Investigating how mitochondrial quality control affects heart function in Barth Syndrome

Understanding Cardiac Mitochondrial Quality Control Through the Lens of Barth Syndrome

['FUNDING_R01'] · JOHNS HOPKINS UNIVERSITY · NIH-11165749

This study is looking at how a process that helps keep heart cells healthy affects heart function in people with Barth Syndrome, aiming to find out more about the heart problems caused by this condition and how to help.

Quick facts

Phase['FUNDING_R01']
Study typeNih_funding
SexAll
SponsorJOHNS HOPKINS UNIVERSITY (nih funded)
Locations1 site (BALTIMORE, UNITED STATES)
Trial IDNIH-11165749 on ClinicalTrials.gov

What this research studies

This research focuses on understanding how mitochondrial quality control, specifically through a process called mitophagy, impacts heart function in patients with Barth Syndrome. The study will explore the effects of a genetic deficiency that leads to abnormal mitochondrial behavior in heart cells, which can cause serious cardiac issues. By using advanced techniques, including stem cell-derived heart cells, the researchers aim to uncover the mechanisms behind these cardiac problems and how they can be addressed. This research is particularly relevant for understanding heart health in individuals with Barth Syndrome and similar conditions.

Who could benefit from this research

Good fit: Ideal candidates for this research include individuals diagnosed with Barth Syndrome or those experiencing cardiac dysfunction related to mitochondrial issues.

Not a fit: Patients without mitochondrial disorders or those not affected by cardiac dysfunction may not benefit from this research.

Why it matters

Potential benefit: If successful, this research could lead to new treatments that improve heart function and overall health for patients with Barth Syndrome and related cardiac disorders.

How similar studies have performed: Previous research has shown promising results in understanding mitochondrial function in cardiac health, making this approach both relevant and potentially impactful.

Where this research is happening

BALTIMORE, UNITED STATES

Researchers

About this research

  1. This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
  2. Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
  3. For full project details, budget, and progress reports, visit the official NIH RePORTER page below.

View on NIH RePORTER →

Last reviewed 2026-05-15 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.