Mr Premroop Alva was diagnosed with hemophilia at a very young age
There are an estimated 6,000-7,000 rare diseases which have been identified, of which for only 500 diseases treatment is currently available. As per WHO estimates, India has 70 million rare disease patients. Still, no significant research is happening in this area.
"Given the huge burden of rare diseases we have in India, there is an urgent need to invest in clinical research that ensures that patients have access to new drugs and treatment which research makes possible," said Dr Vikas Sharma, member, Ethics Council, Indian Society for Clinical Research (ISCR). He was speaking at an event organized by ISCR on the occasion of World Rare Disease Day, which falls on February 28.
Due to the lack of awareness even among the medical fraternity, rare diseases generally take a long time to diagnose. Lack of availability of treatment and high costs (for available ones) poses another challenge.
"Awareness, accessbiliy and affordability are the key needs of patients suffering from a rare disease and an early diagnosis is a critical challenge in the management of rare disease," said Dr Prasanna Shirol, founder, Organisation for Rare Diseases India (ORDI), and whose daughter has a rare disease called Pompe.
Stressing the need for clinical research in rare diseases, Dr Suneela Thatte, president, ISCR said, "India has 17 percent of the world's population, 20 percent of the highest disease and yet less than 1.5 percent of the global trials take place in India. The number of trials in rare diseases as a percent of these is probably an even more insignificant number."