With over 95 per cent of patients suffering from inherited rare diseases having no treatment options or those available being unaffordable to many, the Indian Council of Medical Research (ICMR) has sought proposal from interested scientists to work towards affordable therapeutics for genetic rare disorders.
Inherited rare diseases are infrequently occurring disorders and have been defined by countries in terms of prevalence in their own population. As per the World Health Organisation (WHO), rare diseases are often debilitating lifelong disorders with a prevalence of 1 or less, per 1000 population.
Only 5% of inherited rare disorders have treatment among which most of the treatments are highly priced and often not available worldwide. Availability and access to medicines are important to reduce morbidity and mortality associated with rare diseases.
“Therefore, there is a need for research and development in intervention, technology transfer and indigenously manufactured therapeutics for rare diseases which could be achieved by collaborative efforts,” said an official from the ICMR giving reason for seeking such proposals.
“Also, the goal for seeking proposal is to support research and development research proposals towards developing intervention strategies on various aspects of inherited rare diseases including discovery of newer therapeutic agents and approaches, development of therapeutics including repurpose drugs, biologics, genetic error corrective measures and management to improve quality of life of patients with rare diseases such as orthopedic/ surgical approaches, innovative management protocols etc,” he added.
The ICMR has sought intervention for diseases like storage disorders, small molecule inborn errors of metabolism, primary immunodeficiency disorders (PID), neuromuscular disorders (NMD), hematological disorders (excluding Sickle cell diseases and Thalassemia) and skeletal dysplasia.
Approaches may include development of resources such as cellular and animal models, vector for genetic error corrective measures, and mechanistic aspects that are required for drug development as a part of the project, explained the officer.
To save the lives of the patients suffering from rare diseases, the Government in March, 2021 formulated the National Policy for Rare Diseases As per the amendment to this policy in May 2022, all groups of rare disease patients were assured financial assistance of ?50 lakh for treatment.
However, accessibility and availability of medicine continue to plague the sector.