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...

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.

Deadline

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.

https://hsci.harvard.edu/news/heart-research-gets-better-3d-model

https://www.nature.com/articles/s41551-018-0271-5

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.


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