2020 BSF Scientific and Medical Symposium
The Barth Syndrome Foundation will convene its first ever virtual Scientific and Medical Symposium on July 23-24, 2020. The symposium is free and open to researchers, clinicians, community members, and all stakeholders with interests in Barth syndrome.
Featuring 15 presentations spanning BTHS clinical trial results, cardiolipin, cardiomyopathy, metabolism, neutropenia and pathophysiology - this symposium demonstrates the continued breadth and quality of ongoing Barth research. Speaker abstracts are viewable below.
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
Dynamic cardiolipin synthesis and remodeling is required for CD8+ T cell immunity - Mauro Corrado, University of Freiburg
Are alkylglycerols the new "vitamins" for Barth patients? - Jose Bozelli Jr., McMaster University
Targeting pyruvate dehydrogenase complex to improve Barth syndrome cardiac function - Charles McCall, Wake Forest School of Medicine
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
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
Favorable outcomes in heart transplantation for dilated cardiomyopathy associated with Barth syndrome - Yu Li, University of Pittsburgh
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
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
Defective mitochondrial calcium uptake underlies arrhythmias in Barth syndrome - Christoph Maack, University Clinic Wuerzburg
Prenatal antioxidant therapy in a tafazzin knockout mouse model of Barth syndrome - Colin Phoon, New York University
AAV gene therapy prevents and reverses heart failure in a murine knockout model of Barth syndrome - Suya Wang, Boston Children's Hospital
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
Neutropenia in Barth syndrome: Endoplasmic reticulum stress and an increased sensitivity to apoptosis - David Sykes, Massachusetts General Hospital
Neutrophil dysfunction and dysregulation in Barth syndrome - Chris Rice, University of Bristol