India's first National Pompe Day was marked on 1 June 2012. This day was started in 2011 by the president of the LSDSS (Lysosomal Storage Disorder Support Society) and founder of Pompe Foundation India, Prasanna Shirol in order to raise public awareness and garner support towards this rare disease. Prasanna is the father of Nidhi who is India's first officially recorded Pompe patient. Since 2011, 1 June is being observed as National Pompe Day in India.
Pompe is a rare, genetically inherited and often fatal lysosomal storage disorder caused by the deficiency of an enzyme, acid alpha-glucosidase (GAA). The absence of this enzyme causes excessive buildup of a substance known as glycogen, a form of a sugar stored in the body's muscles. Since people with Pompe are deficient in GAA, they cannot break down glycogen and excessive glycogen attacks the skeletal muscles, tissues and heart. In the absence of enzyme replacement therapy (ERT), people with Pompe develop an enlarged heart and thickening of cardiac muscles which can eventually lead to cardiac arrest. At present, ERT is the only available treatment for Pompe in which a genetically engineered form of the GAA enzyme is infused to make up for the absent or deficient enzyme.
AdvertisementFor people and their families in India, Pompe is a living nightmare owing to the prohibitive cost of treatment and care. The cost of ERT is around 1-2 crores per annum depending on the patient's body weight. The drug Myozyme is manufactured by Genzyme, a Sanofi company. Thanks to Genzyme's Charity Acesss Program, children like Nidhi Shirol (15), daughter of Prasanna Shirol are able to access ERT. However, not all children are fortunate enough to access the free drug program and the disease is a huge financial and psychological strain on the families. National Pompe Day India is a platform and opportunity to raise public awareness on the range of issues faced by people with this rare disease in India. This day is also an opportunity to raise funds for children in need of treatment.
This year, National Pompe Day is markedly different as the focus is now on new curative therapies for the disease. In 2011, the first clinical trial of recombinant adeno-associated virus-mediated (rAAV) gene-based therapy for Pompe disease provided some hope for people living with Pompe across the world. This promising gene therapy offers much hope for people who are not responding sufficiently well to the ERT and also as a curative. On 1 June 2015, Prasanna Shirol will be announcing a fund-raising venture to sponsor clinical trials and research for Pompe disease in India. This is a significant move as this will enable faster access to clinical trials for patients in India. Patient support groups are crucial in supporting clinical trials as patient perspectives and advocacy can convince regulators. Patient support groups have also played a key role in funding research towards specific diseases.
This is the first time in India that rare disease patients and their families are taking a proactive step and leading the way to fund research and curative therapies. This fund-raising venture will enable faster research and trials for Indian patients many of whom do not have access to ERT.