The government will provide financial support of up to Rs 15 lakh under its Rashtriya Arogya Nidhi scheme for one-time treatment of rare diseases, according to the much-awaited draft Rare Diseases Policy.

Under the draft policy, which was released on January 13, beneficiaries would not be limited to Below Poverty Line (BPL) families, but will also cover 40 per cent of the population eligible as per norms of the Ayushman Bharat-Pradhan Mantri Jan Arogya Yojana for their treatment in government tertiary hospitals only.

What are rare diseases?

There is no universal or standard definition of a rare disease. A disease that occurs infrequently is generally considered a rare disease, and it has been defined by different countries in terms of prevalence - either in absolute terms or in terms of prevalence per 10,000 population.

The WHO defines a rare disease as often debilitating lifelong disease or disorder condition with a prevalence of 1 or less, per 1,000 population.

A country defines a rare disease most appropriate in the context of its own population, health care system and resources.

Early diagnosis of rare diseases is a challenge owing to multiple factors that include lack of awareness among primary care physicians, lack of adequate screening and diagnostic facilities, etc.

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.

Availability and access to medicines are important to reduce morbidity and mortality associated with rare diseases.

As the number of persons suffering from individual rare diseases is small, they do not constitute a significant market for drug manufacturers to develop and bring to market drugs for them.

For this reason, rare diseases are also called ‘orphan diseases’ and drugs to treat them are called ‘orphan drugs’. Where, they do make drugs to treat rare diseases, the prices are extremely high apparently to recoup the cost of research and development.

What is the scenario in India?

About 450 diseases have been recorded in India from tertiary care hospitals that are globally considered as rare diseases.

The most commonly reported diseases include Haemophilia, Thalassemia, Sickle-cell Anaemia and 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.

Rare diseases are severe and chronic illnesses and often life-threatening. Patients suffering from rare diseases, especially Lysosomal Storage Disorders (LSDs), often lead a very incapacitating life. There are about 50 LSDs out of which only five have approved treatment options available in India.

What are the challenges in India?

India faces the limitation of lack of epidemiological data to be able to define rare diseases in terms of prevalence or prevalence rate, which has been used by other countries.

To overcome this, a National Registry for Rare Diseases has been initiated by the ICMR by involving centres across the country that are involved in diagnosis and management of rare diseases. This will yield much-needed epidemiological data for arriving at a prevalence based definition of rare diseases.

When was the policy formulated?

The health ministry had formulated a National Policy for Treatment of Rare Diseases (NPTRD) in July 2017.

The implementation of the policy was, however, faced with certain challenges. A limiting factor in its implementation was bringing states on board and lack of clarity on how much government could support in terms of tertiary care.

When the policy was shared with state governments, issues such as cost effectiveness of interventions for rare disease, the sharing of expenditure between central and state governments, flexibility to state governments to accept the policy or change it according to their situation, were raised.

The policy had implementation challenges and gaps, including the issue of cost effectiveness of supporting such health interventions for resources limited situation, which made it not  feasible to implement.

Given the challenges in implementing the policy, a decision was taken to reframe the NPTRD and an expert committee was constituted by the health ministry in November 2018 to review it.

Pending reframing the policy, the earlier policy has been kept in abeyance till the revised policy is issued or till further orders, whichever is earlier, the draft document states.

What are the highlights of the policy?

The health ministry intends to notify certain medical institutes as Centres of Excellence for Rare Diseases. These include AIIMS, New Delhi; Maulana Azad Medical College, New Delhi; Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow and Post Graduate Institute of Medical Education and Research, Chandigarh.

“The cost of treatment of patient in these centres of excellence will be met out of donations received through the online digital platform,” according to the draft policy.

Rare diseases categorised under Group 1, such as Lysosomal Storage Disorders (LSDs), immune deficiency disorders, chronic granulomatous disease, osteopetrosis, Fabry’s disease and liver or kidney transplant, will be funded under the scheme.

The policy cited “resource constraints” to provide financial assistance to rare diseases like Gaucher’s disease, Spinal Muscular Atrophy, Hurler Syndrome and Wolman disease that require lifelong treatment.

“The government will endeavour to create alternative funding mechanism through setting up a digital platform for voluntary individual and corporate donors to contribute to the cost of treatment for patients of rare diseases,” the draft said.

Holding that rare diseases place a major economic burden on any country and especially in resource-constrained settings, the draft policy states that at present very few pharmaceutical companies are manufacturing drugs for rare diseases globally and there are no domestic manufacturers in India.

Due to high cost, the government has not been able to provide these drugs for free. It is estimated that for a child weighing 10 kg, the annual cost of treatment for some rare diseases may vary from Rs 10 lakh to more than Rs 1 crore per year, with drug dose and cost increasing with age.

Manorama Yearbook app is now available on Google Play Store and iOS App Store