October is Health Literacy Month, and BSF is committed to support affected individuals and their families in expanding their health literacy. “Personal health literacy is the degree to which individuals have the ability to find, understand, and use information and services to inform health-related decisions and actions for themselves and others,” (CDC, 2020). The focus is on using health information rather than...
Disability is often viewed as a condition observable at a distance without any interaction, like someone using a wheelchair, a cane, or other assistive devices. Out of the 26 million Americans who have a severe disability, only 26% use an assistive device. The remaining majority have very little or no visual indications of disability, requiring intentional disclosure to bring awareness of their disabilities.
Conversations around disability are necessary to not only advance access and inclusion for people with disabilities, like Barth syndrome, but empower...
The Barth Syndrome Foundation (BSF), including BSF representatives as well as key clinical disease leaders, held an important workshop with Dr. Norman Stockbridge (Director of the Division of Cardiology and Nephrology in CDER at the FDA) and over 30 other representatives of different FDA centers, offices, and divisions on July 29, 2022. The stated purpose of this workshop was...
Like the falling leaves in September each year, many Barth parents visit their sons’ teachers and peers to explain what it is like to live with Barth Syndrome. BSF Board Member, Florence Mannes, is one of those parents. However, as her son, Raphaël, got older, he expressed interest in explaining Barth syndrome himself to his peers, but he wanted some...
The National Neutropenia Network and the Barth Syndrome Foundation will be hosting a neutropenia educational series for the next four months. We invite you to join us as we learn about neutropenia from experts who will focus on the specific concerns patients and parents have expressed about living with or raising a child who suffers with this...
We at BSF express our heartfelt gratitude to Bryan D, Steven G and Walker B for recently meeting with legislators in their home States. All three volunteer ambassadors participated in a national campaign for better U.S. Food and Drug Administration (FDA) review processes for ultra-rare indications, like Barth syndrome.
Efforts by Bryan, Steve, and Walker were focused on greater transparency and...
Boston, June 15, 2022 - Stealth BioTherapeutics (Stealth) announced yesterday that the U.S. Food and Drug Administration (FDA) has granted the company a meeting to discuss a possible new drug application (NDA) for elamipretide as a potential treatment for Barth syndrome. The company intends to present new data collected during the Open Label Extension (OLE) period.
The two-part Journal of Inherited Metabolic Disease (JIMD) podcast accompanying the Barth syndrome special issue of the journal is now available....
The Barth Syndrome Foundation, Inc. (BSF) is pleased to announce The Branagh Family will be holding a weeklong awareness and fundraising campaign benefiting Barth Syndrome Foundation May 9-15, 2022.
The campaign is called Happy Heart Week (HHW), and was started 10 years ago after...
Our research community continues to make strides in advancing Barth syndrome science and medicine. And we invite you to join the presenters below for their selected abstracts featured in this year’s agenda!
Once again, the NY Islanders who have been a long time supporter of BSF and our mission, agreed to honor BSF and a representative of the Barth syndrome community - 5 year-old Thomas - at their March 19th game against the Dallas Stars. As every Barth family knows...
#StrongerTogether was our theme for the 2022 International Barth Syndrome Scientific, Medical, and Family Conference. COVID-19 dampened our ambitions to come together in Florida for the Conference, yet we continue to believe that We Are #StrongerTogether. The BSF Community never, ever gives up on our ideals, so we are hitting the road to be #StrongerTogether around the globe.
Barth syndrome, unfortunately, is one of the more than 6,500 rare diseases without an approved therapy. As the only organization globally representing the Barth syndrome community, BSF has been on the front lines with the FDA, advocating for effective, fair...
Barth Syndrome Foundation (BSF) is seeking abstracts for our second Scientific & Medical (SciMed) Virtual Symposium and welcome submissions in Barth syndrome discovery science...
We are pleased to announce that we are now a participating organization of The Research Acceleration and Innovation Network (TRAIN), a FasterCures...
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.
