Though they are called ‘rare’ diseases, around 70 million people in the country suffer from them, said Prasanna Kumar B. Shirol, founder-director of Organisation for Rare Diseases India.
According to the World Health Organisation, 6 to 8 per cent of the population suffers from rare diseases. “About 30 per cent of children with rare diseases die before their fifth birthday,” said Mr. Shirol.
He called for a rare disease policy from the Indian government, like the Orphan Drug Act in the U.S. which incentivises research on uncommon diseases. For a patented drug available worldwide, companies could produce a similar drug with minor changes, or the WHO can intervene and reduce prices, he said. “Even when treatment exists for a particular disease, it is not available in India,” he said.
Mr. Shirol’s 14-year-old daughter suffers from Pompe disease, and was one of the first diagnosed patients in India. Her treatment costs could run up to Rs. 1.5 crore a year, he said.
A U.S. company, Sanofi Genzyme, funds her treatment under their charitable excess programme. “Because I was able to connect to international organisations, I could get help for my daughter. Many people are unable to do so, which is what led me to advocacy,” he said.
“The first thing the government needs to do is provide financial support, as treatment is almost unaffordable,” said Aditya Kulkarni of Aten Porus Lifesciences, a Bengaluru-based institute which is the only Indian company working on drug development research for rare diseases.
Global collaboration
Considering the lack of information and support towards researching lesser-known diseases, it would be of help to be part of a global research pool, Mr. Kulkarni said. Aten has collaboration with the University of California, Berkeley, and Sapienza University of Rome to find treatment for Niemann-Pick Type C disorder, which affects one in 1.5 lakh population. It is also conducting trials for drugs for two other rare diseases — Pompe disease and Homozygous Familial Hypercholesterolemia.
“Animal tests for Niemann-Pick Type C disorder have shown positive results,” said Mr. Kulkarni. They are currently doing clinical trials for a drug which can be administered subcutaneously, similar to insulin injections.
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Why rare diseases are prevalent in India
High degree of consanguineous marriages
Burgeoning population
Lack of infrastructure to deal with diseases of this nature
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80 p.c. of rare diseases are genetic in nature
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Number of cases*
Multiple myeloma
Global: 86,000 new cases a year
India: 6,000 new cases a year
Duchenne muscular dystrophy
Global: 20,000 new cases a year
India: 2,500 new cases a year
Pompe disease
Global: 10,000 cases
India: exact number not known
Haemophilia
Global: nearly 4,00,000 cases
India: nearly 2,800 new cases a year (as of 2010)
(*Source: Aten Porus Lifesciences, Bengaluru)