RESEARCH ARTICLE RARE DISEASE REGISTRIES- PURPOSE, CHALLENGES & SOLUTIONS

Rare diseases are defined, as any condition or disease having a low prevalence in the United States and the European Union. There is a scarcity of relevant knowledge and experience with rare diseases due to an incomplete understanding of the underlying disease mechanisms, relevant clinical endpoints, lack of correct diagnosis in the population. These challenges create a unique need for cooperation and infrastructure. Data registry is a critical tool in building a comprehensive knowledge base for these rare diseases. Our paper will provide the overview of patient registries for rare diseases, current use, limitations, challenges and proposed plan for improvement.


ISSN: 2320-5407
Int. J. Adv. Res. 9(01), 1074-1078 1075 For a better understanding of the disease mechanisms, it is essential to identify more patients. Increase in sample size increases the power of the study. Rare diseases have broader scope and objectives as compared to typical disease registry due to significant knowledge gaps. The absence of treatment guidelines in rare diseases, more use of adjuvant therapies, lack of understanding of these conditions, lack of available biomarkers provide opportunities for more research. Novel approaches are required to both define rare diseases and their treatment guidelines. Rare disease registries in contrast to traditional disease registries are less well-known diseases, and hence for, the advocacy and support groups are smaller, and their roles are also different (Barr et al., 2015).
Our paper will provide the overview of patient registries for rare diseases, current use, limitations, challenges and proposed plan for improvement.

Rare Disease Registry Objectives and Scope:-
In rare diseases we have limited patient population due to the low prevalence of these diseases; therefore clear research agenda does not exist, standard treatment guidelines are missing. Patient registries for rare diseases are an intuitive first step to understand the geographical distribution, basic demographics and clinical characteristics of the disease. The scope of these registries may evolve from a means for a better understanding of the disease characteristics to a mechanism for research funding and initiatives to attract more stakeholders. Ideally, a welldesigned registry provides a database that supports the needs of the stakeholders efficiently and eliminates barriers to scientific progress (Bartek et  .

To support research:
The registries also support basic and clinical research. Clinical research helps in understanding complications and specific disease outcomes of the disease. These complications include autoimmune complications, unusual infections, and malignancies. The comprehensive database helps to address critical clinical questions for the benefit of the patients. Registries maintain a centralized biorepository that can serve as a research source for understanding diseases at genetic, molecular and cellular level. The existing parallel clinical data in the registry allows for the assessment of genetic and environmental disease modifiers We suggest a plan that will undoubtedly address this challenge. Ongoing, international, longitudinal disease registry, open to voluntary participation by patients, physicians and researchers should be established. Every piece of data including patient demographics, clinical manifestation, treatment regimens, laboratory panels, radiological findings, quality of life outcome measures should be entered and analyzed to address the current challenges of the rare disease. Reliable, comprehensive registry will serve as an educational resource not only for care providers but also for patients. Integrity and objectivity of the data will help physician-investigators worldwide in designing the medical and scientific agendas of the registry. With the growth of the registry and the availability of data on rare diseases interest in unique patient population and specific aspects of the disease will continually emerge; as a result research initiatives can be launched continuously. The collective clinical experience of the registry at international level will lead to the development of recommendations for evaluation and monitoring of the disease (Bartek et al., 1077 2011). These registries will also help in creating disease awareness amongst patients, families, and communities at the global level (Bartek et al., 2011).
Further, we suggest changing the technology platform to simplify data entry to maintain data completeness and accuracy and ease data access for patients and physicians. Registries should allow data download to support research at every level. We also propose the application of research tools in the registry database for analysis of existing data to plan management regimens further. These technological tools will help in addressing clinical and scientific questions and will assist in designing useful disease management tools. Our plan will assist in establishing a larger, better-connected worldwide community of physicians and patients who can share information globally and improve best practices and build awareness of rare diseases to optimize patient outcomes. A global registry with the comprehensive patient database will serve as a resource of study subjects for focused investigation on rare diseases (Ayme et al., 2012). Our proposed plan will help the sponsors to identify academic and professional interest in the registry findings and will support in engaging investigators in the study. These sponsor initiatives will assist in building an active approach to disease management practices. Our plan also proposes site engagement in rare disease registries, because of the limited number of patients. These recommended steps will build networking at a global level that can bolster investigator's motivation. Global multidisciplinary cooperation for rare disease registries in a more efficient way will serve the needs of stakeholders. Technological advances, means of integrating data sources, will generate a more streamlined process for data providers and analysts. The growth of web-based communities and social media will increasingly help in registry data collection as community building across geographical boundaries continues to become more straightforward (