RARE DISEASES AWAITING RENEWED FOCUS

India needs to make significant investments in R&D, policy reforms, and measures to enable affordability and accessibility of medicines and healthcare to manage the burden posed by rare diseases

- USHA SHARMA

The global rare disease drug market is expected to touch $242 billion by 2024 with a Compound annual growth rate (CAGR) of 12.3 per cent between 2019-2024. Globally, the definition of rare disease (RD) is at nascent stage although it is evolving constantly. It is assumed that there are approximately 8,000 different types of RDs, with more being discovered each day. Particularly in India, nearly 450 RDs have been enlisted. Due to its poor diagnosis mechanism, low prevalence and limited treatment options, often it is addressed as an 'orphan' disease.

Rare diseases in India

The Ministry of Health and Family Welfare, Government of India announced that so far only about 450 rare diseases have been recorded in India from tertiary care hospitals. The most common rare diseases include haemophilia, thalassemia, sickle cell anemia, primary immunodeficiency in children, auto-immune diseases, lysosomal storage disorders such as Pompe disease, Hirschsprung disease, Gaucher’s disease, cystic fibrosis, hemangiomas and certain forms of muscular dystrophies.

Dr Prashanth L K, Consultant Movement Disorders Specialist, Vikram Hospital informs, “ According to the definition, a rare movement disorder is one whose prevalence is less than 50 per 100,000 population. India constitutes 1/5th of this global scenario. Many of these disorders require dedicated healthcare services and some of them have dramatic medical care. Because of the rarity of these disorders, most of them are usually misdiagnosed and do not get proper interventions.”