Xplore RARE-X

Assessing the Rare Disease Landscape in India

Harsha Rajasimha’s first encounter with rare disease came in 2009 as a genomics data scientist working with the National Institutes of Health’s National Eye Institute analyzing next-generation sequencing data sets from inherited retinal disease familial cases.

A more personal and painful encounter came a few years later in 2012 when his wife gave birth to a girl with Edwards Syndrome. This rare congenital disease causes severe developmental delays. The baby never made it home from the neonatal intensive care unit and died three days after birth.

Though Rajasimha continues to put his experience as a genomics data scientist to work—he is founder and CEO of the decentralized clinical trials coordinator Jeeva Informatics Solutions, the loss of his child to a rare disease also turned him into a patient advocate. In 2019, he founded IndoUSrare; an independent non-profit focused on helping patients with rare diseases of Indian origin in the United States and India by building bridges between the east and west to accelerate research and develop diagnostics and therapies.

IndoUSrare is working with RARE-X to understand India’s rare disease landscape and will be conducting a feasibility study to assess where India is in terms of the regulatory process for patient data collection. Today, India has no law protecting patient data privacy as the Health Insurance Portability and Accountability Act does in the United States, or General Data Protection Rules in Europe, but legislation proposed in 2018 is moving forward to make changes.

India’s Ministry of Health and Family Welfare has proposed the Digital Information Security in Healthcare Act, legislation that would standardize and regulate the collection, storage, sharing, and use of digital health data. As drafted, the legislation would provide patients with control over their data and allow anonymized health data to be used for public health purposes.

Rajasimha said that while there are more than an estimated 70 million people living with a rare disease in India, the country recognizes just 450 rare diseases out of some 7,000 known to exist. He believes only a small portion of India’s rare disease patients have been diagnosed and describes the patient landscape as heterogeneous in terms of patients’ and their families’ level of awareness, economic status, and health information quality. For the most part, instead of relying on electronic health records, most people carry their health information on paper.

“With the Indian subcontinent comprising about a quarter of the world’s population, having those patients represented in RARE-X can mean a significant change in the diversity of the patient pool that the sponsors and research organizations will be able to utilize in their clinical trial planning,” said Rajasimha.

There are about 50 to 70 rare disease patient advocacy groups active in India. Most of them are focused on getting the government to pay for free treatments for their patients and are less focused on things like experimental treatments in clinical trials and research. Rajasimha said only about 2 percent of global clinical trials are conducted in India.

IndoUSrare will work with RARE-X to ensure it can address the India specific needs and serve as a model that could be replicated in other low- and middle-income countries, plus expand the rare disease community’s engagement beyond developed nations where there is a huge unmet need for rare disease patients.

“RARE-X will be significant in terms of giving patients of Indian origin significant visibility in a global database, which will be used as a source for identifying patients for recruitment into clinical trials or even assessing the market size and the potential number of patients that might benefit, or meet the inclusion-exclusion criteria in clinical trials,” Rajasimha said. “Traditionally, a majority of these databases are fully loaded with people of American or European descent, but not so much of the rest of the world. Having those patients represented in RARE-X can mean significant change in the diversity of the patient pool that the sponsors and research organizations will be able to utilize in their clinical trial planning.”

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