Index

Carolyn Taylor, MD, The Children’s Heart Program of South Carolina, Medical University of South Carolina, Charleston, SC

Brian Feingold, MD, MS, University of Pittsburgh, Pittsburgh, PA

John Lynn Jefferies, MD, MPH, FAAP, FACC, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH

Nicole Derusha-Mackey; Andrew Buddemeyer; Tracy Torbert

Clinical trials — An overview
Kate McCurdy, BSF Scientific & Medical Advisory Board, Emerita

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

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

Impact on the family and quality of life: Findings from the 2014 and 2016 surveys
Yoonjeong Lim, PhD, OTR/L, Georgia State University, Atlanta, GA

Discussions/Questions & Answers

Gene therapy vector optimization and testing for Barth syndrome
Christina Pacak, PhD, University of Florida, Gainesville, FL
(02:19-36:58)

Elamipretide (MTP-131) in subjects with genetically confirmed Barth syndrome (TAZPOWER): A phase 2 randomized, doubleblind, placebo-controlled crossover trial followed by an open-label treatment extension
Hilary J. Vernon, MD, PhD, Johns Hopkins University, Baltimore, MD
(36:58-01 - 01:14:08)

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
(01:14:08 - 01:53:19)

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
(01:53:20 - 02:28:37)

Cross-species omics integration identifies new potential treatments for Barth syndrome
Riekelt Houtkooper, PhD, Academic Medical Center, Amsterdam, The Netherlands
(02:28:37 - 02:54:23)

Can elamipretide, the first cardiolipin-protective compound, benefit Barth syndrome patients?
Hazel Szeto, MD, PhD, Social Profit Network, Menlo Park, CA
(02:54:23 - 03:31:15)

Jean Donadieu, MD, PhD, Trousseau University Hospital, Paris, France

Audrey Anna Bolyard, RN, BS, The Severe Chronic Neutropenia International Registry, Seattle, WA

Colin Steward, PhD, FRCP, FRCPCH, University of Bristol, United Kingdom

Discussions/Questions & Answers

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

Overview of all genetic testing from preimplantation genetic testing to postnatal testing; Direct to consumer genetic testing kits
Rebecca L. McClellan, MGC, CGC, Kennedy Krieger Institute, Baltimore, MD

Tips for talking to your children about the genetics of Barth syndrome
Rebecca L. McClellan, MGC, CGC, Kennedy Krieger Institute, Baltimore, MD; Cynthia James, ScM, PhD, Johns Hopkins University, Baltimore, MD

Feedback from female side of Barth study
Cynthia James, ScM, PhD, Johns Hopkins University, Baltimore, MD

Discussions/Questions & Answers

Translating science into medicine
Matthew Toth, PhD, BSF Science Director

Problems with sleeping, what is normal, what problems exist, give strategies to help individuals; Global overview on general sensory issues; What can families do
Stacey Reynolds PhD, OTR/L, Virginia Commonwealth University, Richmond, VA

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

Summary of nutrition in Barth syndrome
Nicole Clayton, Specialist Paediatric Eating Disorders Dietician, Bristol Royal Hospital for Children, Bristol, United Kingdom

What have we learned from our elders: Findings from the older men Barth study
Iyar Mazar, Doctoral Candidate, Boston College; Research Manager, Adelphi Values, Boston, MA

Discussions/Questions & Answers

Outreaches
John Wilkins

Growing Friends and Funds
Megan Branagh; Nicole Derusha-Mackey