News and Press Releases

If you want to be in the know about what’s going on at our organization, you’ve come to the right place.

Be sure to check back regularly to get our latest news updates.

WE HAVE A $10K MATCH! Please, show your support so BSF can expand support resources for #BarthFamilies, attract researchers to advance science around gene therapy, enzyme replacement, and the use of existing drugs to treat Barth syndrome, collaborate with FDA and industry to bring about more clinical trials in Barth syndrome and improve tools for the 2020 BSF International Conference. Every gift of any amount counts toward the match and helps us reach our goal by August 15! #Breakthroughs4Barth #POWERUPBSF

The BSF 2018 annual report has been published. We made tremendous strides as a community in 2018. Please take time to read and then take time to SHARE the great work BSF is doing including collaborations in research, successful clinical trials and family services. To our beloved supporters and #BarthFamilies, thank you for your ongoing support.

The Human Tafazzin Gene Variants Database has been updated. Note that there are separate tabs for Pathogenic/Likely Pathogenic, Variants of Unknown Significance (VUS), Benign.

Barth Syndrome Foundation finds encouragement in Stealth BioTherapeutics' recent published findings from the Phase 2/3 TAZPOWER OLE study that investigational drug elamipretide may improve functional activity and quality of life in individuals with the rare, life-threatening mitochondrial disease Barth syndrome. Findings from the clinical trial were shared this week at the MDA meeting in Orlando, Fl.

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 ( 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...

Part of BSF's mission is to encourage research and researchers to better understand Barth syndrome and to help discover and clinically test specific treatments or find a cure. The BSF Research Grant Program has been doing this since 2002 by offering "seed" grants to researchers with the hope that the results from these seed grants will garner additional support from major funding institutions like the National Institutes of Health (NIH) and others. The list of funding opportunities is compiled to help our research community members advance towards our common goal.

Barth Syndrome Journal Volume 18 Issue 2

Thanks to you, BSF achieved the distinction of being a Great Nonprofit in 2018 for the 7th year in a row!

There is no greater means to demonstrate the value of what we do than through the words of those we serve. Your voice matters! Thank you for sharing your stories to elevate our mission. #PowerUpPBSF

Please share these testimonials with friends!

The Barth Syndrome Foundation, Inc. (BSF) and its international affiliates announce the availability of funding for basic science and clinical research on the natural history, biochemical basis, and treatment of Barth syndrome. There are two basic categories: IDEA grants for 1-2 years and DEVELOPMENT grants for 2-3 years with budgetary maximums of US $50,000 or $100,000, respectively. Although BSF will consider any research proposal related to Barth syndrome, it is particularly interested in supporting research in the areas identified by REQUEST FOR APPLICATIONS (RFAs) that are posted on its website. RFAs for work in clinical/scientific areas that BSF considers to be high priority areas of investigation may have increased budgetary maximums and other requirements (see the BSF website for details about any RFAs). Applications responding to RFAs will be given preferential consideration in the BSF Research Grant Program.

BSF's Research Grant Program now requires all applicants to be independent investigators (e.g., faculty appointment). Postdoctoral fellows cannot apply. BSF allows young, non-tenured investigators to include in their submitted budget up to 75% of the total grant amount as PI salary. In addition, for those clinical applications where volunteers must travel to a clinical research site, these travel expenses will be handled separately and will be excluded from the budget maximums mentioned above. We encourage independent investigators at all professional levels to submit their best ideas. There are no geographical limitations to this funding.


The deadline for submission of the completed research grant application is October 31, 2018, and grants will be awarded in late February, 2019. The deadline for the one-page "Letter of Intent," if applicable, is September 21, 2018.

William Blair, an investment bank and asset management firm based in Chicago, ran a short feature about Barth Syndrome Foundation (BSF) in their quarterly newsletter, Client Focus. The recent issue was recently released and highlights BSF connecting affected individuals around the world and their families to create a virtual community and supportive environment of those living with Barth syndrome. It’s a beautiful testament about the power of community, near and far, made possible through social media.

