From the FDA Drug Label
Trofinetide is designated chemically as (2S)-2-{[(2S)-1-(2-aminoacetyl)-2-methylpyrrolidine-2-carbonyl]amino}pentanedioic acid (IUPAC). Its empirical formula is C13H21N3O6 and its molecular weight is 315. 33 g/mol.
The generic name of the drug is Trofinetide 1.
From the Research
Trofinetide is a synthetic analog of the naturally occurring tripeptide glycine-proline-glutamate, used to treat Rett syndrome in adult and pediatric females aged 2 years and older, as demonstrated in the most recent and highest quality study 2. The medication works by reducing neuroinflammation and supporting synaptic function in the brain.
Key Points
- The medication is administered orally as a liquid solution, with dosing based on body weight.
- Common side effects include diarrhea, vomiting, fever, and seizures.
- Trofinetide addresses the underlying neurological dysfunction in Rett syndrome by modulating microglial function and promoting normal neurodevelopment.
- It represents a significant advancement in treatment options for this rare genetic disorder, which primarily affects females and causes progressive deterioration in motor and cognitive functions after initial normal development.
- The medication helps improve communication, hand function, and behavioral symptoms in patients with Rett syndrome by targeting the neurological pathways disrupted by the condition, as shown in a comprehensive systematic review and meta-analysis of randomized controlled trials 2.
Efficacy and Safety
- Trofinetide has demonstrated statistically significant improvements in Clinical Global Impression-Improvement (CGI-I) and Rett Syndrome Behaviour Questionnaire (RSBQ) scores in pediatric and adult patients with Rett syndrome 2.
- The most common adverse events associated with trofinetide are diarrhea, vomiting, and fever, with diarrhea being a significant cause of treatment discontinuation 2.
- Long-term treatment with trofinetide has been shown to continue improving Rett syndrome symptoms without new safety concerns, as demonstrated in the 32-month, open-label LILAC-2 study 3.