Advanced therapies for rare disorders in India

Dr Tejinder Kataria, Chairperson, Radiation Oncology, Cancer Care, Medanta, Gurugram highlights that the potential of advanced therapies for treating rare disorders in India is immense. Collaborative efforts involving government agencies, pharma companies, research institutions, and patient advocacy groups are key to overcoming the existing challenges

Rare diseases often leave patients with limited treatment options and a significant burden on their health. Haemophilia, a blood clotting disorder, is one such example. While official reports show 11,586 diagnosed cases of haemophilia A, estimates suggest the actual number of people living with the condition in India could be as high as 50,000.¹ However, a new wave of advanced therapies offers a glimmer of hope for these patients.

The challenge of rare disorders

India is estimated to have over 70 million people living with rare diseases.² These conditions, characterized by their low prevalence and high complexity, pose a significant challenge to diagnosis, treatment, and management. Limited research, coupled with the high cost of specialized care, often leaves patients struggling to access effective treatment.

Haemophilia, a genetic disorder affecting blood clotting, is one such rare disease.³

In India, an estimated 50,000 people suffer from haemophilia A and B, experiencing spontaneous bleeding episodes and potential joint damage.⁴ The current standard treatment relies on frequent injections of clotting factor concentrates, a life-long endeavor with limitations in efficacy and compliance.

Advanced therapies: A paradigm shift

Advanced therapies, encompassing gene therapy and cell therapy, offer a revolutionary approach to treating rare disorders like haemophilia.⁵ These therapies aim to address the root cause of the disease, potentially offering a more durable and curative solution.

• Gene therapy: This approach introduces a functional copy of the missing or defective gene into a patient’s cells.⁶ In the case of haemophilia, the goal is to deliver a healthy copy of the clotting factor gene, enabling the body to produce the missing protein on its own.

• Cell therapy: This strategy involves manipulating a patient’s own cells or using healthy donor cells to treat the disease.⁷ Genetically modified cells can be introduced into the patient, allowing them to produce the deficient clotting factor.

The promise of gene therapy for Haemophilia

This therapy utilises an adeno-associated virus (AAV) vector to deliver a functional copy of the Factor IX gene into liver cells, enabling sustained production of the clotting factor. While not yet approved in India, this development signifies a significant step towards gene therapy becoming a reality for haemophilia patients.

Challenges and opportunities in India

Despite the promise of advanced therapies, significant challenges need to be addressed:

• Affordability: Advanced therapies can be extremely expensive, posing a major hurdle for many patients in India. Developing cost-effective manufacturing processes and exploring insurance coverage options are crucial.

• Regulatory framework: India’s regulatory framework for advanced therapies is still evolving. Streamlining approval processes while ensuring patient safety is necessary for faster adoption of these therapies.

• Infrastructure and expertise: Implementing advanced therapies requires specialised infrastructure and trained personnel.⁸ Building capacity within India for both research and clinical trials is essential.

Looking ahead: A collaborative effort

The potential of advanced therapies for treating rare disorders in India is immense. Collaborative efforts involving government agencies, pharma companies, research institutions, and patient advocacy groups are key to overcoming the existing challenges.

• Government initiatives: The Indian government has taken steps to address rare diseases through initiatives like the National Policy for Rare Diseases 2021.⁹ Continued research funding and support for clinical trials are crucial for advancing these therapies.

• Collaboration between academia and industry: Partnerships between academic institutions and pharmaceutical companies can expedite research and development efforts, leading to more affordable and accessible therapies.

• Raising awareness: Increasing public awareness about rare diseases can encourage early diagnosis and facilitate access to advanced therapies when they become available.

Advanced therapies hold immense potential for transforming the lives of patients with rare disorders like haemophilia. While challenges remain in terms of affordability, regulation, and infrastructure development, collaborative efforts offer a beacon of hope. By embracing technological advancements and building a robust ecosystem, India can pave the way for a future where rare diseases no longer pose such a significant burden on patients and their families.

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