Rare Disease Management- An introspection into the current scenario Dr. Deepti Madayi Department of Biotechnology, University of Kerala- 673635 RECENT ADVANCES
Abstract •
Background- A disease that is life threatening or chronically debilitating possessing a prevalence of less than 100 patients per 100,000 population is described as a Rare/Orphan disease. Globally it is estimated that there are around 6,000-8,000 rare diseases. Rare diseases can arise due to genetic defects, degenerative disorders or in other cases certain rare cancers. Rationale- Due to insufficient information regarding the clinical manifestations of the disease, diagnosis is often delayed resulting in serious complications. Hence this study aims to discuss the pitfalls of rare disease management with an emphasis on creating an elaborate and effective repository/database which would create awareness among clinicians, patients and researchers ultimately expediating the treatment/prognosis. Strategy-Rare disease management demands the development of a database on rare diseases/disorders with region/state specific data. There is an urgent need to develop a patient registry as well as a biospecimen repository to accelerate the ongoing research. Result-The study describes an effective Rare Disease Analytics Platform (RDAP) which would offer an open repository not just in terms of data collection but also data analytics to assist the health care and policy makers devise a platform for tackling the paucity of information and promote awareness in the society. Conclusion-Due to the heterogeneity of the disease, it is very essential to identify the current pitfalls in the rare disease management scenario and we need to strive towards creating a team of clinicians, researchers, healthcare professionals, patients, IT specialists as wells as policy makers for developing a framework for proper implementation and disease management.
OBJECTIVES • • • •
Development of RDAP would greatly aid in managing the shortcomings of Rare disease diagnosis and treatment Promising molecules/therapies ➢ Small molecules ➢ Protein replacement ➢ Oligonucleotide therapy ➢ Antibody ➢ Cell and Gene therapy • Personalized health analytics for rare disease management
CURRENT SCENARIO
METHODOLOGY
Development of a Rare disease Analytics platform (RDAP) Conversion of a rare disease research to a drug discovery platform Development of a biorepository aiding researchers Create awareness in the society and tackle the stigma associated with rare disease/deformities
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THE PROBLEM
450 rare diseases reported in India Haemophilia, Thalassemia, Sickle cell Anaemia, Primary Immunodeficiency in children, Autoimmune diseases, Lysosomal storage disorders Lack of timely diagnosis Cost estimate & treatment Long term care & rehabilitation needed
CONCLUSION • Focus on multiple diseases using combinatorial therapy • Use of a Fast track approach to expediate the drug development • Creating a social platform for awareness among people • ‘Rare’ Diseases aren’t that Rare and they need to be tackled in a scientific manner and with a collaborative approach of the government and regulatory agencies.
REFERENCES • Tambuyzer, Erik, et al. "Therapies for rare diseases: therapeutic modalities, progress and challenges ahead." Nature Reviews Drug Discovery (2019): 1-19. • García Fernández, José M., and Carmen Ortiz Mellet. "Novel therapies for orphan diseases." (2019): 1020-1023. • Adarsh, A. "India Rare Disease Initiatives–A Review Adarsh A, Deepa Bhat and Raghu Nataraj." (2020).
ACKNOWLEDGEMENT Department of Biotechnology, University of Calicut
PROPOSED MODEL/RESULT
Patient level data collected
Consolidation of data from various sources to form an integrated platform
Integrated data for analysis
Drug development & Clinical trials