When twenty-six-year-old Meryl Mammen, a resident of Vasundhara, was diagnosed with a rare genetic disease, little did she know that a cure would prove to be more rare. After spending lakhs on her treatment with not much progress, she is now ready to put herself up for a clinical trial or research -- something that is yet to pick up pace in India.
Meryl suffers from Pompe’s disease -- a condition that happens when the body cannot make a protein that breaks down complex sugar, glycogen, for energy. The disease causes muscle weakness, trouble in breathing and affects the liver, heart and muscles.
In the hope of getting better, she wants to put herself up for clinical trial. Unfortunately, there is none happening in India currently.
“There is not much information about Pompe’s disease in the country. Due to the lack of clinical trials, there are no new findings. My disease could have even been controlled had there been any research happening here,” she said.
Meryl had to bear with several misdiagnosis before doctors zeroed in on her condition, when she was 21 years old.
“At the age of 14, I got a biopsy done and was misdiagnosed with limb girdle muscle dystrophy (LGMD) and started treatment for that, but with no results. After shifting to Ghaziabad, I was told by doctors at Ganga Ram Hospital that I might have Pompe’s disease. It was only in 2011 that I got a correct diagnosis,” she says.
She says she even tried to opt for clinical trials being done for LGMD, a term used for a group of diseases that cause weakness and wasting of muscles in the arms and legs.
However, after a second biopsy, it was confirmed that Meryl was suffering from Pompe’s disease.
“The treatment for Pompe’s disease only came in India in 2010 -- a year before she was diagnosed with it. It involves enzyme replacement treatment (ERT), which costs us Rs 2.6 crore annually. This was a challenge though with some support from my office, the treatment is going on,” Shibu Mammen, Meryl’s father, who is an official at Oil and Natural Gas Corporation.
Meryl is now part of various groups to raise awareness regarding clinical trials in India. These include Lysosomal Storage Disorders Support Society (LSDSS) which works for raising awareness regarding rare diseases and Indian Society for Clinical Research (ISCR) which works towards raising awareness regarding clinical trials in India.
“There are trials happening in the other countries for Pompe’s disease. But their research includes people who are genetically different from us. I can only hope that some day a clinical trial for Pompe’s disease will start in India and I can be a part of it,” Meryl said.
The strict rules governing medical trials in India are one of the reasons why there is a lack of it here, say clinical investigators.
“Any doctor who wants to conduct a clinical trial does so in order to give something to society. However, instead of deploying inspectors to check whether clinical trials are being conducted ethically or not, the government made laws stringent and discouraged doctors from conducting clinical trials,” said Dr Shamsher Dwivedi, a clinical investigator in neurology.
If a patient wants to take part in a clinical trial, there are some ways to do so.
“The patients can first check with their doctor who might be able to guide them. They can log on to http://www.clinicaltrial.gov for trials happening globally, or on www.ctri.nic.in for trials in the country. One can put in their disease in the search box provided on these websites and find out if a clinical trial is being done or not,” said Viraj Suvarna, chairperson of the investigation council at ISCR.