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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.

BOSTON (PRWEB)

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...


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