P210: Real-world benefits and tolerability of trofinetide for the treatment of male patients with Rett syndrome: LOTUS study interim results
Abstract
Rett syndrome (RTT) is a rare neurodevelopmental disease primarily associated with loss-of-function variants in the transcriptional regulator methyl-CpG binding protein-2 (MECP2) gene. RTT presents predominantly in female individuals, yet recent developments in genetic testing have added support to clinical observations that RTT can occur in males. Trofinetide is approved for the treatment of RTT in patients aged ≥2 years in the United States and patients aged ≥2 years weighing ≥9 kg in Canada, regardless of sex.
Fields of Study & Subjects
Genetics and Neurodevelopmental Disorders
Genomics and Rare Diseases
Autism Spectrum Disorder Research
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 103704–103704
- Publication date
- 1 January 2026
- Language
- EN