and Collaborations
Promoting local clinical research to a wider audience can increase volunteer participation and strengthen international collaborations. Announcing clinical studies through health research portals and relevant platforms can create more opportunities for collaboration among researchers. Particularly in drug repurposing studies, where a drug previously approved for another indication is targeted for a different rare disease, such announcements can save time and reduce costs.
The Importance of Registry-Based Studies in Rare Diseases
Registry-based studies in the field of rare diseases can provide highly valuable data. Population-based studies, in particular, offer critical information about the prevalence and epidemiological characteristics of rare diseases. Increasing such records in Türkiye can support the development of national health policies and strengthen epidemiological data.
The Contribution of Clinical Research to Licensing Processes
Local clinical research in rare diseases directly contributes to the drug licensing process. The data obtained from these studies can provide more information on the efficacy and safety of drugs, thereby accelerating licensing procedures. These studies also enable the faster approval of new treatment methods.
Local clinical research in rare diseases plays a critical role in ensuring early access to treatment and strengthening national health policies. With its broad genetic diversity and large patient population, Türkiye holds a strategic advantage for conducting such research.
Challenges in Securing Funding for Clinical Research
One of the major obstacles in conducting clinical research on rare diseases is the lack of adequate funding. These studies are highly costly, and maintaining their sustainability is difficult without sufficient financial support. In Türkiye, research in this field needs to be supported by both national and international funding sources. Investments from the private sector can also contribute to accelerating the progress of clinical trials.
The Need for Treatment and Care Standardization and New Drug Development
In rare diseases, the standardization of treatment and care processes is often unclear. Since each patient may present a different clinical picture, optimizing treatment methods is challenging. Local clinical research presents important opportunities for the development of new drugs and the standardization of treatment procedures. These studies can contribute to improving patients’ quality of life and enabling faster recovery.
Conclusion
Local clinical research in rare diseases offers great potential in countries like Türkiye, where genetic diversity is high and the rate of consanguineous marriage is significant. These studies play a critical role in ensuring early access to treatment and strengthening national health policies. Türkiye, with its wide genetic diversity and large patient population, holds a strategic advantage for such research. However, in order to be successful, it is essential to strengthen infrastructure, raise awareness, and secure adequate funding. The data obtained from clinical research may create opportunities for Türkiye to develop international collaborations in this field and take on a leading role in the treatment of rare diseases.
References
- Ministry of Health, Türkiye Institute of Public Health and Chronic Diseases. Rare Diseases Report (2021).
- IQVIA Türkiye Report (2020).
- Benefits of a Clinical Research Strategy for Türkiye (2020).
- Ministry of Health. Clinical Research Guidelines.
- World Health Organization (WHO). Rare Diseases and Orphan Drugs: Challenges and Opportunities.