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BENGALURU: Nidhi Shirol, 14, is battling a rare disease, Pompe. The absence of sugar-storing enzyme in her body has made all the difference. Her family spends a whopping Rs 1 crore every year on treatment.

After having spent months on ventilator, Nidhi breathes through the tracheal tube fixed to her neck. Finally, there’s some hope for her parents as Bengaluru-based Aten Biotherapeutics is developing new therapeutics to treat Pompe with gene therapy and nanotechnology.

The research is supported by Pompe Foundation, a group of parents of children suffering from Pompe in India, and Dr Meenakshi Bhat, geneticist from the Centre for Human Genetics.

Currently, the treatment is expensive as drugs have to be imported. Prasanna Shirol, Nidhi’s father and founder-member of Pompe Foundation, says the new research will help patients suffering from rare disorders that are yet to get government aid.

"Repeated requests to the health ministry haven’t yielded any result. There’s a need to bring about awareness and support for those suffering from rare disorders," said Shirol.

Nidhi happens to be the first officially recorded Pompe patient. There are over 15 persons suffering from the disorder in Karnataka. On June 1, the foundation observed Pompe Day, to spread awareness about the disease.

Having lost their two-year-old son to Pompe in 2011, Sharanya and Venkatesh Ramdas have also been a part of the fund-raising movement to help such patients.

"There’s lack of awareness even among doctors. In my son’s case, it was diagnosed early but we lost him. We support the efforts of scientists to come up with an India-made medicine," said Venkatesh.

Dr Bhat feels low awareness in the medical community is the main cause for delay in diagnosis and treatment. "Even if diagnosed, the treatment cost is huge. The government has to pitch in," she said.

Working on therapeutics: "Aten is developing new therapeutics for Pompe based on gene therapy and nano technology. There are artificial viruses that can introduce the gene into the patient’s body which in turn can produce the missing enzyme. We are working on administering the medicine intravenously, thus improving the patient’s quality of life," said Dr Aditya Kulkarni, chief technology officer, Aten Biotherapeutics.