The need for a comprehensive regulatory framework for rare diseases in India
In India, the Central Drugs Standard Control Organisation (CDSCO) defines a rare disease (RD) as a disease affecting less than 500,000. Patients with rare diseases in India encounter many hurdles to obtaining satisfactory care: there is significant delay to diagnosis, a lack of adequate care facilities and a lack of treatment options. Treatments are expensive when available, for many reasons apart from the fact that they are imported.
In India, as an example, the cost to treat Fabry’s disease is estimated to be around US$ 310,000 annually, while the treatment of spinal muscular atrophy (SMA) is around US$ 375,000. Between 72 and 96 million of Indians live with a RD, and 450 RDs have been identified in the patient population so far. The authors propose a number of actions necessary to improve the lives of people living with a RD in India. These include a better epidemiological knowledge of rare diseases in India and the definition of a national policy framework including measures for scientific innovation, research, production of drugs, and to promote the involvement of patients. The authors also call for sustainable regulatory mechanisms to improve the accessibility of diagnosis and treatments, to avoid additional economic and social burden for RD patients. The authors call for India to prioritise rare diseases, and for all actors to concert efforts.
