Thelansis

 Barth syndrome (BTHS) is a rare X-linked genetic disorder that has distinct characteristics, including cardiomyopathy (CM), skeletal myopathy, growth delay, neutropenia, and elevated urinary levels of 3-methylglutaconic acid (3-MGCA). This condition arises from mutations in the TAZ gene (at Xq28), which encodes Taz1p acyltransferase, an enzyme crucial for cardiolipin metabolism—a major phospholipid in the inner mitochondrial membranes. Dysfunctional Taz1p leads to abnormal cardiolipin remodeling, compromising the integrity of mitochondrial structure and respiratory chain function. Clinical manifestations encompass a broad spectrum, with varying combinations of the following features: dilated cardiomyopathy (DCM), left ventricular non-compaction (LVNC), endocardial fibroelastosis (EFE), hypertrophic cardiomyopathy (HCM), ventricular arrhythmia, sudden cardiac death, neutropenia (ranging from absent to severe), delayed motor milestones, proximal myopathy, lethargy, fatigue, prolonge...

  Barth syndrome (BTHS) is widely recognised as a rare X-linked genetic disease characterised by cardiomyopathy (CM), skeletal myopathy, growth delay, neutropenia, and increased urinary excretion of 3- methylglutaconic acid (3-MGCA). Clinical features include variable combinations of the following wide spectrum: dilated cardiomyopathy (DCM), left ventricular non-compaction (LVNC), endocardial fibroelastosis (EFE), hypertrophic cardiomyopathy (HCM), ventricular arrhythmia, sudden cardiac death, neutropenia (absent to severe; persistent, delayed motor milestones, proximal myopathy, lethargy and fatigue, prolonged QTc interval, failure to thrive, compensatory monocytosis, recurrent bacterial infection, hypoglycaemia, feeding problems, growth and pubertal delay, lactic acidosis, intermittent or perfectly cyclical), episodic diarrhoea, characteristic facies, and X-linked family history. The mean age at diagnosis of BTHS was 4 to 5 years, although the age of onset of symptoms wa...

  Barth syndrome is a metabolic and neuromuscular disorder, occurring almost exclusively in males, that primarily affects the heart, immune system, muscles, and growth.   Etiology- Barth syndrome is caused by mutations in the TAZ gene, which is located on the X chromosome. The TAZ gene provides "instructions" for a group of proteins called tafazzins that serve at least two functions.   Epidemiology- Barth syndrome is estimated to affect 1 in 300,000 to 400,000 individuals worldwide.   The competitive landscape of Barth Syndrome includes country-specific approved as well as pipeline therapies. Any asset/product-specific designation or review and Accelerated Approval are being tracked and supplemented with analyst commentary. KOLs insights of Barth Syndrome across 8 MM market from the center of Excellence/ Public/ Private hospitals participated in the study. Insights around current treatment landscape, epidemiology, clinical characteristics, future t...