Rare Diseases in India | 09 Dec 2019
Why in News
Recently, it was reported that the application of the majority of patients suffering from Lysosomal Storage Disorders (a rare disease) has been pending with the Union Ministry of Health and Family Welfare for several months.
- There are more than 2,000 children infected with rare diseases across the country. Many of them require Enzyme Replacement Therapy (ERT).
- ERT is a medical treatment which replaces an enzyme that is deficient or absent in the body.
- There is also a demand for the reformulation of National Policy for Treatment of Rare Diseases, 2017.
Lysosomal Storage Disorders
- Lysosomal storage disorder is an inherited metabolic disease that is characterized by an abnormal build-up of various toxic materials in the body's cells as a result of enzyme deficiencies.
- It may affect different parts of the body, including the skeleton, brain, skin, heart, and central nervous system.
- There is currently no approved treatment for many lysosomal storage diseases.
Rare Diseases
- A rare disease is a health condition of low prevalence that affects a small number of people compared with other prevalent diseases in the general population.
- There is no universally accepted definition of rare diseases and the definitions usually vary across different countries.
- Though rare diseases are of low prevalence and individually rare, collectively they affect a considerable proportion of the population.
- 80% of rare diseases are genetic in origin and hence disproportionately impact children.
- In India there are 56-72 million people affected by rare diseases.
National Policy for Treatment of Rare Diseases, 2017
- The policy highlights the measures and steps, both in the short as well as in the long term, that need to be taken to deal comprehensively with rare diseases.
- The policy intends to constitute an Inter-ministerial Consultative Committee to coordinate and steer the initiatives of different ministries and departments on rare diseases.
- It also mentions for the creation of a corpus fund at Central and State level for funding treatment of rare diseases.
- The policy aims to create a patient registry for diseases housed in Indian Council of Medical Research (ICMR).
- However, recognizing the higher cost of treatment for rare diseases, the policy also seeks to strike a balance between access to treatment with health system sustainability.
- It also aims to create awareness among health professionals, families of patients and the public in general, about rare diseases.