The need for the development of treatments for rare diseases (RD) is urgent, yet faces multiple challenges, from drug discovery to regulation and reimbursement. Despite the low incidence of individual rare diseases, over 300 million people across the globe are collectively affected, creating an enormous unmet medical need. Yet rare disease patients continue to face an overall lack of effective treatments, with research efforts further complicated by the diversity of symptoms and genetic underpinnings of these conditions, and by the varying classification criteria for rare diseases by region.

The combination of these factors limits the pharmaceutical industry’s motivation to invest in RD research, as new drug development costs are large and unlikely to be recovered after market approval and marketing. Alternatively, repurposing approved drugs and repositioning clinical-stage drug candidates is a promising path to developing safe and effective drugs in new areas of unmet need, particularly for RD. Advances in artificial intelligence (AI) facilitate this approach by sifting through extensive data to uncover new signals that may have been previously overlooked. Whilst repurposing takes advantage of existing safety, pharmacodynamics, and pharmacokinetics information, which considerably reduces the cost of label extension to a new indication and facilitates clinical trial design, significant challenges such as regulation, data accessibility, and cost of new indication approvals, remain unresolved.

This Research Topic will cover, in depth, the pathways leading from therapeutic hypothesis to approval for drug repurposing for rare diseases, bringing together experts in the area, ideas, opinions, and empirical results. We aim to provide a comprehensive assessment that highlights opportunities and strategies, identifies challenging areas that need attention, and provides a forum for fruitful discussions among those engaged in research, policy, and patient advocacy. We welcome articles addressing, but not limited to, the following themes:
• Computational Approaches: Repurposing projects based on bioinformatics, machine learning, and artificial intelligence.
• Preclinical Studies: Research leading to novel hypotheses for drug repurposing, and evidence of efficacy of such drugs in relevant disease models.
• Clinical Trials: Studies evaluating the effectiveness of repurposed drugs in relevant patient populations.
• Regulatory Challenges: Taking the best advantage of regulatory processes, allowances, and incentives for the timely approval of repurposed drugs for rare diseases.
• The Patient Role: The crucial role of patient organizations driving all aspects of drug repurposing research

This Research Topic accepts the following article types: Case Report, Data Report, Editorial, General Commentary, Hypothesis and Theory, Methods, Mini Review, Opinion, Original Research, Perspective, Review, Technology and Code.

Topic Editor Daniela Brunner holds shares with Psychogenics Inc. The other Topic Editors declare no competing interest with regard to the Research Topic subject.

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Advances and Strategies for Drug Repurposing