Why rare diseases in India require robust government support to save patients’ lives


Rare diseases affect only a small percentage of the populace in India or worldwide. The WHO definition uses the prevalence threshold as do most other countries, including India. This denotes a disease affecting less than one in 2500 individuals. Rare diseases (RDs) are serious, chronic, debilitating and, at times, life-threatening, requiring long-term, specialized treatment and sometimes causing severe disabilities.

However, the health expenditure incurred on RDs remains so high, it would eventually impoverish the families of affected persons. For example, Lysosomal Storage Disorders (LSDs) are one such lifelong disease, needing a therapeutic approach to management. Classified as a Group 3(a) rare disease, the only treatment available for LSDs in India is via Enzyme Replacement Therapy (ERT). Through timely ERT, patients have been known to lead near-normal lives. Group 3(a) diseases like Pompe, Gaucher, MPS I and Fabry, have been classified in the recently notified National Policy for Rare Diseases, based on the literature having sufficient evidence for good long-term outcomes.

Orphan Drugs and Diseases

Also termed ‘orphan diseases’ globally, the market size for these genetic aliments is not large enough for pharmaceutical companies to develop treatments. Consequently, few companies venture into producing rare disease medicines, receiving largely promotional stimulus from governments to market such therapies. LSDs and other rare disease drugs fall under the ‘Orphan Drug’ category – those meant to treat a condition that affects not more than five lakh people. Therefore, to incentivise and discover treatments for RDs, the government must foster economically advantageous conditions for producing and selling such therapies.

Most RDs being genetic, these remain present throughout the lives of patients, even when symptoms don’t manifest immediately. Many RDs appear early in life and around 30% of children with RDs will die before reaching their fifth birthday.

One of the main concerns with rare diseases (or orphan indications) is that treatment options are not only expensive but recurring. Although more than 450 RDs have been identified in India, less than 50% are treatable. For instance, DCGI-approved treatment is currently available for only about 12-15 of these, including LSDs such as Gaucher disease, Pompe disease, MPS I and Fabry disease.

While the non-treatable diseases may be supported through palliative measures, a fact in line with global findings is that availability of or access to treatment does not inflate the percentage of patients undergoing treatment by any large number.

The immediate need is at least prioritising treatment for ultra-rare diseases – conditions that have an even lesser prevalence than others; treatable conditions for which approved therapies are available in India. To elaborate, compared to 1 in 10,000 live births for Spinal Muscular Atrophy or 1 in 3500 live births for Duchenne Muscular Dystrophy, the universal prevalence of Gaucher disease is 1:50,000 to a lakh. For Pompe disease, it’s even lower at 1:1.25 lakh.

Though some movement has occurred recently in the Rare Diseases’ domain with the notification of the National Policy on Rare Diseases 2021 on 31 March, the increased one-time assistance from INR 20 lakh under the Umbrella Scheme of Rashtriya Aarogya Nidhi (RAN) only covers the treatment cost of Group 1 Rare Diseases. The Government has often cited resource constraints for not funding the treatment of such patients. Yet, several countries, some smaller and poorer than India, have been providing much-needed support to patients diagnosed with treatable rare, genetic conditions.

Urgent, Compassionate Approach

Without any Government support for treatment, several patients have lost their lives in the interim. Today, a lack of immediate funding for the treatment of eligible patients with treatable conditions may result in the death of many others.

Although numerous rare diseases are prevalent in the country, it is logical to accord priority to treating RDs with assured treatment and proven clinical evidence. Several nations – such as Brazil, Argentina, Algeria, Egypt and other developing economies – have robust reimbursement mechanisms, often 100%, for dealing with RDs or have earmarked funds in their healthcare budgets specifically for these purposes.

While the few patients on therapy have hope for the future and are leading a near-normal life, the many patients awaiting treatment funding are slowly inching towards an uncertain future or demise, and need the required help at the earliest. If other countries can fully support patients suffering from rare diseases, why cannot India? Undoubtedly, the Government’s resource-constraint argument won’t stand the scrutiny of Article 21 – Right to Life.

Considering the number of RD patients diagnosed and deemed eligible for treatment by the respective state technical committees, the urgent requirement for funds to support the immediate treatment needs of diagnosed patients should not exceed INR 80-100 crore annually. Perceived holistically, the Centre’s contribution will work out to INR 40-50 crore – if it can convince the states for a load-sharing model. Some states such as Karnataka, Tamil Nadu and Kerala have already indicated their willingness.

The Centre must embrace a sense of immediacy by instituting speedy seed funding of INR80-100 crore while rolling out the National Policy so that the lifesaving therapy of all those patients with treatable Group 3 disorders like LSDs can be provided, reducing any further loss of life.

The Centre’s early intervention and prioritisation of funding support are imperative since rare diseases specifically impact children. Nearly 50% of new cases occur in children, causing 35% of deaths before age 1, 10% between the ages of 1-5 and 12% between 5-15 years. No doubt the lives of some patients can be saved – if the Centre looks at the issue from the prism of immediacy and compassion.

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