Rare-Disease Drugs: India’s Next Pharma Frontier

Why in News?

• India is emerging as a potential hub for rare-disease drug development and manufacturing. 
• Despite having a large number of rare-disease patients, access to medicines remains limited because of their extremely high cost and the lack of treatments for most rare diseases.
• The article argues that India can leverage its strengths in generic drugs, biosimilars, clinical research and low-cost manufacturing to build a globally competitive rare-disease pharmaceutical sector.

What Are Rare Diseases?

• Rare diseases are conditions that affect a very small proportion of the population individually. 
• However, there are around 8,000 rare diseases globally, collectively affecting hundreds of millions of people.
• In India, around 1,004 rare genetic disorders have been reported.Because the number of patients for an individual disease is small, pharmaceutical companies historically had limited commercial incentives to develop medicines for these conditions. Hence, such medicines are often called “orphan drugs.”

Why Are Orphan Drugs Expensive?

Developing a drug for a rare disease involves:

• A small patient population for clinical trials. 
• Difficulty in identifying suitable patients. 
• Limited commercial markets. 
• High research and development costs. 
• Complex manufacturing, particularly for gene and cell therapies. 

Consequently, companies may charge extremely high prices. For example, some rare-disease therapies can cost millions of dollars for a single treatment, while certain medicines may cost hundreds of thousands of dollars annually. This creates a major problem of affordability and access, particularly in developing countries.

Global Experience: Orphan Drug Act

The U.S. enacted the Orphan Drug Act in 1983 to encourage the development of medicines for rare diseases.

It provided incentives such as:

• Tax incentives. 
• Grants. 
• Regulatory fee waivers. 
• Market exclusivity for qualifying products. 

According to the article, before the Act, only 38 relevant drugs had been approved in the U.S.; by 2022, the number of approvals had increased to 1,122. Similar policy frameworks were subsequently introduced in countries and regions such as Japan, Australia and the European Union.

India’s Rare-Disease Challenge

• India has introduced financial assistance of up to ₹50 lakh for eligible rare-disease patients under the national framework.
• However, this amount may be insufficient because some therapies can cost several crores of rupees.
• The article highlights a case in which around ₹9 crore was raised through crowdfunding for gene therapy for a child in Kolkata.
• Another major problem is the limited availability of treatments. According to the article, existing drugs address only around 5% of rare diseases and associated conditions.
• Therefore, India faces two interconnected challenges: Affordability + Availability

Major Challenges in Developing Rare-Disease Drugs

1. Small Patient Population :- The limited number of patients for an individual rare disease makes clinical trials difficult.
2. Difficulty in Clinical Trials :- Researchers need to identify appropriate patient cohorts and suitable clinical endpoints.
3. High R&D Cost :- Gene therapies, cell therapies and other advanced treatments require substantial investment.
4. Manufacturing at Small Scale :- Rare-disease medicines may need to be manufactured in relatively small quantities while maintaining high quality and safety standards.
5. High Drug Prices :- Limited markets and high development costs can lead to very high prices.
6. Limited Treatment Options :-Many rare diseases still do not have an effective approved treatment.
7. Limited Participation of Indian Patients :-Indian patients are not sufficiently represented in international clinical trials for orphan drugs.

Why India Can Become a Rare-Disease Drug Hub?

India has several structural advantages.

1. Large Patient Population

• With a population exceeding 1.4 billion, even rare conditions can involve a significant number of patients.
• Certain communities also have higher prevalence of particular genetic disorders because of patterns such as endogamy.
• For example, the article cites beta-thalassemia prevalence of 10.5% in particular Indian ethnic groups, compared with 3.7% in the general Indian population according to a 2023 review.

2. Patient Advocacy Groups

• Disease-specific patient organisations and registries are increasingly emerging in India.
• Examples mentioned include:
  • GNE myopathy research involving a group of 70 people. 
  • Rett syndrome patient registries involving more than 400 patients. 
  • Such databases can help researchers identify suitable participants for clinical trials.

3. Pharmaceutical Manufacturing Capacity

• India is known as the “pharmacy of the world” because of its large-scale production of affordable medicines.
• The article highlights India's strengths in:
  • Generic medicines. 
  • Biosimilars. 
  • Small-molecule drugs. 
  • CAR-T cell therapy. 
  • Low-cost pharmaceutical manufacturing. 

4. Existing Export Ecosystem

• Indian pharmaceutical companies already supply medicines to major global markets, creating an ecosystem that could potentially be extended to rare-disease medicines.

Regulatory Opportunity: Rule 101

• Under Rule 101 of the New Drugs and Clinical Trials Rules, 2019, CDSCO has recognised certain countries, including the U.S. and U.K., for regulatory purposes.
• For specified drugs approved in these jurisdictions, a new clinical trial in India may not be required before seeking Indian regulatory approval, subject to applicable regulatory requirements.

Significance

This can:

• Reduce duplication of clinical trials. 
• Reduce development time. 
• Lower regulatory costs. 
• Facilitate availability of medicines in India. 
• Encourage domestic manufacturing of approved rare-disease medicines. 

However, the article argues that greater regulatory transparency and clear guidance documents are required.

What Should India Do?

1. Create a Streamlined Regulatory Pathway

• India should simplify regulatory procedures for rare-disease medicines while maintaining:
  • Safety standards. 
  • Efficacy requirements. 
  • Bioequivalence standards where applicable. 
  • Toxicity assessment. 
  • Pharmacovigilance. 
  • Good manufacturing practices. 

2. Encourage Clinical Trials in India

• The government can facilitate partnerships between:
• Foreign pharmaceutical companies + Indian research institutions + Patient groups
• This can increase Indian participation in international rare-disease trials.

3. Provide Financial Incentives

• India could develop incentives similar to Production Linked Incentive (PLI) schemes.
• Incentives could be linked to:
  • Production. 
  • Investment. 
  • Exports. 
  • Patient access. 

4. Promote Technology Transfer

National laboratories and research institutions can collaborate with companies on:

• Technology transfer. 
• Process development. 
• Manufacturing technologies. 

5. Government Procurement

• The government could provide Advance Market Commitments (AMCs) by committing to purchase specified quantities of medicines at predetermined prices.
• This would reduce market uncertainty for manufacturers.

6. Use Existing Public Health Networks

Rare-disease medicines could potentially be distributed through:

• Centres of Excellence for Rare Diseases. 
• Central Government Health Scheme. 
• Pradhan Mantri Bhartiya Janaushadhi Kendras. 

7. Promote Exports to Developing Countries

• India could leverage its low-cost manufacturing capability to supply affordable rare-disease medicines to low- and middle-income countries.

Benefit-Sharing and Rare-Disease Research

• An important concept discussed in the article is benefit-sharing.
• The underlying idea is that when countries, patients or communities contribute biological information and genetic data to research, the benefits arising from resulting medicines and technologies should be shared fairly.
• This principle has also been discussed in the context of the WHO Pandemic Agreement, particularly regarding pathogen information and equitable access to resulting medical products.
• For India, benefit-sharing could mean ensuring that Indian patients participating in clinical research are able to access the resulting medicines at affordable prices.

Way Forward

• India should move from being primarily a low-cost generic medicine manufacturer towards becoming a complete ecosystem for rare-disease medicines.
• This requires a coordinated approach involving:
• Research → Patient Registries → Clinical Trials → Regulatory Facilitation → Manufacturing → Government Procurement → Affordable Access
• The objective should not merely be to subsidise pharmaceutical companies. Instead, government intervention should de-risk initial investments sufficiently to make rare-disease drug manufacturing commercially viable.

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