Context: Ministry of Health and Family Welfare approved National Rare Disease Policy , 2021
What are rare diseases?
- Broadly, a ‘rare disease’ is 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.
- While there is no universally accepted definition of rare diseases, WHO defines rare disease as often debilitating lifelong disease or disorder with a prevalence of 1 or less, per 1000 population. However, different countries have their own definitions to suit their specific requirements.
- India does not have a definition of rare diseases because there is a lack of epidemiological data on their incidence and prevalence.
- According to the policy, rare diseases include genetic diseases, rare cancers, infectious tropical diseases, and degenerative diseases.
- As per the policy, out of all rare diseases in the world, less than five per cent have therapies available to treat them.
- In India, roughly 450 rare diseases have been recorded from tertiary hospitals, of which the most common are Haemophilia, Thalassemia, Sickle-cell anemia, auto-immune diseases, Gaucher’s disease, and cystic fibrosis.
The need National Rare Disease policy
- The policy was created on the direction of the Delhi High Court to the Ministry of Health and Family Welfare.
- This was in response to writ petitions for free treatment of such diseases, due to their “prohibitively” high cost of treatment.
- As per the 2017 report, over 50 per cent of new cases are reported in children and these diseases are responsible for 35 per cent of deaths in those below the age of one.
How does it work?
- While the policy has not yet put down a detailed roadmap of how rare diseases will be treated, it has mentioned some measures, which include creating a patient registry for rare diseases, which will be maintained by the Indian Council of Medical Research (ICMR), arriving at a definition for rare diseases that is suited to India, taking legal and other measures to control the prices of their drugs and developing standardised protocols for diagnosis and management of the treatment.
- Under the policy, there are three categories of rare diseases —
- Group 1: Disorders amenable to one-time curative treatment;
- Group 2: Diseases requiring long term / lifelong treatment having relatively lower cost of treatment and benefit has been documented in literature and annual or more frequent surveillance is required; and
- Group 3: Diseases for which definitive treatment is available but challenges are to make optimal patient selection for benefit, very high cost and lifelong therapy.
- Some of the diseases in the first category include Hematopoietic Stem Cell Transplantation (HSCT) and disorders that were amenable to organ transplantation, osteopetrosis and immune deficiency disorders, among others.
Government of India support in the treatment
- Financial support upto Rs. 20 lakh under the Umbrella Scheme of Rashtriya Arogaya Nidhi shall be provided by the Central Government for treatment, of those rare diseases that require a one-time treatment (diseases listed under Group 1).
- Beneficiaries for such financial assistance would not be limited to BPL families, but extended to about 40% of the population, who are eligible as per 23 norms of Pradhan Mantri Jan Arogya Yojana, for their treatment in Government tertiary hospitals only.
- State Governments can consider supporting patients of such rare diseases that can be managed with special diets or hormonal supplements or other relatively low cost interventions (Diseases listed under Group 2).
- Keeping in view the resource constraints, and a compelling need to prioritize the available resources to get maximum health gains for the community/population, the Government will endeavour to create alternate funding mechanism through setting up a digital platform for voluntary individual and corporate donors (crowd-funding) to contribute to the treatment cost of patients of rare diseases.
Challenges in research and development
- A fundamental challenge in research and development for the majority of rare diseases is that there is relatively little known about the pathophysiology or the natural history of these diseases.
- Rare diseases are difficult to research upon as the patient pool is very small and it often results in inadequate clinical experience. Therefore, the clinical explanation of rare diseases may be skewed or partial.
- The challenge becomes even greater as rare diseases are chronic in nature, where long term follow-up is particularly important. As a result, rare diseases lack published data on long-term treatment outcomes and are often incompletely characterised.
Centres of Excellence (COE) and Nidan Kendras
- The Government will notify selected Centres of Excellence, which will be premier Government tertiary hospitals with facilities for diagnosis, prevention and treatment of rare diseases.
- Nidan Kendras have been set up by Department of Biotechnology (DBT) under Unique Methods of Management and treatment of Inherited Disorders (UMMID) project for genetic testing and counseling services.
- These Nidan Kendras will be performing screening, genetic testing and counseling for rare diseases.
- Nidan Kendras possessing the facility for treatment may do so under the guidance and supervision of a CoE.
- Note: Public Health and Hospitals is primarily a State subject.
Lysosomal Storage Disorders
- Lysosomal storage diseases are inherited metabolic diseases that are characterized by an abnormal build-up of various toxic materials in the body’s cells as a result of enzyme deficiencies.
- There are nearly 50 of these disorders altogether, and they may affect different parts of the body, including the skeleton, brain, skin, heart, and central nervous system.
- New lysosomal storage disorders continue to be identified.
- While clinical trials are in progress on possible treatments for some of these diseases, there is currently no approved treatment for many lysosomal storage diseases.
Signs & Symptoms
- Although the signs and symptoms vary from disease to disease in this group, symptoms occur in each case because of an enzyme deficiency that inhibits the ability of the lysosomes present in each of the body’s cells to perform their normal function.
- The lysosomes function as the primary digestive units within cells.
- Their function is to break down complex components into simpler ones.
- Each cell has hundreds of lysosomes that degrade complex cellular components such as proteins (substrates) into simpler components.
- When this process does not take place, the substrate begins to accumulate in the cells. That is why these diseases are called “storage diseases”.
- The symptoms of lysosomal storage disorders are generally progressive over a period of time.
- Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent.
- If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms.
- The risk is the same for males and females.
- All individuals carry four or five abnormal genes. Parents who are close relatives (consanguineous) have a higher chance than unrelated parents to both carry the same abnormal gene, which increases the risk to have children with a recessive genetic disorder.
- Although most lysosomal storage disorders follow an autosomal recessive inheritance pattern, there are exceptions.
- To have an autosomal recessive disorder, you inherit two mutated genes, one from each parent.