The conference brings together scientists, clinicians, industry, patient groups and regulators to discuss key issues in designing and conducting clinical trials for rare diseases in India. Clinical trials are uniquely challenging for rare diseases because of the low number of patients, which makes it difficult to plan clinical studies, the absence of robust natural history models and lack of understanding of the specific needs of rare genetic disorder patients. Sensitization and collaboration of all stakeholders can help overcome stumbling blocks in carrying out rare disease clinical trials. The aim of this conference is to produce a short guidance document that can help all stakeholders engaged in this area.