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2020 BSF Scientific and Medical Symposium Presentations and Abstracts

Convened on July 23-24, 2020, BSF proudly shares the full presentations, abstracts, and Q&A from our first ever virtual Scientific and Medical Symposium.

With over 160 unique views each day and composed of presenters and attendees from all across the world, this event demonstrates the global scope of the BTHS community of patients, families, researchers, and clinicians.

In addition to the research presentations, two individuals with Barth syndrome, Andrew and Cameron, shared their firsthand experience with cardiomyopathy and neutropenia, respectively. Their stories can be viewed by clicking on their images to the right, and is a testament to BSF's continued effort to make central and elevate the patient's voice.

All presentations and abstracts are viewable below, and we graciously thank all of our speakers for their willingness to share their work and progress with the broader BTHS community.

Cardiolipin & Metabolism

Thursday, July 23, 2020; 11:30 AM - 1:30 PM EDT / 17:30 - 19:30 CEST

Featuring recent advancements in cardiolipin and T cell function, plasmalogen synthesis, and the impact of small molecules dichloroacetate, and elamipretide (TAZPOWER clinical trial) in Barth syndrome metabolism, this session illustrates the basic to clinical research breadth of ongoing cardiolipin and metabolic research.

Chaired by Miriam Greenberg, Wayne State University (Watch Video)

Dynamic cardiolipin synthesis and remodeling is required for CD8+ T cell immunity - Mauro Corrado, University of Freiburg (Watch Video)

Are alkylglycerols the new "vitamins" for Barth patients? - Jose Bozelli Jr., McMaster University (Watch Video)

Targeting pyruvate dehydrogenase complex to improve Barth syndrome cardiac function  - Charles McCall, Wake Forest School of Medicine (Watch Video)

Exploratory metabolomic results from the TAZPOWER study: changes in plasma and urine metabolites in Barth syndrome subjects after 3 months treatment with elamipretide or placebo - Peter Oates, Stealth BioTherapeutics (Watch Video)

BTHS Cardiomyopathy

Thursday, July 23, 2020; 2:00 PM - 3:30 PM EDT / 20:00 - 21:30 CEST 

Focused on the Barth syndrome cardinal symptom of cardiomyopathy, this session will open with an introduction from a BTHS-affected individual, and encompass longitudinal cardiac monitoring and results, favorable outcomes of BTHS heart transplantation, and physiological and cardiac results of the recently completed TAZPOWER clinical trial in BTHS-affected individuals.

Chaired by John Jefferies, University of Tennessee

Cardiomyopathy in adolescents and adults with Barth syndrome - Carolyn Taylor, Medical University of South Carolina (Watch Video)

Favorable outcomes in heart transplantation for dilated cardiomyopathy associated with Barth syndrome - Yu Li, University of Pittsburgh (Watch Video)

Elamipretide in patients with Barth syndrome: A randomized, double-blind, placebo controlled clinical trial followed by 36-week open label extension - Hilary Vernon & Reid Thompson, Johns Hopkins University School of Medicine (Watch Video)

Pathophysiology of BTHS

Friday, July 24, 2020; 11:30 AM - 1:30PM EDT / 17:30 - 19:30 CEST

Demonstrating the broad scope of Barth syndrome research, this session features presentations involving Drosophila and exercise intolerance, calcium uptake and arrhythmia findings in the tafazzin knockdown mouse model, mitochondrial stress, prenatal antioxidant findings, and gene replacement therapy proof-of-concept results in the tafazzin knockout mouse model (TAZKO).

Chaired by Bill Pu, Boston Children's Hospital

Muscle-specific expression of tafazzin or spargel (PGC1-alpha) restores exercise tolerance in a Drosophila model of Barth syndrome - Deena Damschroder, Wayne State University (Watch Video)

Defective mitochondrial calcium uptake underlies arrhythmias in Barth syndrome - Christoph Maack, University Clinic Wuerzburg (Watch Video)

Prenatal antioxidant therapy in a tafazzin knockout mouse model of Barth syndrome - Colin Phoon, New York University (Watch Video)

AAV gene therapy prevents and reverses heart failure in a murine knockout model of Barth syndrome - Suya Wang, Boston Children's Hospital (Watch Video)

Neutropenia in BTHS

Friday, July 24, 2020; 2:00 PM - 3:30 PM EDT / 20:00 - 21:30 CEST

As neutropenia is also a cardinal symptom of Barth syndrome, this session will be opened by an affected individual, followed by presentations in impaired TAZKO hematopoietic stem cell function, TAZKO neutrophil progenitors, and protein levels, metabolism, and effector functions of neutrophils isolated from affected individuals.

Chaired by Mindong Ren, New York University

Defects in hematopoietic stem cell function in a mouse model of Barth syndrome - Christopher Park, New York University (Watch Video)

Neutropenia in Barth syndrome: Endoplasmic reticulum stress and an increased sensitivity to apoptosis - David Sykes, Massachusetts General Hospital (Watch Video)

Neutrophil dysfunction and dysregulation in Barth syndrome - Chris Rice, University of Bristol (Watch Video)

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