Elsevier supports Findacure to address rare disease challenge

Elsevier is working with Findacure to identify drug repurposing candidates for congenital hyperinsulinism (CHI). Elsevier R&D Solutions will provide pro bono informatics expertise and advice, as well as access to published literature through its online tools for a period of 3 years to help researchers understand the mechanisms of the disease.

Working with Findacure and their collaborators, Elsevier will analyse and interpret data to identify existing generic pharmaceuticals with therapeutic potential for the treatment of CHI.

‘CHI is a terrible disease that greatly affects its young patients. As an ultra-rare disease, treatment options are currently very limited,’ said Dr Rick Thompson, Scientific Officer at Findacure. ‘We are excited by the opportunity that working with Elsevier gives Findacure to advance our plans in repurposing research. The benefits of this collaboration are huge. By understanding the mechanisms of a disease and demonstrating that a generic drug could have a clear healthcare benefit to that patient population, we can more easily raise funding for crucial clinical trials and uncover new low cost treatments for rare disease patients.’

Elsevier’s role in the project is to undertake an analysis of CHI’s biological pathways and structure through text mining and using its online research tools, and to analyse published literature for further insights into the disease.

This analysis will be conducted using tools such as Pathway Studio, which enables the analysis and visualisation of disease mechanisms, gene expression, and proteomics and metabolomics data, to assess CHI’s biological make up in depth. Identifying relevant information and making connections between biomedical data, clinical trials and patient-centric sources is challenging in the field of rare diseases.

For CHI, the difficulty is compounded by the fact it affects infants, a patient population on whom the availability of published literature is limited. Following this analysis, Elsevier will shortlist the most promising potential treatments that could be repurposed safely and effectively, supporting Findacure to create a strong evidence base for existing generic drugs that can be progressed to proof-of-concept Phase II clinical trials, with the ultimate aim of repurposing those drugs in the treatment of CHI.

In particular, Elsevier will conduct a deep-dive literature analysis of the drug, Sirolimus. One of Findacure’s researchers has been involved with the first off-label case studies of Sirolimus to treat cases of diffuse CHI, which has allowed newborn patients to avoid near total pancreatectomy.