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Drug Repurposing for Rare Diseases

Posted on April 27th, 2016 by in Pharma R&D

Dr Nicolas Sireau, Findacure

Elsevier’s partnership with a UK charity Findacure started last year with a very touching and inspirational talk from Dr. Nick Sireau, a parent of two children diagnosed with alkaptonuria. Very soon after his first child was born, Nick found himself in a situation typical to anyone who has ever faced a rare disease: when not much is known about the condition, there are no ready treatment options, and very little research is done.

Nick decided to leave his job as CEO and to focus on building a rare disease community, bringing together patients, scientists and doctors, and advocating for more research being done and funded. These efforts helped to run a clinical trial for nitisinone, a compound originally developed as an herbicide which was proven to be effective against alkaptonuria. Now Nick is a co-founder and a chairman of Findacure, an organization that aims to facilitate patients groups, identify existing pharmaceuticals with therapeutic potential in rare diseases, raise funds to finance proof-of-concept trials, and provide new effective and safe treatments for rare disease patients.

When Tim Hoctor, Vice President Life Science Solutions Services, Elsevier R&D, offered Dr. Sireau and Rick Thompson, Scientific Officer, Findacure, our help, they first asked for shared access to publications about a rare disease congenital hyperinsulinism (CHI) and a generic drug (sirolimus) they had been investigating in relation to CHI.

CHI is an ultra-rare genetic disorder in which the pancreas secretes too much insulin. Excess levels of insulin result in lowered blood glucose, which can be damaging to the brain and other organs relying on glucose as fuel. The symptoms which include floppiness, shakiness, poor feedings, seizures, fits and convulsions, and if the disease in not caught early it can lead to brain injury or even be fatal. CHI occurs in approximately 1/25000 – 1/50000 births, which means that most children’s hospitals encounter only one or two cases a year.

The severity of CHI varies, and in the most severe cases the only option to stop overproduction of insulin is to remove the pancreas or a part of it, consigning the patient to a lifetime of diabetes with total dependency on external sources of insulin. Several drug therapies are available, but they are only effective in half of the patients, and therefore new approaches to combat CHI are still in high demand. And hope comes from successful results of the off-label use of sirolimus in four children with CHI, led by the group of Professor Khalid Hussain from Great Ormond Street Hospital. Findacure is now collaborating with Dr Hussain to support his study.

Tim ensured that all 70 publications about CHI from ScienceDirect will become available to Findacure and its collaborators via a library at Mendeley. He also suggested that our group of Life Science Professional Services can do a lot more than that.

Coming soon, we will unveil a series of publications about the work our team has done in collaboration with Findacure, a perfect illustration of the value that each of Elsevier’s resources and tools (including Pathway Studio, Reaxys, Scopus, Elsevier Text Mining, PharmaPendium, Mendeley and ScienceDirect) brings on its own, and the value that is amplified when all the data and capabilities behind those tools are aligned to create a comprehensive view of disease, identify repurposing candidates and build a scientific community.

Stay tuned to learn how identified potential targets, created the disease model, suggested known drugs that can be effective against CHI, and build a network of collaborations in CHI space.

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