Alignment around a cause is the most enduring and powerful level of alignment. As Steve McCurdy was telling me about the most recent Barth Syndrome Foundation (BSF) conference, the power of a compelling cause to make people put aside any petty jealousies and conflicts was clear. This permeates everything about BSF from its strategy and culture to organization and ecosystem and what they do. Learn more...

Multi-scale Modeling of Inherited Pediatric Cardiomyopathies

William Pu, MD, a Scientific and Medical Advisory Board member of BSF and Kit Parker, PhD are Principal Faculty members at the Harvard Stem Cell Institute (HSCI), and they have joined together to make laboratory heart models more physiologically relevant to patients with heart disease. Barth syndrome is one of the three heart disease models chosen to be developed. Drs. Parker and Pu are collaborating using a prestigious Research Project Cooperative Agreement from the NIH (“Multi-scale modeling of inherited pediatric cardiomyopathies”—UG3HL141798) to make a 3-dimensional actively-beating model of the heart ventricle using induced pluripotent stem cells as starting material. This work continues the “heart on a chip” model that both researchers published upon in 2014. Congratulations to both Drs. Parker and Pu for receiving this prestigious NIH award! Their proof-of-concept study of the technology has just been published in Nature Biomedical Engineering, and disease models, including Barth syndrome, based on patient cells are in the works.

Are you participating in the TAZPOWER trial using Barth syndrome treatment injections developed by Stealth BioTherapeutics? If so, you and your caregiver or someone close to you are invited to participate in another study sponsored by Stealth.

This is a quick, in-home study that gives people with Barth syndrome and their caregivers/observers the opportunity to explain any ways in which patient functioning and lifestyle may have changed during the TAZPOWER trial in their own words. Patients and their caregivers/observers will simply download an app on their phone and use that app to video record an interview about the way patients felt and functioned during the trial. The answers provided will be combined with the data captured during the trial to develop a full picture of the treatment’s impact on the patients’ lives.

The following is a summary of a live presentation offered to the Barth syndrome patient and family community on March 21, 2018. Stealth BioTherapeutics’ CEO Reenie McCarthy and Chief Clinical Development Officer Jim Carr, Pharm.D., presented an update on Stealth’s clinical trials in mitochondrial disorders and Barth syndrome and answered questions from the community.

This summary and the content within is provided for reference purposes and for the intended audience only. Such reproductions and copies are authorized only when provided directly to the intended audience recipient by Stealth. This summary and the content within does not intend to provide or substitute for medical advice. Please seek the advice of your physician about treatments which may be appropriate for you or your family member.

Volume 18, Issue 1 of the Barth Syndrome Journal is now available online for download.

BSF is pleased to announce that the agenda for the Family Sessions of the 9th International Scientific, Medical & Family Conference is now available online.

BSF is pleased to announce that the agenda for the Science & Medicine Sessions of the 9th International Scientific, Medical & Family Conference is now available online.

In BSF's 2017 Annual Report, you will find the myriad ways in which your donations benefit Barth syndrome patients and families throughout the world.

In 2017, BSF reached a milestone when we awarded our 100th research grant. To date, the Foundation has awarded grants totaling $4.5 million. This dollar amount, however, pales in comparison to the volume of follow-on funding that has been generated from our “seed donations.” For example, on page 7, you will read that Dr. William Pu was recently awarded an R01 grant from the National Heart, Lung, and Blood Institute that effectively quintupled BSF’s initial donation for his research.

The year 2017 marked the Barth syndrome community’s entrance into the realm of clinical trials. In April, BSF began involvement in its first pharmaceutical clinical trial, called TAZPOWER. This trial, for the compound Elamipretide, is expected to be completed within the next year. A second clinical trial – the CARDIOMAN study for the pharmaceutical Bezafibrate – is anticipated to begin in the United Kingdom soon (see page 6).

Shelley Bowen’s tireless efforts to spread awareness and to educate Barth syndrome

The deadline for Poster abstract submissions to the 9th International Scientific, Medical & Family Conference on Barth Syndrome is May 15, 2018. Scholarship applications and Poster travel stipend applications are also due on May 15, 2018. If you are interested in attending, please contact Matthew Toth, PhD, BSF Science Director ( for more information. Please remember that four poster presenters will be chosen to speak at the Friday sessions of SciMed.

