2018

Scientific, Medical & Family Conference

Scientific & Medical Session Agenda

July 19, 2018 - Clearwater Beach, FL

Pathomechanisms of Barth Syndrome
Chair—Arnold W. Strauss, MD, Cincinnati Children's Research Foundation, Cincinnati, OH

Knockin and knockout mouse models of Barth syndrome
William T. Pu, MD, Boston Children´s Hospital, Boston, MA

A novel mechanism to explain cardiac oxidative stress and energy depletion in Barth syndrome
Christoph Maack, MD, University Clinic Würzburg, Würzburg, Germany

Activation of the mitochondrial stress response underlies a specific heart phenotype in Barth syndrome
Douglas Strathdee, PhD, Cancer Research UK Beatson Institute, Glasgow, United Kingdom

Nicotinamide replacement improves mitochondrial function in preclinical models of Barth syndrome
Christian Reynolds, PhD, Wayne State University, Detroit, MI

Increased ROS-mediated CaMKII activation contributes to BTHS iPS-CMs pathogenesis
Xujie Liu, PhD, Boston Children’s Hospital, Boston, MA

Altered islet function may promote a lean phenotype in tafazzin deficient mice
Laura Cole, PhD, University of Manitoba, Winnipeg, Canada

Defective mitochondrial cardiolipin remodeling causes alterations in cellular signaling pathways
Jan Dudek, PhD, University Medical Clinic Würzburg, Würzburg, Germany


Potential Therapies for Barth Syndrome
Chair—W. Todd Cade, PT, PhD, Washington University School of Medicine, St. Louis, MO

Gene therapy vector optimization and testing for Barth syndrome
Christina Pacak, PhD, University of Florida, Gainesville, FL

Elamipretide (MTP-131) in subjects with genetically confirmed Barth syndrome (TAZPOWER): A phase 2 randomized, double-blind, placebo-controlled crossover trial followed by an open-label treatment extension
Hilary J. Vernon, MD, PhD, Johns Hopkins University, Baltimore, MD

Evaluating antioxidant therapies in a tafazzin-knockdown mouse model of Barth syndrome
Colin Phoon, MPhil, MD, New York University School of Medicine, New York, NY

Identification of novel mitochondrial targeting peptides in tafazzin and long-term efficacy of enzyme replacement therapy in a mouse model of Barth syndrome
Michael Chin, MD, PhD, Tufts Medical Center, Boston, MA

Cross-species omics integration identifies new potential treatment targets for Barth syndrome
Riekelt Houtkooper, PhD, Academic Medical Center, Amsterdam, The Netherlands

Can elamipretide, the first cardiolipin-protective compound, benefit Barth patients?
Hazel Szeto, MD, PhD, Weill Cornell Medical College, New York, NY

Poster Session
Chair—Hilary J. Vernon, MD, PhD, Johns Hopkins University, Baltimore, MD


July 20, 2018 - Clearwater Beach, FL

Clinical Characteristics of Barth Syndrome
Chair—Grant M. Hatch, PhD, University of Manitoba, Winnipeg, Canada

Barth syndrome: Natural history of cardiomyopathy and cardiac conduction
Carolyn Taylor, MD, Medical University of South Carolina, Charleston, SC

Functional exercise capacity, strength, balance and motion reaction time in Barth syndrome: Outcomes from the 2016 Barth Syndrome Foundation Scientific, Medical & Family Conference
Brittany DeCroes Hornby, PT, DPT, PCS, Kennedy Krieger Institute, Baltimore, MD

Characterization of the metabolic phenotype in individuals with Barth syndrome with and without cardiac transplantation
W. Todd Cade, PT, PhD, Washington University School of Medicine, St. Louis, MO

Summarized findings from the Barth registry interviews: Key points for moving forward
Anthony Aiudi, PharmD, Stealth Biotherapeutics, Newton, MA

2 Poster Presenters

Females with Barth syndrome
Colin Steward, PhD, FRCP, FRCPCH, University of Bristol, United Kingdom


Cardiolipin and Barth Syndrome
Chair—Michael Schlame, MD, New York University School of Medicine, New York, NY

The composition and dynamics of the mitochondrial complexome
Ulrich Brandt, PhD, Radboud University Medical Center, Nijmegen, The Netherlands

Mechanisms underlying TCA cycle defects in tafazzin deficient cells – Potential new targets for treatment of Barth syndrome
Miriam L. Greenberg, PhD, Wayne State University, Detroit, MI

2 Poster Presenters

Targeting ALCAT1 for the treatment of Barth syndrome  
Yuguang Shi, PhD, University of Texas Health Sciences Center, San Antonio, TX

Biophysical approaches toward understanding the molecular mechanism of action of SS-31 (Elamipretide)
Nathan Alder, PhD, University of Connecticut, Storrs, CT

The structural molecular diversity of cardiolipins
Markus Keller, PhD, Medical University Innsbruck, Innsbruck, Austria

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