- Genetics: RTT is an X-linked neurodevelopmental disorder primarily affecting females, caused by mutations in the MECP2 gene.
- Phenotypic Variability: Includes classical and atypical forms, with overlapping features in autism spectrum disorders.
- Challenges in Therapy:
- High genetic and clinical variability.
- Imperfect genotype-phenotype correlations.
- Multifunctionality of MeCP2 protein complicates targeting.
Current Clinical Trials and Therapies
Past and Present Trials:
-
Completed Trials:
- Tested agents like IGF-1, ketogenic diet, L-carnitine, and omega-3 fatty acids.
- Most showed modest or mixed outcomes due to challenges in design and heterogeneity in participants.
Symptomatic Management:
- IGF-1 (Mecasermin): Positive neurobehavioral effects like reduced anxiety and apnea.
- Sarizotan: Focuses on improving respiratory irregularities.
- Trofinetide: Synthetic IGF-1 derivative showing promise in both adult and pediatric populations.
- Other agents under investigation include glatiramer acetate, dextromethorphan, ketamine, and lovastatin.