This database includes mutations and variants even when they are repeated. However, they must be present in unrelated families. The aim is to provide information to physicians as to whether or not a mutation found in a patient has been seen before in other affected individuals. The database is also used by researchers. Mutations and variants listed come from the literature, from direct submission by laboratories, and from direct submission by affected families. Pathogenicity of many of the mutations is confirmed by monolysocardiolipin/cardiolipin assay; mRNA study has characterized some of the splicing variants; large evolutionary alignments provide information about amino acid conservation; family information regarding de novo mutations is included; the functional effects of human TAZ mutations modeled in yeast are included. There are links to the PubMed abstracts of references.

The Barth Syndrome Foundation recently announced awardees from its 2017 grant cycle. Miriam Greenberg, Ph.D., professor of biological sciences in the College of Liberal Arts and Sciences at Wayne State University and a resident of Ann Arbor, Michigan, received a one-year, $50,000 grant for the project, "Cardiolipin activates pyruvate dehydrogenase (PDH) - a potential new target for treatment of Barth syndrome."

...Greenberg and her team will test the hypothesis that cardiolipin (CL) deficiency results in a deviation of the metabolic pathway for energy production, specifically due to decreased activity of the enzyme pyruvate dehydrogenase (PDH).

"We aim to reveal a new direction for BTHS treatment based on activation of PDH and/or supplementation of deficient metabolites," said Greenberg. "The outcome of our study may reveal a new direction for Barth syndrome treatment based on activation of PDH and/or supplementation of deficient metabolites."

With the completion of the 2017 Barth Syndrome Foundation (BSF) Research Grant Cycle, 16 annual award cycles have committed a total of US $4.5 million to this important effort through 104 research grants to 60 principal investigators around the world. As with all BSF grant cycles, the projects from the 2017 cycle that were accepted by BSF were actually awarded the following year, thus being included in 2018 fiscal year expenses. BSF, with the advice of its international Scientific and Medical Advisory Board, and with support from international affiliates, awarded four research projects. BSF is very happy to be able to support these grant recipients.

Steve McCurdy, the Co-Founder and Chairman of the Barth Syndrome Foundation, speaks with Shannon Hogan and explains what Barth Syndrome is.

A young Genesee County teen born with a rare genetic condition will be a special guest at an upcoming NHL game. Devin, a 13-year-old boy from Burton, was born with Barth syndrome. The genetic condition affects about 200 people worldwide. The disease causes an enlarged and weakened heart, muscle weakness, recurrent infections, and small stature, and frequently results in fatal infection or heart failure by age three. Devin underwent a successful heart transplant at 9-weeks-old.

The New York Islanders will host the Detroit Red Wings on Friday, Feb. 9 at their second "Barth Night" hosted by the New York Islanders, where hockey fans will learn about Barth syndrome and how they can help. Devin will get to ride the Zamboni and drop the ceremonial puck. He'll also be featured in a video shown on the scoreboard during the game.

"Devin absolutely LOVES hockey," said Nicole, Devin's mother. "He can't play due to his Barth syndrome, but he loves to watch and talk about hockey. This game is all he's talked about for weeks."

Devin's family and friends are hosting a watch party at Sharky's Sports Bar in Burton beginning at 6:30 p.m. Tickets are just $10 and include pizza and pop. Proceeds will go to the Barth Syndrome Foundation.

REGISTER NOW for BSF’s 9th International Scientific, Medical & Family Conference, "Power Up!," scheduled for July 16-21, 2018, in Clearwater Beach, Florida. This will again be the world's largest gathering of Barth syndrome researchers, clinicians and families.

ALL attendees must register with BSF.

This conference brings affected families, research scientists, and clinicians together in one place at one time for a dual track meeting. The Barth Syndrome Foundation and our affiliates in Canada, France, Italy, and the United Kingdom firmly believe that while each of these groups can make some progress in their individual efforts, together, we are so much more powerful.

Don't miss out on this important event. Follow the link to REGISTER NOW! The link to make hotel reservations is also on the page. Book early to secure your sleeping room!

We look forward to seeing everyone in July!

