Trofinetide providing a promising avenue for the treatment of Rett syndrome


  • Raja Devendar DOW Medical College, Karachi, Pakistan
  • Anum Fatima Shigri Dr. Ruth K. M. Pfau Civil Hospital, Karachi, Pakistan
  • Maheera Khan DOW Medical College, Karachi, Pakistan



Rett syndrome, Trofinetide, MECP2


Rett syndrome (RTT) is a developmental disability associated primarily with the abnormal functioning of the nervous system. Affecting 1 in 10,000-15,000 women, it results from an inactivating modification in the X-linked genetic code, methyl-CpG-binding protein 2 (MECP2), which codes for a protein that binds to DNA and regulates transcription. Girls with RTT are born with normal prenatal and perinatal periods and appear to be in good health. Their psychomotor growth is typical up to their first or second year of life, at which point brain functional regression starts. Clinical signs of the regression include the emergence of stereotyped hand movements, a loss of fine motor skills, gait apraxia, verbal and nonverbal communication deficits, and epileptic seizures.


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Bienvenu T, Philippe C, De Roux N, Raynaud M, Bonnefond JP, Pasquier L, et al. The Incidence of Rett Syndrome in France. Pediatr Neurol. 2006;34(5):372-5.

Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet. 1999;23(2):185-8.

Gonzalez MCF, Silvestre FJ, Silla JMA. Oral findings in Rett syndrome: A systematic review of dental literature. Med Oral Patol Oral Cir Bucal, 2011;16(1):e37-41.

Glaze DG, Neul JL, Percy A, Feyma T, Beisang A, Yaroshinsky A, et al. A Double-Blind, Randomized, Placebo-Controlled Clinical Study of Trofinetide in the Treatment of Rett Syndrome. Pediatr Neurol. 2017;76:37-46.

Beisang A, Tervo M and Wagner R. Rett syndrome: Infancy to Adulthood. A Pediatr Perspect. 2008;17(1):1-3

Kaufmann WE, Stallworth JL, Everman DB, Skinner SA. Neurobiologically-based treatments in Rett syndrome: opportunities and challenges. Expert Opin Orphan Drugs. 2016;4(10):1043-55.

Glaze DG, Neul JL, Kaufmann WE, Berry-Kravis E, Condon S, Stoms G, et al. Double-blind, randomized, placebo-controlled study of trofinetide in pediatric Rett syndrome. Neurology. 2019;92(16):e1912-25.






Letter to the Editor