Rare disease: Doctors want to give active ingredients in food

CHENNAI: After more than six years of waiting for a desi company to formulate a drug to help children fight cystinosis, a rare genetic disease, a city-based non-government organisation has sought permission from Central Drugs Standard Control Organisation to administer active ingredients of the drug directly with food.

Sapiens Foundation, which has prepared the active ingredients of the drug, Cysteamine, in association with the Indian Institute of Technology-Madras, prepared the active ingredients for the drug. The Foundation also got permission from the courts to ensure that the drug controller does not insist on clinical trials because companies may not get adequate amount of people to test the drug on. "Since it is a tested formulation it should be fine without clinical trials too," said senior nephrologist Dr Rajan Ravichandran. "But no company came forward to manufacture the drug because the demand is too little," he said.

In India, 30 children were identified with the disease across India. While eight have died, foundation imports drugs worth about 15 lakh a year for 10 of them. The remaining children are either buying medicines with their own funds or are dependent on other organisations. "We can bring down the cost to 10,000 a year if we formulate the drug in India and it will be even lesser if we merely use active ingredients," Dr Ravichandran said.

Children with cystinosis, complain of "sand in the eye" and they refuse to go out and play because their eyes are sensitive to light (photophobia). "When my son was young, we noticed he had have excessive thirst and he was frequently urinating. We had to take him to the hospital for episodes of dehydration. Tests showed he was losing nutrients through urine and his growth was getting affected," said S, mother of two. Some kids in the foundation's list have stunted growth and rickets. S says she is blessed to have been associated with the foundation, but not many are as lucky.

Although courts have said that states are responsible for providing people with such rare condition with drugs, not many patients find help.

Pharmacists say taking active ingredients directly should not cause harm. "It's like turning the clock back," said former state drug controller M Baskaran. "Until some years ago, doctors used to mix active ingredients in their counters and give it to patients. Now, it is illegal. But in extraordinary life-saving situations like this can be exceptions," he said.