The Barth Syndrome Foundation is soliciting speaker abstracts for the Scientific and Medical Sessions of the 9th International Scientific, Medical & Family Conference on Barth Syndrome to be held on July 16-21, 2018 at the Hilton Clearwater Beach Resort, Clearwater Beach, Florida. The SciMed sessions will take place on Thursday and Friday, July 19th and 20th, and presentations should cover clinical and scientific areas directly related to Barth syndrome. Invited speakers will have ~ 30 minutes to present. The deadline for Speaker Abstract submission is March 1, 2018.

The Barth Syndrome Foundation 2018 Scientific and Medical Conference Organizing Committee (COC), comprised of members of the Barth Syndrome Foundation International Scientific & Medical Advisory Board, invites the submission of abstracts for poster presentations related to the scientific and/or clinical aspects of Barth syndrome. The deadline for Poster Abstract submission is May 15, 2018.

The Barth Syndrome Foundation offers a limited number of travel scholarships for qualifying physicians, clinical residents/ fellows/students, nurses, and other allied health professionals to help defray the cost of attending the 2018 Conference. This program is designed to encourage medical practitioners to increase their knowledge about and improve their care of Barth syndrome individuals. The deadline for Scholarship Application submission is May 15, 2018.

The Barth Syndrome Journal Volume 17 Issue 2 is now available online.

Clinical Aspects (Hilary Vernon, MD), Cardiolipin (Michael Schlame, MD), and Molecular Physiology of Barth Syndrome (William T. Pu, PhD)

It is estimated that fewer than 10 patients are diagnosed with Barth Syndrome (BS) in the US every year. Abnormalities of CL have been linked to many common diseases, however BS remains the only mendelian disorder. This X-linked disorder is caused by pathogenic variants among the tafazzin (TAZ) gene. Among various clinically significant findings from three research labs focused on BS, Michael Schlame’s lab found the drug Resveratrol (RSV) able to stabilize cardiolipin (CL) in BS patients. RSV has also been known to improve fatty acid oxidation and respiratory chain defects. Research presented by William Pu further suggested that excess ROS generated in BS could describe calcium abnormalities that relate to cardiomyopathy/arrhythmias frequently observed in patients. Notable research presented by Hilary Vernon included vast biochemical analysis, such as how CL levels serves as a significant indicator of phenotype severity. The combined ideas represent a comprehensive review in which BS may present, further offering various promising methods of treatment and diagnosis. An overarching idea found from BS research explains how chemical equilibrium ultimately regulates what inside a cell is made. Specific examples include CL levels, phospholipid stability, etc. Presenter Michael Schlame elaborated on this finding, concluding his research efforts reject the theory behind enzyme supplementation therapy. Notable explanation for this theory followed how when fundamental equilibrium within relative cellular processes is not ideal, an unstable structure will be unable to respond appropriately to supplementation.

By Angela Corcelli, PhD, Professor of Physiology, Department of Basic Medical Sciences, Neurosciences and Sensory Organs, University of Bari Aldo Moro, Bari, Italy

Differently from the previous meetings, this time I shared the responsibility of the meeting organization not only with Michael Schlame (NY) and Simona Lobasso (Bari), but also with Peter Buetikofer professor in Bern. Peter is strongly interested in cardiolipin and its role in Trypanosoma brucei, the human parasite responsible for African trypanosomes, or sleeping sickness. The parasite is carried by the tsetse fly in sub-Saharan Africa.

About the location of this edition, as said before the choice of Martina Franca was made by taking in consideration the beauty of the town and of the country around and also in the light of passion of my friend Michael for the donkeys of Martina Franca, kind of mascot. I personally found the town very charming.

In this meeting, various aspects of physiopathology of different tissues and organs have been considered and examined through a kind of filter that allows to highlight the role of lipids in cell physiology.

Stealth BioTherapeutics (Stealth), a clinical-stage biopharmaceutical company developing therapeutics to treat mitochondrial dysfunction, today announced that the U.S. Food and Drug Administration's (FDA) Office of Orphan Products Development (OOPD) has granted Orphan Drug Designation to Stealth's investigational drug candidate, elamipretide, for the treatment of patients with primary mitochondrial myopathy (PMM).

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