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It is binding on a welfare state to take care of every single citizen. Securing the wellbeing of every one, particularly those unable to help themselves, irrespective of whether they constitute a critical mass or not, is important. The recent notification of the National Policy for Rare Diseases 2021 after various interventions, including the court, is pegged on this principle of inclusion.

WHO defines rare disease as having a frequency of less than 6.5-10 per 10,000 people. As per an estimate, there are 7,000 known rare diseases with an estimated 300 million patients in the world; 70 million are in India.

Rare Diseases: Issues & Challenges

The field of rare diseases is complex and heterogeneous. The landscape of rare diseases is constantly changing, as there are new rare diseases and conditions being identified and reported regularly in medical literature. Apart from a few rare diseases, where significant progress has been made, the field is still at a nascent stage. For a long time, doctors, researchers and policy makers were unaware of rare diseases and until very recently there was no real research or public health policy concerning issues related to the field. This poses formidable challenges in development of a comprehensive policy on rare diseases. Nevertheless, it is important to take steps, in the short as well as long term, with the objective of tackling rare diseases in a holistic and comprehensive manner.

The varying definitions 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 and in context of their own population, health care system and resources. In the US, rare diseases are defined as a disease or condition that affects fewer than 200,000 patients in the country (6.4 in 10,000 people). EU defines rare diseases as a life-threatening or chronically debilitating condition affecting no more than 5 in 10,000 people. Japan identifies rare diseases as diseases with fewer than 50,000 prevalent cases (0.04%) in the country.

The average prevalence thresholds used to define rare diseases ranges among different jurisdictions from 1 to 6 cases/10,000 people, with WHO recommending a prevalence less than 10/10,000 population for defining 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.

Unavailability of treatment

Availability and access to medicines are important to reduce morbidity and mortality associated with rare diseases. Despite progress in recent years, effective or safe treatment is not available for most of the rare diseases. Hence, even when a correct diagnosis is made, there may not be an available therapy to treat the rare disease. There are between 7000 – 8000 rare diseases, but less than 5% have therapies available to treat them. About 95% rare diseases have no approved treatment and less than 1 in 10 patients receive disease specific treatment. Where drugs are available, they are prohibitively expensive, placing immense strain on resources.

Prohibitive cost of treatment

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.

At present, very few pharmaceutical companies are manufacturing drugs for rare diseases globally and there are no domestic manufacturers in India except for Food for Special Medical Purposes(FSMP) for small molecule inborn errors of metabolism.

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

The Indian Scenario

Data on how many people suffer from different diseases that are considered rare globally, is lacking in India. The cases identified so far have been diagnosed at tertiary hospitals. The lack of epidemiological data on incidence and prevalence of rare diseases impedes understanding of the extent of the burden of rare diseases and development of a definition. It also hampers efforts to arrive at correct estimation of the number of persons suffering from these diseases and describe their associated morbidity and mortality. In such a scenario, the economic burden of most rare diseases is unknown and cannot be adequately estimated from the existing data sets.

The commonly reported diseases include Primary immunodeficiency disorders, Lysosomal storage disorders (Gaucher’s disease, Mucopolysaccharidoses, Pompe disease, fabry disease etc.) small molecule inborn errors of metabolism (Maple Syrup urine disease, organic acidemias etc.), Cystic Fibrosis, osteogenesis imperfecta, certain forms of muscular dystrophies and spinal muscular atrophy, etc.

Way Forward

A good start, it offers financial support for one-time treatment of up to ₹20 lakh, introduces a crowdfunding mechanism, creates a registry of rare diseases, and provides for early detection.

Rare diseases are broadly defined as diseases that infrequently occur in a population, and three markers are used — the total number of people with the disease, its prevalence, and the availability/non-availability of treatment options.

According to the Organization for Rare Diseases India, these include inherited cancers, autoimmune disorders, congenital malformations, Hirschsprung’s disease, Gaucher disease, cystic fibrosis, muscular dystrophies and Lysosomal Storage Disorders (LSDs).

Much of the effort in the sector, from the medical side, has been to evolve formal definitions, in the hope that it would support the development of and commercialisation of drugs for treatment, and improve funding for research on rare diseases.Patient support groups have worked towards drumming up funding assistance for the treatment — one time or continual.

As per the Policy, diseases such as LSD for which definitive treatment is available, but costs are prohibitive, have been categorised as Group 3. However, no funding has been allocated for the immediate and lifelong treatment needs, for therapies already approved by the Drugs Controller General of India.

Experts point out that the costs to help already-diagnosed patients might be in the range of ₹80-₹100 crore annually.

If the Centre can extend the cost-sharing agreements that it has worked out with Kerala, Tamil Nadu and Karnataka, with other States too, its share of the annual costs will be halved. The Centre can, however, still set aside a substantial corpus to fund life-saving treatments, even as it rolls out the policy. Doing so will not only complete a job well begun — even if not yet half done — but also cement its commitment towards the welfare of every single citizen in India.


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