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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...

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.


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