What's New

For 16 years, the BSF Research Grant Program has strategically funded research projects to improve the scientific and medical understanding of Barth syndrome, creating a pathway towards potential therapies. The recent 2018 cycle continues to showcase that legacy, a legacy that led directly to the CARDIOMAN clinical trial in 2019 and more than 25 awards from NIH to advance research about Barth syndrome.

Since 2002, the Barth Syndrome Foundation, in consultation with its Scientific and Medical Advisory Board and with the support of the international affiliate chapters (Barth Syndrome Foundation of Canada, Barth Syndrome Trust {UK and Europe}, Association Barth France, and Association Barth Italy), has awarded a total of US $4.9 million to this important effort through 111 research grants to 65 principle investigators worldwide in order to better understand this rare X-linked genetic disease characterized by cardiomyopathy, growth delay, muscle hypoplasia, neutropenia and extreme fatigue.

BSF is very proud to share the Voice of the Patient report from the July 2018 externally-led Patient Focused Drug Development meeting. This comprehensive report truly reflects our community’s experience of being affected by Barth syndrome. We encourage you to read this and share widely! #powerupbsf #poweruppfdd

The announcement came on World Rare Disease Day, an annual global awareness initiative designed to bring attention of rare diseases to the general public and policymakers.

BOSTON and Cambridge, ENGLAND (PRWEB) February 28, 2019

Healx, a Cambridge (UK) technology company, today announced a collaboration 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.

Companies such as Healx are capitalizing 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 , 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 organizations and could revolutionize the value proposition of developing therapies in rare disease.

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 catalyzed 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 individualized support, educational conferences, a robust patient registry and collaborations with specialist healthcare providers to define standards of care, treatment and rapid diagnosis.

January 28, 2019
12pm EST (9am PST)
Presented by Cristy Balcells RN MSN & James Valentine JD MHS

This is a free informational webinar, forum and opportunity to ask questions, offered in partnership by MitoAction, UMDF, BSF and Stealth BioTherapeutics.
All are welcome.

Learn how to search, find, and participate in clinical trials for people with rare conditions such as mitochondrial disease.

Unlike trials for more common disorders, clinical trials for rare diseases present challenges as well as unique opportunities for patients living with rare conditions.

Learn more about your critical role as a patient and how you can help influence the future of mitochondrial medicine and therapeutics in 2019 and beyond.

Barth syndrome stalks young patients, weakening heart and skeletal muscles, stunting growth and shortening their lives. University of Florida Health researchers and their colleagues have now discovered a promising solution: a gene replacement therapy that delivered significant improvement in mice.

The researchers tested a trio of promoters — genetic “cues” that initiate the expression of a gene’s DNA sequence. In Barth syndrome patients, mutations in a specific gene deprive the heart and skeletal muscles of the ability to efficiently perform their highly energetic functions. One of the promoters tested, known as Des, was particularly effective at providing the necessary levels of gene expression and improving heart and skeletal muscle function in both young and adult Barth mice. The findings were published recently in an online version of the journal Human Gene Therapy.

It is the first time that a potential treatment has been shown to normalize many aspects of Barth syndrome, said Christina A. Pacak, Ph.D., a pediatrics researcher in the UF College of Medicine. Barth syndrome is a relatively rare genetic disorder that affects about one in 300,000 people worldwide, according to the National Institutes of Health. In addition to enlarging and weakening the heart and diminishing muscles used for movement, it also reduces white blood cells and patients’ height. Read more...


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