Accessing Rare Disease Treatments in India: Challenges & Solutions

Rare diseases individually affect a small number of people, but collectively they represent a significant public health challenge. Globally, over 7,000 rare diseases have been identified, and it is estimated that 400 million people worldwide live with a rare condition.¹ In India alone, experts suggest that 70 million people may be affected, despite the absence of a comprehensive national registry.²

The journey from symptoms to diagnosis and finally to treatment is often long, emotionally and exhausting.³ Many rare diseases are genetic, progressive, and life‑threatening, yet effective therapies are either unavailable in India or accessible only through complex pathways.⁴ This blog explores the key challenges in accessing rare disease treatments in India and outlines practical, evolving solutions for clinicians and patients.

Understanding Rare Diseases in the Indian Context

What is a Rare Disease?

In India, a rare disease is broadly defined as a condition affecting fewer than 1 in 2,500 individuals. Examples include sickle cell anemia, spinal muscular atrophy (SMA), cystic fibrosis, haemophilia, beta thalassemia trait, Intellectual disability, and certain rare cancers and metabolic disorders.²

Why Rare Diseases Are Especially Challenging?⁴

• Delayed diagnosis due to low awareness
• Limited treatment options within the country
• Lack of ample resource for R&D
• Lack of specialized centers

Key Challenges in Accessing Rare Disease Treatments in India

1. Diagnostic Delays and Misdiagnosis

One of the most significant barriers is delayed or incorrect diagnosis. Rare diseases often present with non‑specific symptoms that mimic more common conditions. Patients may consult multiple doctors over several years before receiving an accurate diagnosis. A rare disease patient usually undergoes three misdiagnoses and takes up to 7 years to reach the right diagnosis ²

2. Limited Availability of Approved Therapies

Many orphan drugs approved by the US FDA or EMA are not commercially available in India due to⁵:

• Small patient populations
• High cost of development
• Limited commercial viability

As a result, doctors often have to explore alternative access routes.

3. Regulatory and Import Barriers

Even when treatments exist internationally, importing them into India involves⁶:

• Regulatory approvals
• Documentation and compliance
• Customs clearance delays

For critically ill patients, these delays can be life‑threatening.

4. Lack of Awareness and Trained Specialists

Rare diseases are not extensively covered in undergraduate medical curricula. This results in⁷:

• Low index of suspicion among primary care physicians
• Limited referral to specialists
• Uneven distribution of expertise across regions

5. Inadequate Data and Registries

India lacks a unified, nationwide rare disease registry. Without accurate epidemiological data⁴:

• Policy planning becomes difficult
• Research and clinical trials are limited
• Pharmaceutical investment remains low

Policy Landscape: India’s National Policy for Rare Diseases (NPRD)

The Government of India introduced the National Policy for Rare Diseases (NPRD), updated in 2021, to address some of these challenges.⁸

Key Features of NPRD 2021⁹

1. Classification of rare diseases into three groups based on treatment feasibility
2. Financial assistance up to a defined limit for eligible patients
3. Designation of Centers of Excellence (CoEs) for diagnosis and management
4. Emphasis on early screening and awareness

Limitations of the Policy

While a positive step, the policy faces challenge such as^8,9:

1. Limited funding
2. Restricted disease coverage
3. Complex application processes

Actionable Strategies for Clinical Practice and Patient Care

Named Patient Programs (NPPs)¹⁰

One of the most important access pathways in India is the Named Patient Program (NPP) such as Rx4U.

What is an NPP?

Rx4U is a legal and ethical portal that allows import of unapproved or unavailable medicines for individual patients based on a treating physician’s prescription.

Benefits:

• Access to life‑saving therapies not marketed in India
• Physician‑driven decision‑making
• Regulatory compliance

Common therapies accessed via NPPs include:

• Enzyme replacement therapies
• Gene therapies
• Rare oncology and haematology drugs

Collaboration with Patient Support Organizations⁸

Patient advocacy groups play a crucial role in:

• Disease awareness
• Emotional and peer support
• Navigating access pathways
• Fundraising and policy advocacy

Examples include disease‑specific foundations for SMA, thalassemia, lysosomal storage disorders, and haemophilia.

