The majority of rare genetic disease patients have to simply live with their disease, as therapies that could cure or even slow down the disease progression are not available. Even when therapies are available the cost of treatment is generally very high and beyond the reach of most people in India. Drug development for rare genetic diseases requires a multi-pronged approach that includes creating patient registries, constructing natural history models of local patients, developing technology platforms, and designing novel drug molecules that are free from intellectual protection. It is important to develop our capability for manufacturing rare genetic disease drugs locally and make them available at a competitive price. There is also a need to have a conducive regulatory environment that helps to conduct clinical studies for drug approval. In addition, for each rare genetic disease, we would need clinical centres that are capable of carrying out drug trials at internationally acceptable standards.  Integrating different aspects of the rare genetic disease process in India is a challenging task partly because rare genetic diseases pose problems not seen with common diseases.

One of the major hurdles in developing advanced therapies is the lack of a clear path and guidance during the drug approval process in India. This is much more acute when rare genetic diseases are targeted.  Apart from a low number of patients that makes it difficult to plan clinical studies, the absence of robust natural history models and lack of understanding about the specific needs of rare genetic disease patients make it an uphill task to translate lab observations to patients. Knowledge of the regulatory landscape in different countries is an important learning process for drug development. For example, recent FDA approval for n of 1 type of drug trial has the potential to revolutionize the drug development and approval process.

Based on this background we plan to discuss the specific issue of initiating and carrying out clinical trials of rare disease drugs in India. 

Event Registration Link - A Discussion Meeting on Rare Genetic Disease Drug Trials