Dr. Grey AI

Barth Syndrome

An ultra-rare X-linked genetic mitochondrial disorder caused by mutations in the TAZ gene affecting cardiolipin metabolism. Characterized by cardiomyopathy, skeletal muscle weakness, neutropenia, growth delay, and exercise intolerance. Affects approximately 1 in 300,000-400,000 individuals, primarily males.

Quick Answer

What it is

An ultra-rare X-linked genetic mitochondrial disorder caused by mutations in the TAZ gene affecting cardiolipin metabolism. Characterized by cardiomyopathy, skeletal muscle weakness, neutropenia, growth delay, and exercise intolerance.

Key findings

  • Grade A: 6-Minute Walk Test (Barth Syndrome) (Elamipretide (Forzinity/SS-31))
  • Grade A: Muscle Strength (Barth Syndrome) (Elamipretide (Forzinity/SS-31))
  • Grade A: Safety and Tolerability (Elamipretide (Forzinity/SS-31))

Safety

  • TAZPOWER 168-week OLE: Well tolerated with injection-site reactions as most common adverse event.
ℹ️ Quick Facts

Quick Facts: Barth Syndrome

  • Supplements Studied:1
  • Top Supplement:Oleoylethanolamide (D)
1 supps · 4 outcomes

Detailed Outcomes

A
6-Minute Walk Test (Barth Syndrome)
TAZPOWER 168-week OLE (n=10): Cumulative 96.1 meter improvement in 6MWT from baseline (P=0.003). Significant improvements maintained at all OLE timepoints. Led to FDA accelerated approval in 2025.
large↑Improves
A
Muscle Strength (Barth Syndrome)
TAZPOWER trial: Knee extensor muscle strength improved by >45% with elamipretide treatment. Significantly correlated with improvement in 6MWT. First approved therapy for Barth syndrome.
large↑Improves
A
Safety and Tolerability
TAZPOWER 168-week OLE: Well tolerated with injection-site reactions as most common adverse event. No serious safety signals. FDA granted Orphan Drug, Fast Track, Priority Review, and Rare Pediatric Disease designations.
large↑Improves
B
Cardiac Function (Barth Syndrome)
TAZPOWER trial demonstrated improvements in cardiac function in Barth syndrome cardiomyopathy. Elamipretide stabilizes mitochondrial cristae and improves bioenergetics in cardiomyocytes. Long-term safety data favorable over 168 weeks.
moderate↑Improves
D
Mitochondrial Function (Barth Syndrome)
An in vitro study found OEA treatment of Tafazzin-deficient lymphoblasts (a model of Barth syndrome) improved cell growth, mitochondrial morphology, and mitochondrial dynamics (PMID:35676289). No in vivo or clinical data available.
1 study
small↑Improves

Research Citations (100)

Contemporary insights into elamipretide's mitochondrial mechanism of action and therapeutic effects
(2025)
PMID: 40294492
Reprogramming of Treg cell-derived small extracellular vesicles effectively prevents intestinal inflammation from PANoptosis by blocking mitochondrial oxidative stress.
(2025)
PMID: 39689981
Mitochondrial Cardiolipin-Targeted Tetrapeptide, SS-31, Exerts Neuroprotective Effects Within In Vitro and In Vivo Models of Spinal Cord Injury.
(2025)
PMID: 40244206
Aging, mitochondrial dysfunction, and cerebral microhemorrhages: a preclinical evaluation of SS-31 (elamipretide) and development of a high-throughput machine learning-driven imaging pipeline for cerebromicrovascular protection therapeutic screening.
(2025)
PMID: 40169521
The Mitochondria-Targeted Peptide Therapeutic Elamipretide Improves Cardiac and Skeletal Muscle Function During Aging Without Detectable Changes in Tissue Epigenetic or Transcriptomic Age.
(2025)
PMID: 40080911
Targeting the Electron Transport System for Enhanced Longevity.
(2025)
PMID: 40427507
SS-31: A promising therapeutic agent against bleomycin-induced pulmonary fibrosis in Mice.
(2025)
PMID: 40299935
Beyond the injection: delivery systems reshaping retinal disease management.
(2025)
PMID: 40319468
Elamipretide enhances post-thaw rooster sperm quality by mitigating oxidative stress and optimizing mitochondrial function during cryopreservation.
(2025)
PMID: 40604246
Environmental enrichment highlights mitochondrial inner membrane function as a therapeutic target for sepsis-associated encephalopathy.
(2025)
PMID: 40571047

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