RARE DISEASE IN INDIA AND NATIONAL POLICY FOR TREATMENT OF RARE DISEASES 2021
RARE DISEASE ‘Rare Disease’ is broadly defined as a health condition of low prevalence that affects a small number of people when compared with other prevalent diseases in the general population, but there is no universal definition. Many cases of rare diseases may be serious, chronic and life-threatening. There are 6,000-8,000 classified rare diseases, but less than 5% have therapies available to treat them. Example: Lysosomal Storage Disorders (LSD), Pompe disease, cystic fibrosis, muscular dystrophy, spina bifida, haemophilia etc. About 95% rare diseases have no approved treatment and less than 1 in 10 patients receive disease-specific treatment. Three elements to the definition as used in various countries are: The total number of people having the disease Its prevalence Non-availability of treatment for the disorder A formal definition helps a nation to identify such diseases that require financial support for the discovery and development of drugs. This in tur