India Turns to Enzyme Replacement Therapy as it Seeks to Address Rare Diseases

According to a story from, the country of India is currently beginning to take more steps in order to address the dire unmet medical need of its rare disease patient population. Recent statistics register over 8,000 rare disease patients in the country, but there are sure to be thousands if not millions more in the nation of over one billion people. In its efforts to improve the lives of rare disease patients, India is turning to a decades old treatment approach: enzyme replacement therapy (ERT).

About Enzyme Replacement Therapy

Enzyme replacement therapy is a tried and true method for treating certain rare diseases. Studies suggest that patients using this treatment can see their lifespans extended by 10 to 15 years in comparison to someone who is not using it. Enzyme replacement therapy is especially popular for lysosomal storage diseases, such as Fabry disease, Hunter syndrome, and Gaucher disease. These illnesses are characterized by the absence of a certain enzyme in the body, which causes symptoms. This form of treatment supplies the body with the necessary enzyme. While this does not address the underlying genetic cause of the disease, the therapy can reduce the severity of symptoms and improve a patient’s quality of life substantially.

Currently, the situation for rare disease patients in India is dire to say the least. The vast majority go untreated and undiagnosed. Estimates suggest that only one in every 20 rare disease patients in India is ever successfully diagnosed. Misdiagnosis is also commonplace.

Treating Lysosomal Storage Diseases

With a proven track record of effectiveness, the Indian government is hoping to make enzyme replacement therapy more widely available to the patients that need it. Lysosomal storage diseases are among the most prevalent of rare diseases that are known in the country so far. The Japanese drug company Takeda Pharmaceuticals has already been approved to collaborate with the government to help introduce enzyme replacement therapies into India.

Getting these treatments to the patients that need it is just one of many steps that India must take in order to improve the lives of its citizens that are facing a rare disease diagnosis.


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