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

Würzburg scientists identify missing mitochondrial calcium channel as trigger for arrhythmias and heart failure for the disease Barth syndrome. Click the title above to read more.

On November 8, 2021, Dr. Colin Steward (Emeritus, U. Bristol), Dr. Guido Pieles (U. Bristol), Dr. Barney Reeves and Lucy Dabner (Bristol Trials Centre) discussed the research basis, findings, challenges, and successes for the UK-based CARDIOMAN trial. Sponsored by the UK National Institute for Health Research, co-funded by BSF, informed, designed, and led by long-time academic research leaders in our field, and ultimately made possible by the initial participation of eleven affected individuals - this nearly 8-year effort encapsulates the adage that it takes a village.

BSF's Executive Director, Emily Milligan, wrote to Stealth BioTherapeuitic's leadership after the FDA refused to file the NDA for elamipretide. To read the full letter, click the title above.

BSF's Board Chair, Kate McCurdy, recently wrote to leadership at the US Food and Drug Administration (FDA) regarding the FDA's refusal to file Stealth BioTherapeutics' NDA for elamipretide. Click the title above to read the full letter.

We were honored to participate in the EveryLife Foundation’s prestigious 13th Annual Rare Disease Scientific Workshop on October 21, 2021-- the same day that we learned that the FDA had refused to review Stealth BioTherapeutics’ New Drug Application (NDA) for elamipretide in Barth syndrome. BSF’s Executive Director, Emily Milligan, gave a highly relevant and impactful 10-minute talk regarding suggestions she has resulting from our community’s experience with the regulatory process for elamipretide.

The Barth Syndrome Foundation (BSF) is deeply disappointed by the US Food and Drug Administration’s (FDA) refusal to file Stealth BioTherapeutics’ (Stealth) submission of a New Drug Application (NDA) for elamipretide as a treatment for those living with Barth syndrome.

While the decision is a setback for the Barth syndrome community, we recognize...

Members of the Barth syndrome community:

August 2021 saw the achievement of a shared milestone – the first submission of a new drug application for elamipretide by our team at Stealth, representing the first new drug application for any investigational product for Barth syndrome. This was a Herculean effort...

Fatigue and endurance remain critical challenges for our community of affected individuals. On September 24, 2021, Dr. Todd Cade (Duke U.) joined us for a conversation on the role and impact of resistance training in ameliorating these issues. We invited study participants as well as affected individuals that have engaged in resistance training resources and efforts to discuss their firsthand experience with this therapy.

Inconsistencies in the FDA’s approach to operationalizing the 21st Century Cures Act stand to treat individuals with Barth syndrome qualitatively differently from those with other diseases, such as Alzheimer’s, and points to a critical need for consistent application of patient perspectives in the review process across agency divisions and regulators.

The Severe Chronic Neutropenia International Registry (SCNIR or Registry) maintains a database on the infectious complications and other serious health events for patients enrolled in the Registry. Since the epidemic began in February 2020, 15 patients with positive antibody tests have reported to the Seattle office about their illness and complications. Most of the cases occurred between February 2020 and February 2021, with the highest frequency in September to November 2020. The age range was broad, 2-62 years; the average was 29 years. There were 9 females and 8 males.

The 2022 grant cycle is now open, and Barth Syndrome Foundation (BSF) and our International Affiliates welcome innovative applications that address the basic, translational, and clinical research challenges of Barth syndrome. Through this program, BSF seeks to provide seed grant funding to young and established investigators in order to generate the preliminary data...

We learned during the 2018 Patient-focused Drug Development (PFDD) meeting of the universal and debilitating impact of fatigue on our affected individuals. To directly address this issue, in 2021 BSF has awarded Dr. Stacey Reynolds (VCU) a grant to better understand what it means to be ‘Barth Tired’. 2021 also saw BSF’s first ever co-funding partnership with the American Heart Association (AHA). Marking a strategic investment by BSF to broaden our research impact...

BSF, in partnership with Project Sunshine, brought a unique opportunity to the Barth syndrome community. Project Sunshine’s mission is simple: Bringing joy and play to pediatric patients. On July 26th, we launched the Project Sunshine Teleplay program for our younger affected individuals and siblings, with 15 youth in attendance. Teleplay offers engaging and educational virtual play...

More than 600 advocates from 250 patient organizations came together virtually for Rare Disease Week on Capitol Hill that took place July 14-22, 2021. Shelley Bowen, BSF’s Director of Family Services and Advocacy, was among those voices advocating for the Barth syndrome and other rare disease communities.  "It's important to step up, show up and speak up with peer advocacy groups...”

Dr. Stacey Reynolds from Virginia Commonwealth University is conducting a research study examining fatigue in Barth Syndrome. She will be looking at how fatigue in individuals with Barth Syndrome impacts daily routines and roles. She is asking for individuals with Barth, and their family and close friends to participate in interviews and focus groups via Zoom.

