# 2024 Scientific and Medical Conference on Barth Syndrome: Benchtop to Treatments

> **NIH NIH R13** · BARTH SYNDROME FOUNDATION · 2024 · $40,000

## Abstract

Project Summary
Barth syndrome (BTHS) is an ultra-rare (<500 individuals identified worldwide), life-threatening genetic
disease that primarily affects males. BTHS patients may develop cardiomyopathy, skeletal myopathy,
neutropenia, feeding difficulties, growth delay, and/or debilitating fatigue. There is currently no cure for
BTHS. Similar to many other rare diseases, developing treatments is an immense challenge due to
limitations in resources and insufficient commercial interest considering the small number of people
affected. Despite these obstacles, the Barth Syndrome Foundation (BSF)–a patient advocacy group
for those affected by BTHS–has made its mission to save lives through education, advances in
treatments, and finding a cure for the disease. A cornerstone program, for BSF to eventually realize
this mission, is the biennial Scientific and Medical Conference on Barth Syndrome.
Since 2000, BSF has held a biennial conference that provides a unique opportunity to stimulate new
clinical and scientific progress by bringing together physicians, healthcare providers, researchers,
affected individuals, and their families. The 2014, 2016, and 2018 conferences ushered in an era of
specific therapies for BTHS and two clinical trials, TAZPOWER and CARDIOMAN. Virtual symposia
were held in 2020 and 2022, where researchers presented the first proof-of-concept for AAV gene
therapy in BTHS mouse models, extant therapies for cardiomyopathy including heart transplantation,
and promising findings in the elamipretide open label extension data.
The “2024 Scientific and Medical Conference on Barth Syndrome: Benchtop to Treatments,” provides
a unique opportunity to stimulate new clinical and scientific progress. At the 2024 conference,
physicians, healthcare providers, researchers, and the affected community will meet in an intimate and
supportive environment. Aligned with our theme of “Benchtop to Treatments,” a novel focus for our
2024 conference will be on clinical trial readiness, which is critical in developing therapies for BTHS to
achieve the overarching goal of a world where BTHS no longer causes suffering or loss of life.

## Key facts

- **NIH application ID:** 10994387
- **Project number:** 1R13HL175872-01
- **Recipient organization:** BARTH SYNDROME FOUNDATION
- **Principal Investigator:** Miriam L Greenberg
- **Activity code:** R13 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $40,000
- **Award type:** 1
- **Project period:** 2024-08-01 → 2025-07-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10994387

## Citation

> US National Institutes of Health, RePORTER application 10994387, 2024 Scientific and Medical Conference on Barth Syndrome: Benchtop to Treatments (1R13HL175872-01). Retrieved via AI Analytics 2026-05-25 from https://api.ai-analytics.org/grant/nih/10994387. Licensed CC0.

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