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