Rare diseases are often debilitating, lifelong conditions that affect a small percentage of the population, representing a significant public health challenge worldwide. Defined by the World Health Organization (WHO) as diseases with a prevalence of 1 or fewer cases per 1,000 individuals, these conditions impact millions globally but remain largely underfunded and understudied. In India, the situation is exacerbated by a lack of comprehensive epidemiological data, complicating the understanding and management of these diseases.

• Recently, the Delhi High Court took a significant step toward improving the accessibility of orphan drugs essential for treating rare diseases. Currently, around 55 medical conditions fall under this classification in India, including Gaucher's disease and various forms of muscular dystrophy. Alarmingly, only 5% of these rare diseases have available treatments, leaving a vast majority of patients without specific care.

Key Directions from the Delhi High Court:

The Delhi High Court recently issued directives aimed at improving access to "orphan drugs," which are critical for treating rare diseases. These directions include:

1. Constitution of the National Rare Diseases Fund (NRDF): This fund aims to reduce prices and improve accessibility to medications.
2. Inclusion in the Companies Act, 2013: Donations for rare diseases will be recognized under Schedule VII, facilitating Corporate Social Responsibility (CSR) contributions.
3. Administration by the National Rare Disease Cell: The NRDF will be overseen by one or more nodal officers from the Ministry of Health and Family Welfare (MoH&FW).
4. Development of a Centralized Information Portal: A national portal will be established within three months to include a patient registry and available treatments.
5. Fast-Track Approval Process: The Union of India has directed the Drug Controller General of India (DCGI) and Central Drugs Standard Control Organization (CDSCO) to create a dedicated fast-track approval process for drugs and therapies related to rare diseases within 60 days.

The Indian Scenario: Current Landscape:

• India faces a considerable gap in data concerning rare diseases. The National Registry for Rare and Other Inherited Disorders (NRROID), initiated by the Indian Council of Medical Research (ICMR), has recorded around 14,472 rare disease patients; however, this number represents only a fraction of those affected. Estimates suggest that globally, there could be between 7,000 to 8,000 different rare diseases, including prevalent conditions such as Gaucher’s disease, Cystic fibrosis, and Lysosomal storage disorders.
• The economic burden of rare diseases is profound, as treatments are often prohibitively expensive. Many orphan drugs are patented, leading to exorbitant costs that make them inaccessible to most patients. Currently, therapies are available for less than 5% of rare diseases, which results in fewer than 1 in 10 patients receiving disease-specific care​. This situation underscores the urgent need for systemic reforms in policy and practice.

Cost and Availability of Orphan Drugs:

The high cost of orphan drugs is a significant barrier to treatment. Many of these medications are patented, leading to exorbitant prices. The small market for rare disease treatments often dissuades pharmaceutical companies from investing in their development. The court stressed the importance of negotiating with pharmaceutical companies and promoting domestic manufacturing to lower costs.

Moreover, the court expressed concerns over a 2019 order that exempted orphan drugs from price controls, emphasizing the need for regulation in this area.

Policy Framework and Recent Developments:

• In 2021, the Indian government launched the National Policy for Rare Diseases (NPRD), aimed at reducing the incidence and prevalence of rare diseases through a comprehensive approach. This policy provides financial assistance of up to ₹50 lakh to patients receiving treatment at identified Centres of Excellence (CoEs), such as AIIMS Delhi and PGIMER Chandigarh.
• Recently, the Delhi High Court issued directives to improve the availability of orphan drugs, recognizing the critical need for better access to treatments. The court mandated the establishment of a National Rare Diseases Fund (NRDF), which will be managed by a dedicated cell within the Ministry of Health and Family Welfare (MoHFW)​.
• This fund aims to lower drug prices and enhance accessibility for patients suffering from rare diseases.

Economic Considerations and Funding Challenges:

• The treatment of rare diseases poses significant economic challenges, especially in resource-constrained settings like India. Policymakers must balance competing public health priorities while allocating limited resources. The high costs associated with rare disease treatments necessitate prioritization, where interventions that offer the most significant health benefits for larger populations are favored.
• Current funding policies, such as the Rashtriya Arogya Nidhi, provide financial assistance to poor patients suffering from rare diseases, yet many families still struggle to access necessary care. Reports indicate that financial assistance of ₹24 crore was released to CoEs for rare disease patients until August 2024, but these funds are insufficient given the scale of the need. Furthermore, the lack of systematic epidemiological studies hinders accurate estimations of the burden of rare diseases, complicating the allocation of resources.

Future Directions: Strengthening the Framework

1. Comprehensive Epidemiological Studies: Systematic studies are needed to ascertain the number of individuals suffering from rare diseases and to better understand their associated morbidity and mortality. This data is critical for formulating effective health policies.
2. Public Awareness and Education: Increasing awareness about rare diseases among healthcare providers and the general public can facilitate early diagnosis and treatment. Educational initiatives can help demystify these conditions and encourage research into potential treatments.
3. Incentivizing Domestic Production: The government should consider providing incentives for pharmaceutical companies to develop and manufacture rare disease treatments locally. This could include tax breaks or grants for research and development, thereby reducing costs and increasing accessibility.
4. Streamlining Drug Approval Processes: The establishment of a dedicated fast-track approval process for rare disease drugs can help expedite access to necessary therapies.
5. Enhancing Funding Mechanisms: Expanding funding mechanisms, including incorporating donations for rare diseases into the Schedule VII of the Companies Act, 2013, would enable corporate social responsibility (CSR) contributions, bolstering financial support for affected patients.

Conclusion:

Addressing the challenges posed by rare diseases in India requires a multifaceted approach that encompasses policy reform, increased funding, and improved data collection. By focusing on the specific needs of this population, the Indian government can enhance health outcomes and ensure equitable access to treatment. As the landscape evolves, ongoing dialogue among stakeholders—patients, healthcare providers, policymakers, and pharmaceutical companies—will be essential in shaping a more inclusive healthcare system for rare diseases in India.