Tag: rare disease
Rare disease drug development: Time for a new approach?
A limited patient population is a key challenge in rare disease drug development. Professor Shein-Chung Chow of Duke University School of Medicine, USA and his research partners explore innovative approaches to overcome this challenge. These include using external control, selecting appropriate study endpoints, and justifying sample size based on probability statements. They propose the use of a complex innovative two-stage […]
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Barth syndrome: A potential treatment for a rare disease
Barth syndrome is a rare disorder in males caused by a variant of the gene TAFAZZIN. It affects the metabolism of the fat molecule cardiolipin in mitochondria, resulting in the dysfunction of skeletal muscle and the heart. The syndrome doesn’t have a specific therapy, so patients who suffer from it have health problems their entire lives and are more likely […]
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