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Breaking Barriers: Access to Treatment for Rare Diseases in India

10 months, 3 weeks ago

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Posted on Jul 10, 2023, 2 p.m.

Breaking Barriers: Access to Treatment for Rare Diseases in India

By Nisha Venugopal, Ph.D.

The World Health Organisation (WHO) defines rare diseases as debilitating, lifelong disorders with a prevalence of less than one per 1,000 persons. They include autoimmune disorders, congenital malformations, inherited cancers, and a few endemic infectious diseases that have very low prevalence. Many of these diseases are genetic and can manifest at any age, from infancy to adulthood. There are over 10,000 known rare diseases, with more being added to the list daily. Rare diseases can often be life-threatening or severely debilitating. India is home to an estimated 70 million affected by a rare disease as per the Indian Council of Medical Research.

Unfortunately, in India, access to healthcare is a major issue even for more common conditions. Rare diseases pose extra challenges and add significant economic strain to families. Rare diseases are often difficult to diagnose, with the “diagnostic odyssey” taking on average 7 years.  Even when patients have a confirmed diagnosis, treatment options can be limited due to the rarity of these conditions, and many people are left without proper medical care. Some of the treatable rare diseases that people in India face difficulty in accessing therapy are Lysosomal storage diseases such as Gaucher disease, Pompe, Fabry, and Niemann-Pick disease. These are genetic conditions that can be treated using enzyme replacement therapy. Other diseases do not have approved treatments but can be managed through special diets, lifestyle changes, and available medicines like steroids.

The lack of access to treatment for these and other rare diseases in India is due to several factors. The cost of treatment is beyond the reach of most patients Additionally, most of these treatments are not covered by insurance, even if the patient is lucky to have coverage - it is reported that less than 10% of the Indian population has some form of medical insurance. Another significant factor is the lack of awareness and knowledge among healthcare professionals who do not know how to diagnose or treat rare diseases. Regulatory barriers also pose hurdles to accessing treatments that need to be imported.

To address this issue, the government has launched several initiatives. The National Policy for Rare Diseases announced in 2021 aims to provide affordable and accessible treatment for rare diseases and offers financial support of up to 5 million Indian rupees per patient. Additionally, the government has also initiated establishing a network of Centers of Excellence for diagnosing and treating rare diseases. Recently, the government also announced a waiver of customs duty for medicines for rare diseases.

Clinical trials are research studies that test the safety and effectiveness of new treatments, therapies, or medical devices and offer patients access to novel therapeutic options which are not yet on the market. Clinical trials can offer a potential lifeline for patients with rare diseases struggling to find appropriate care options, where no other treatment modality exists. This is the case for around 95% of rare diseases that do not have any approved treatment. However, access to clinical trials can be limited for some patients, particularly those living in low- and middle-income countries like India. Barriers to access may include the lack of awareness of the benefits of participation, limited availability of clinical trials in the country, and concerns around safety and efficacy. Even in developed countries, minorities face difficulty in accessing clinical trials. The Indian diaspora is the largest in the world with over 4.2 million people of Indian origin in the United States alone. However, the Indian population is severely underrepresented in clinical research for rare diseases. This lack of diversity can cause any drugs which may eventually come to market to be based on data from predominantly Caucasian subjects thereby raising concerns of safety and efficacy in other populations.

Organizations like IndoUSrare can play a crucial role in accelerating access to treatment for rare diseases in India by building global collaborations of all stakeholders for rare disease research and initiating programs to raise awareness and empower patients to be included in global rare disease research initiatives. Such international collaborations are essential to leveraging the latest emerging technologies to address challenges in rare disease research and will allow previously unaffordable therapeutics to be made available to all patients with rare diseases globally.

This article was written for WHN by Nisha Venugopal who is the Program Manager at IndoUSrare where she hopes to use her experience in the cell biology of rare diseases and policy research on clinical trial transparency to support and help patients gain access to life-saving therapies through research, outreach and advocacy efforts to drive policy changes in favor of rare disease patients in India. She has a Ph.D. in Life Sciences from the CSIR - Centre for Cellular and Molecular Biology (CCMB), India, where she studied the role of the primary cilium in adult skeletal muscle stem cells. Her postdoctoral research at the Institute for Bioinformatics and Applied Biotechnology, India involved a detailed analysis of global clinical trial registries. Visit

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