Rare Disease Clinical Trials in India: Challenges & Progress

Imagine being a parent watching your child struggle with unexplained symptoms—fatigue, developmental delays, or frequent infections. You visit doctor after doctor, but no one has answers. Years pass before a diagnosis is made, and even then, treatment options are limited or unavailable. This is the reality for many families in India affected by rare diseases.

India is home to over 1.4 billion people, and even diseases considered “rare” globally can affect tens of thousands locally. Yet, India remains underrepresented in global rare disease clinical trials. Why? And what’s changing?

The Scientific Challenge: Diagnosing the Rare

Rare diseases are often genetic, complex, and multisystemic. Globally, patients face an average diagnostic delay of 4.7 years (1). In India, this delay is even longer due to:

Low awareness among primary care clinicians
Limited access to genetic testing like Whole Exome Sequencing (WES) and Next-Generation Sequencing (NGS)-concentrated in metros and longer turnaround times.
Very few tertiary rare disease centres with multidisciplinary clinics.
Lack of coordinated care pathway and patient referral network
High costs and lack of insurance coverage
No universal national newborn screening program, meaning many conditions go undetected until irreversible damage occurs

The Genome India project launched in 2020 is a scientific breakthrough aiming to map India’s genetic diversity (2). This initiative could revolutionize diagnostics by creating a comprehensive reference database making genomics-based tools more affordable and population-specific, helping identify patients earlier and more accurately (3).

The Clinical Trial Gap: Why Patients Are Left Out

Despite the large patient pool, only 4.5% of global rare disease trials have recruited patients in India (4). The reasons are multifaceted:

Lack of epidemiological data and rare disease registries/KOL network:
Without prevalence figures, sponsors struggle to plan recruitment.
Geographic dispersion:
Patients often live in rural areas, far from metro cities, the trial sites impact patient identification and accrual, complicates logistics and follow up.
Financial burden:
Out of pocket expense, limited reimbursement, travel, accommodation, and missed wages make participation nearly impossible.
Limited clinical trial visibility and engagement:
Many patients and caregivers don’t know clinical trials exist or how to enrol.(4)

Clinical trials can offer access to potential therapies, closer medical monitoring, and meaningful options for patients who may have limited alternatives.

Against this backdrop, experienced CROs can play a critical role. Fortrea, a global clinical research organization, is actively working to bridge this gap by leveraging its extensive experience in rare disease trials and decentralized models. Through patient-centric trial designs and strategic site networks, Fortrea supports sponsors in reaching underrepresented populations and enhancing trial accessibility across India

Regulatory Science: Progress and Pitfalls

India’s regulatory framework has evolved. The New Drugs and Clinical Trials Rules (NDCTR) 2019 (5) introduced:

Accelerated 90-day approval for orphan drugs
Exemptions from Phase 3 trials if drugs are approved in the US/EU
Fee waivers to encourage research

Further, in August 2024, the Central Drugs Standard Control Organization (CDSCO) announced the waiver of local clinical trial requirements for select drugs approved in jurisdictions such as the US, UK, EU, Japan, Australia, and Canada (6).

However, implementation is inconsistent. Sponsors still face logistical hurdles, especially around importing investigational drugs and navigating approval timelines.

Success Stories: Seeds of Change

Despite the challenges, India is making strides:

Centers of Excellence (CoEs)

Under the National Policy for Rare Diseases (NPRD) 2021, 12 CoEs have been established with adequate disbursement of funds. These centres offer specialized care, host clinical trials, and maintain patient registries—creating a more structured ecosystem for rare disease research (7).

National Rare Disease Registry (ICMR)

This hospital-based registry is collecting standardized data to support policy planning and trial design. It’s a critical step toward building evidence-based recruitment strategies.

Digital Health and Telemedicine

eSanjeevani (National Telemedicine Service of India) – A Government of India–led telemedicine initiative that enables rare disease patients to consult specialists in metro cities without the need for physical travel (8).
Indian Council of Medical Research – National Registry for Rare and Other Inherited Disorders (ICMR NRROID) – A centralized digital registry that captures standardized data on rare and inherited disorders to support research, policy planning, and clinical trial design (9).
Organization for Rare Diseases India (ORDI) – A national patient advocacy organization that operates a dedicated patient helpline, providing information, guidance, and access to care resources for individuals living with rare diseases (10).
Unique Methods of Management and Treatment of Inherited Disorders (UMMID) and NIDAN Kendras – A nationwide network of genetic diagnostic centres aimed at early diagnosis, awareness generation, capacity building, and medical education in inherited and rare disorders (11).

What Patients Need Next

Expand genetic testing and make it affordable
Raise awareness through patient advocacy and education
Design trials that minimize burden—e.g., reimburse travel, align assessments with routine care
Strengthen registries to capture real-world data
Foster collaboration between government, industry, and patient groups

Conclusion: A Future Within Reach

India stands at a pivotal moment. Recent years have seen the emergence of a more coherent policy framework aimed at building a connected rare disease ecosystem. With scientific innovation, regulatory reform, and patient-centred trial design, there is growing momentum to transform the rare disease landscape and establish a more resilient patient focused environment. For patients, this means earlier diagnosis, better care, and access to treatments that were once out of reach.

Fortrea’s global experience in rare disease research, combined with its local operational footprint in India, positions it as a valuable contributor in advancing these goals. By supporting sponsors with regulatory navigation, patient-engagement strategies, and real-world data integration, Fortrea support the development of a more inclusive and effective rare disease trial ecosystem.

Connect with Fortrea today to discover how we can help you design and execute rare disease clinical trials in India that deliver meaningful results.

Rare Disease Trials in India: A Patient’s Journey Through Science, Barriers, and Hope

The Scientific Challenge: Diagnosing the Rare

The Clinical Trial Gap: Why Patients Are Left Out

Lack of epidemiological data and rare disease registries/KOL network:

Geographic dispersion:

Financial burden:

Limited clinical trial visibility and engagement: