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Healx pushing new drug development model in rare diseases with Barth Syndrome Foundation

28 February 2019   |  
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Boston, MA and Cambridge, UK – February 28, 2019 – Healx (healx.ai), a Cambridge (UK) technology company, today announced a partnership with Boston Children’s Hospital and Barth Syndrome Foundation (BSF) to advance promising therapeutic compounds using a novel approach that will accelerate drug discovery for applications in Barth syndrome, a life-threatening, genetic mitochondrial disease. The announcement comes on World Rare Disease Day, an annual global awareness initiative designed to bring attention of rare diseases to the general public and policymakers.


Companies such as Healx are capitalising on advances in artificial intelligence (AI) and merging technology with new findings in science to overcome the financial and time challenges to develop therapies in rare diseases. “We have to consider alternatives to the traditional drug discovery model,” said Dr. Tim Guilliams, CEO and co-founder, Healx. “Rare disease patients simply cannot rely on the traditional drug development process which doesn’t work in a timely fashion for such complex, commonly fatal diseases in niche patient populations.”


Barth syndrome can present with symptoms including, among other characteristics, skeletal and cardiac muscle weakness and potentially fatal arrhythmias. It is among the more than 7,000 rare diseases jointly affecting over 350 million people globally. But with R&D estimates ranging from $648 million to upwards of $2 billion for a therapy to reach the market[1], developing therapies that stand to benefit only a handful of people means most never make it out of the gate. “The R&D cost to develop effective treatments for a condition that affects less than 0.00000004% of the world population, such as Barth syndrome, is not something that appeals to the traditional economics of the drug development industry,” said Dr. Guilliams.


Healx is disrupting the status quo through a new technological approach and strategic partnerships with patient groups and leading academic researchers. It aims to reduce the time to get new drugs into the clinic to two years, from a decade or more. Barth syndrome is one of the rare diseases in the Healx pipeline. Working with Dr. William Pu, a world-renowned cardiologist at Boston Children’s Hospital, Healx will pair their predictions with Pu’s induced pluripotent stem cell-derived cardiomyocyte (iPSC-CM) models of Barth syndrome to improve cell function. The goal is to identify one or two compounds to advance into in-vivo development that will accelerate development of treatments. “It would potentially take decades to accomplish what we can learn in a year or two through this innovative approach,” said Emily Milligan, Executive Director of BSF.


Using Pu’s technology, compounds are tested on iPSC-CM cells and mRNA analysis is used to determine effectiveness, a process that could potentially translate into clinical benefit for people with Barth syndrome. Pu believes, “This is a potentially replicable model of drug development for rare diseases that holds great promise, not only for Barth syndrome but for many other conditions which currently have no approved therapies, and no current hope for therapies on the horizon.”


While clinical trials are still a few years away, the collaboration highlights the potential benefits of a multi-sector approach to drug discovery through collaborations across private industry, academia, and patient advocacy organisations and could revolutionise the value proposition of developing therapies in rare disease.

[1] https://www.forbes.com/sites/matthewherper/2017/10/16/the-cost-of-developing-drugs-is-insane-a-paper-that-argued-otherwise-was-insanely-bad/#542411fa2d45


About Healx

Healx is a tech company from the Cambridge Cluster (UK), focused on accelerating treatments for rare diseases. It integrates artificial intelligence with deep pharmacology to translate therapies into the clinic within 24 months, thereby dramatically reducing the time and cost compared to conventional drug discovery.

To achieve this goal, Healx developed the most comprehensive AI-based drug discovery platform for rare diseases: Healnet, with the objective to translate 100 rare disease treatments towards the clinic by 2025.


About Barth Syndrome Foundation (BSF)

Barth Syndrome Foundation (barthsyndrome.org) is the only global network of families, healthcare providers, and researchers solely driven by the mission to save lives through education, advances in treatment and finding a cure for Barth syndrome. BSF has funded nearly $4.9M USD since 2002 and catalysed over $21M USD in funding from other agencies to advance global scientific discoveries to end the suffering and loss of life from Barth syndrome. Additionally, BSF provides a lifeline to families and individuals living with Barth syndrome around the world, offering 24/7 individualised support, educational conferences, a robust patient registry and collaborations with specialist healthcare providers to define standards of care, treatment and rapid diagnosis.


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