New platform aims to develop novel therapies for rare diseases

(Our Science Desk)
Researchers are working on a new platform that aims to develop several treatments, including gene and mRNA therapies, for three “rare” diseases which are estimated to affect about one million people in India. The Myo-Mission anchored by Ashoka University, Sonipat in partnership with 18 institutions and 38 investigators across India, will enhance capabilities for carrying out future clinical trials for Duchene Muscular Dystrophy, GNE Myopathy and Limb-Girdle Muscular Dystrophy (LGMD). All the three diseases either lead to muscular weakness or muscle wasting, and can cause permanent disability. “In India, estimates suggest that the three diseases combined affect about one million people. The burden of these debilitating, often incurable diseases is made greater by the rarity and lack of diagnosis and treatment options in India,” said Alok Bhattacharya, Professor of Biology at Ashoka University. “Our goal is to develop patient cohorts, create a comprehensive database, and conduct research on disease progression to pave the way for clinical trials,” Bhattacharya told PTI. In its Phase 1, the mission plans to have five clinical centres in Mumbai, Bengaluru, Chennai, Delhi and Anand in Gujarat that have been managing patients of these diseases. The mission researchers plan on different aspects such as developing systems or technology platforms for therapeutic molecules for treatment, as well as developing animal and cellular models for testing purposes. The clinical groups associated with the mission will also monitor the progression of the disease for the Indian patients, the researchers said.Such models for diseases such as GNE myopathy and LGMD have not been done for Indian patients and are required for carrying out clinical studies and drug trials, according to a statement. The mission researchers, who have applied for funding from the government, are aiming at multiple types of treatments. This is because not all types of therapies are suitable for all patients as well as different diseases, the researchers said. Availability of multiple therapies will help to provide clinical treatment to large fraction of patients, they said. The platform being proposed are gene therapy, mRNA therapy, oligo-nucleotide-based therapies and small molecules that target known or novel disease associated molecules.These technologies once developed, will also be useful for developing drugs for other diseases, according to the researchers. A substantial fraction of all rare diseases are genetic disorders that mainly get inherited from parents. Since human beings have about 25,000 genes, a mutation in a set of genes carries a disease risk.
Globally, it is estimated that there are about 7,000 types of rare diseases out of which about 80 per cent are likely to have a genetic basis. The clinical methods of diagnosis for such diseases exist, however they are often not conclusive. Usually, the final diagnosis can only take place through DNA sequencing of both parents and children, however, this method is expensive and not affordable for a large section of the population, especially in lower and middle income countries. In India, about 500 rare diseases have been identified, Bhattacharya said. The number of individuals suffering from one particular disease in the country may be small, however given the population size and number of such diseases, the overall burden is estimated to be quite large, approximately 7 crore individuals, he said.These diseases often go undiagnosed in the country due to reasons such as high cost, lack of testing infrastructure even in urban centres, and insufficient awareness even among clinicians. About 95 per cent of rare diseases do not have a treatment, and in most cases the patients have to live with extreme disability, often also leading to death beyond the age of around 20 years. For the 5 per cent of diseases that have a treatment, but not cure, the cost of treatment is extremely high. Most drugs are made abroad and their cost ranges from lakhs to crores, leaving a large section of Indian population outside the ambit of adequate healthcare. “We aim to improve awareness and access to drugs to ultimately improve the lives of millions affected,” Bhattacharya said. “We are awaiting for the government to make a decision about funding the mission,” the scientist added.