BOSTON (PRWEB) JUNE 1, 2021, Barth Syndrome Foundation (BSF) and American Heart Association (AHA) have co-funded a first-ever, two-year postdoctoral fellowship to advance research around cardiac complications associated with Barth syndrome, a rare, life-threatening, mitochondrial disease. The AHA/BSF fellowship award goes to Dr. Nanami Senoo, a postdoctoral fellow and member of the Mitochondrial Phospholipid Research Center at Johns Hopkins University. Under the jointly funded fellowship, Dr. Senoo will explore the relationship between cardiolipin and the nucleotide transporter ANT1 and potential implications to individuals with Barth syndrome. This important collaboration between the AHA and BSF marks a strategic investment by BSF to broaden its impact by joining forces to accelerate progress through science and education.

Barth Syndrome Foundation is proud to launch the 2021 Barth Webinar series with a presentation and discussion with Brian J. Boyarsky, MD, PhD. He will discuss his team’s ongoing and recently published efforts to assess how well an immune response is generated, or the immunogenicity, of mRNA-based COVID vaccines (Pfizer/BioNTech and Moderna) in solid organ transplant recipients. Dr. Boyarsky's timely and relevant COVID-19 research has been recognized by the White House, published in JAMA, and featured on Fox News. This effort is of immense interest...

Despite the documented and suspected cases of tragic sudden cardiac death due to arrhythmia experienced by our community, limited information is available about the risk factors that predispose an affected individual to these life-threatening events. Utilizing the Barth Syndrome Patient Registry and involving on-site conference research participation by our affected individuals...

We want to thank all of the people who volunteer for BSF, including the diverse group of leaders who serve a maximum of three 3-year terms on BSF’s Board of Directors!  

David Axelrod, MD and Matt Blumenthal, JD are stepping down from our Board this month, after each serving for an incredibly active and important period in BSF history – David for nine years and Matt for six years. David and Matt also are unique in that they were the first people...

Each year, a boy with Barth syndrome helps to raise awareness and funds at a New York Islanders Hockey game. Usually, the young man gets to drop the puck, meet the team, and ride the Zamboni! While the pandemic prevented our live participation this year, we are grateful to the Islanders for continuing to support BSF at the April 9th game. Listen to the "Hockey with a Heart" interview with BSF volunteer Steve McCurdy here.

Today is an important milestone in BSF’s advocacy journey. Ten individuals from the Barth syndrome community are speaking directly to FDA in a closed listening session to share perspectives on access to effective treatments for Barth syndrome. While today’s session is not open to the public, we intend to share insights gained from this important meeting later this month...

Impaired and limited metabolism is a central feature of Barth syndrome, with implications in how our affected individuals eat, sleep, and function. A key challenge in our field is understanding how a dysfunctional enzyme (tafazzin, TAZ) and its abnormal lipid product (cardiolipin, CL) results in altered metabolism. Although much has been impacted by COVID, our research community...

TREND analyzed the BSF Facebook group and listserv for the report to construct this report detailing patient and caregiver perspectives.
Industry stakeholders can use this data to: establish disease natural history, identify unmet therapeutic needs, understand quality of life issues, design better clinical trials, and build cases for patient-centered regulatory approvals.
Community members will find the data useful to advocate, inform medical and support teams, educate family members, catalyze research, and spread awareness.
Click the image to access the full report.

Join BSF for an upcoming webinar, "Potential role of Entresto (sacubitril/valsartan) in Barth syndrome cardiac management", with Dr. John Jefferies (University of Tennessee Health Sciences Center) on February 19th, 2020 at 4:00 PM EDT.
In this webinar, Dr. Jefferies will educate the audience on the current indications for the use of Entresto in heart failure populations, discuss cardiovascular pathophysiology that occurs in patients with Barth syndrome, and review potential clinical and research opportunities for the use of Entresto in the Barth syndrome population.
This webinar is appropriate for families and caregivers of individuals with Barth syndrome as well as healthcare providers. All are welcome. Please click the title to register and receive additional webinar details.

Read the special feature article in the Autumn 2019 Gene Therapy edition of Rare Revolution Magazine. Driven by a community committed to finding a cure for Barth syndrome and two decades of research, the potential for realization of gene therapy for Barth syndrome - and the complexities of making it work - are at the forefront of the organization's mission today.

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.

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, 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. BSF will consider any research proposal related to Barth syndrome.

Mitochondrial Disease News

The Barth Syndrome Foundation (BSF) and the Barth Syndrome UK announced the start of the CARDIOMAN clinical trial evaluating whether bezafibrate, a cholesterol medicine, can treat boys and men with a rare mitochondrial disease called Barth syndrome.

The trial is running in Bristol, England, and was made possible by a joint effort of academic centers and organizations in the U.K. and abroad. It expects to conclude in December, and is recruiting patients ages 6 and older.

BRISTOL, England (PRWEB) July 24, 2019

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.

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

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

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.

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