Why is it important to engage rare disease stakeholders in India with global clinical research?

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With a mission to educate, empower, and advocate for patients with rare diseases in the US and India, the Indo-US Organization for Rare Diseases (IndoUSrare) aims to build cross-border collaborations and connect the global rare disease community to accelerate access to therapies.

There are three key reasons India should be on top of the mind when recruiting patients for clinical trials for orphan therapies. With nearly 70 billion people estimated to be affected by rare diseases, India contributes to about one-fifth of the global rare disease patient population. Some experts believe geographical location, levels of rarity, and prevalence of disease play an important role, and India is still collecting the data to support its concept of the definition. India represents an attractive location to accelerate patient recruitment by the biopharmaceutical industry which will facilitate the collection of a sufficient amount of data for analysis.1 

In India, only a few rare diseases have been recorded, these too mostly from tertiary care hospitals. Timely diagnosis and management mitigate most of the challenges faced by the patients and their families. According to India’s National Policy of Rare Diseases, the average time for diagnosis of a rare disease is 7.6 years in the US and 5.6 years in the UK. Because it is critical to provide patients with an accurate diagnosis of a rare disease at the earliest to determine the best care regimen, the very lack of awareness amongst the general public and the medical fraternity is astonishing and alarming. This calls for campaigns to improve awareness, train doctors for early and accurate diagnosis, and develop therapeutics. Globally speaking, although there has been documentation of about 7000-8000 rare diseases in recent years, only less than 5% have approved therapies. Less than 1 in 10 patients get disease-specific treatment. 

From an epidemiological standpoint, India lacks data on the number of people currently suffering from various rare diseases. This is especially challenging since it interferes with the interpretation of the extent of the burden of the rare diseases, the associated morbidity, and mortality. It is a well-known fact that rare diseases place a major economic burden on any country, especially in a resource-limited setting.2 

Research on rare diseases is challenging. With the limited information available on pathophysiology coupled with the small population of affected patients, most of the diagnoses tend to be along the lines of other recently published reports. Over 600 orphan drugs have been approved so far by the US FDA in the last 37 years since the Orphan Drug Act came into place. Despite the availability of these drugs, several limiting factors like high development costs, fewer patients, and lack of competition seem to affect the course.2 

This calls for international collaboration for managing every aspect, right from diagnosis to the recruitment of individual patients to clinical trials. This can improve funding opportunities in pre-clinical and clinical research, development of new therapies, diagnosis, and categorization of rare diseases. This will also enable researchers to work closely with the physicians who are committed to this field and with patient groups and families dealing with the consequences of these disorders. 

Over the last few years, a few organizations have been working to provide a common framework to assist the patient population and develop a global, online information hub about rare diseases. These include maintaining a biorepository of samples for use by Indian researchers in approved translational research, broadcast of best practices, raising public awareness about rare diseases, hosting conferences, engaging with key stakeholders to develop and deliver affordable diagnostics and treatment options.3 Policymakers have a big role to play in ensuring the proper allocation of existing resources while maintaining a balance with public health interests. 

There is an immediate need to prioritize and discuss tackling rare diseases in a resource-limited setting like India. The best options seem to be to support physicians and research opportunities, and connect patients to clinical trials and facilitate their recruitment. Keeping the public health interest in mind, policymakers should endeavor to deliver affordable diagnostics and treatment options and try to overcome the lack of awareness regarding rare diseases in India

Author Bio: 

Dr. Seema Balasubramaniam is an Educational Commission for Foreign Medical Graduate certified doctor and holds an MBBS degree from India. Seema loves working with children, and her interests include pediatrics genetics, early child development, and rare diseases. In her free time, she is passionate about raising awareness about rare diseases and is a volunteering advocate at the IndoUSrare organization


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