The development of treatment of Rett syndrome with Trofinetide (NNZ-2566) is welcome. It is a drug developed by Neuren Pharmaceuticals that acts as an analogue of the neuropeptide (1-3) IGF-1, which is a simple tripeptide with sequence Gly-Pro-Glu formed by enzymatic cleavage of the growth factor IGF-1 within the brain. Trofinetide has anti-inflammatory properties and was originally developed as a potential treatment for stroke,[1][2] but has subsequently been developed for other applications and is now in Phase II clinical trials against Fragile X syndrome and Rett syndrome.
https://en.wikipedia.org/wiki/Trofinetide
In a recent study trofinetide was demonstrated to be safe and effective in Rett syndrome. This was a study of 82 girls, aged 5-15 years, mean 10 years. All has the MECP gene and were in the post-regressive phase of the disease. It was a phase 2 study in 12 american centers. A randomized double-blind period of 42 days compared 3 doses of the active treatment with placebo.
Glaze et al. Neurology 2019, 92:e1912-e1925
Patients with adverse events were 58% in the placebo group and 53,69 and 70% in the 50, 100 and 200mg/kg dose of trofinetide, given as a liquid orally or via gastrostomy. The higher dose produced improvements in the Rett Syndrome Behaviour Questionnaire and in 2 others analog scale used frequently for Rett syndrome studies.
Dr Paulo Bittencourt