Increasing Clinical Research and Trials⁸

Clinical trials offer patients access to cutting‑edge therapies at no cost. India has the potential to become a hub for rare disease research due to:

• Large population
• Genetic diversity
• Growing clinical research infrastructure

Encouraging participation in ethically conducted trials benefits both patients and the medical community.

The Road Ahead: Building a Sustainable Rare Disease Ecosystem⁸

To improve access to rare disease treatments in India, a multi‑stakeholder approach is essential:

Government: Increased funding, simplified policies, newborn screening programs

Healthcare providers: Education, early diagnosis, referrals

Pharmaceutical companies: Affordable pricing models, expanded access programs

NGOs and patient groups: Advocacy and support

Researchers: Local data generation and innovation

Conclusion

Accessing rare disease treatments in India remains challenging, but it is no longer impossible. With evolving policies, Named Patient Programs such as Rx4U, growing awareness, and collaborative efforts between doctors, patients, industry, and government, meaningful progress is being made.

For doctors, staying proactive and informed can save lives. For patients, persistence, awareness, and the right medical guidance can open doors to therapies once thought unreachable. Together, these efforts can transform the rare disease landscape in India from one of limitation to one of hope.

Frequently Asked Questions (FAQs)

Q. Are rare disease treatments available in India?

A. Some are available, but many are accessed through special pathways such as Named Patient Programs or clinical trials.

Q. What is a Named Patient Program?

A. It allows import of medicines not approved or marketed in India for individual patients with a valid prescription.

Q. Where should patients seek care?

A. Tertiary hospitals, Centers of Excellence, and specialists experienced in rare diseases.

Reference : 

- Chung CC, Hong Kong Genome Project, Chu AT, Chung BH. Rare disease emerging as a global public health priority. Front Public Health. 2022;10:1028545.

- The GUaRDIAN Consortium, Sivasubbu S, Scaria V. Genomics of rare genetic diseases—experiences from India. Hum Genomics. 2019;14:1.

- Phillips C, Parkinson A, Namsrai T, et al. Time to diagnosis for a rare disease: managing medical uncertainty. A qualitative study. Orphanet J Rare Dis. 2024;19(1):297.

- Angural A, Spolia A, Mahajan A, et al. Understanding rare genetic diseases in low resource regions like Jammu and Kashmir–India. Front Genet. 2020;11:415.

- Konwar M, Maurya MR, Nishandar TB, Thatte UM, Gogtay NJ. An evaluation of drug lag for new drugs approved by the Indian regulator relative to the United States, European Union, and Japanese regulatory agencies: A 15-year analysis (2004–2018). Perspect Clin Res. 2021;12(3):159-64.

- Kumar MP, Medhi B. Experience of an academic institute in importing a novel preclinical drug into India. Indian J Pharmacol. 2017;49(4):322-4.

- Huynh S, Wan EL, Pham A, et al. Rare disease education in medical schools: patient-centered and innovative strategies. Orphanet J Rare Dis. 2025 Nov;20(1):596.

- Mishra S, Bhat D, Venkatesh MP. Navigating health policies and programs in India: exploring opportunities to improve rare disease management and orphan drug research. Orphanet J Rare Dis. 2024;19(1):446.

- National policy for rare diseases, 2021. Accessed January 21, 2025. https://rarediseases.mohfw.gov.in/uploads/Content/1624967837_Final-NPRD-2021.pdf

Note:

This information is provided for educational purposes only and is not a substitute for professional medical advice. Patients should always consult their doctor or pharmacist for advice on diagnosis, treatment, and medication use, and should not make changes to their prescribed therapy without medical supervision.

Disclaimer:

Rx4U procures prescribed medicines directly from manufacturers or authorized distributors. It does not claim ownership of any trademarks and complies with the provisions of the Trademark Act, 1999, particularly Sections 30 and 30(1) concerning ‘Fair Use’. It solely facilitates access to new launches through named patient import.