2021 ACMG Annual Clinical Genetics Meeting - Product Theaters-Progressive Worsening of Central Nervous System Phenotype in Children with Classic Galactosemia: a Cross Sectional Analysis

Progressive Worsening of Central Nervous System Phenotype in Children with Classic Galactosemia: a Cross Sectional Analysis

Back to course

Video Transcription

Video Summary

The video is a webinar presentation on galactosemia, a rare metabolic disease. The speaker, Dr. Riccardo Perfetti, Chief Medical Officer at Applied Therapeutics, introduces the webinar and its focus on the progressive worsening of the central nervous system phenotype in children with classic galactosemia. He discusses the disease manifestation and its impact on cognition, memory, and behavior. Dr. Perfetti explains that galactosemia is caused by a genetic inability to break down galactose, which accumulates in tissues and organs, leading to long-term complications. He introduces AP007, a novel aldose reductase inhibitor that prevents the formation and accumulation of galactitol, a toxic metabolite. He presents data from animal models showing the reduction of galactitol and improvements in cognitive abilities and the prevention of cataract formation. He then introduces Dr. Francesca Lawson, who discusses the galactosemia pediatric program, including a placebo-controlled trial in children and the assessment of clinical outcomes such as speech, cognition, behavior, and motor skills. She presents cross-sectional analysis data showing the progression of the disease with age. The webinar concludes with an invitation to visit their website for more information. No credits are mentioned in the video.

Asset Subtitle

Applied Therapeutics

Keywords

galactosemia

metabolic disease

central nervous system phenotype

cognition

galactitol

clinical outcomes