For the first time in India, rare disease patient families are leading the way for funding research and development on gene therapy with hope to save their children. With no help from government or supporting healthcare policies for diseases like Pompe and Neimann-Pick, the parents of children suffering with these rare diseases have come together to fund research. Although this initiative is new in India, the European Organization for rare disease (EURORDIS) which was founded in 1997 has been actively supporting research and drug development besides raising awareness. Similarly, in United States of America not-for-profit organizations like Hannah’s Hope Fund (HHF) and National Tay-Sachs and Allied Diseases Assocation (NTSAD) have funded for gene therapy research in the recent years.
In 2011, Prasanna Shirol, father of Nidhi, India’s first officially recorded Pompe patient started the initiative of observing June 1 as Pompe Day. This was done to promote awareness about this disease and to urge the Govt to support rare disease treatment.
Pompe foundation (www.pompeindia.org) supports parents and patients of Pompe disease by easing their burden by supporting them in securing timely diagnosis, consultations, treatments, and other therapeutic measures.
Over the years, in spite of repeated request letters to various Govt departments and Health Minister offices have brought no relief. Today, on the occasion of 4th Pompe day, Pompe foundation and Neimann-Pick foundation (withaarya) announced their support to Aten Biotherapeutics to help raise funds for gene therapy for Pompe and Neimann-Pick disease.