A study of the treatment of Rett syndrome with folate and betaine

J Child Neurol. 2009 May;24(5):551-6. doi: 10.1177/0883073808327827. Epub 2009 Feb 18.

Abstract

We tested the hypothesis that increasing methyl-group pools might promote transcriptional repression by other methyl-binding proteins or by mutant methyl-CpG-binding protein 2 with altered affinity, ameliorating the clinical features of Rett syndrome. A 12-month, double-blind, placebo-controlled folate-betaine trial enrolled 73 methylCpG-binding protein 2 mutation positive female participants meeting consensus criteria for Rett syndrome. Participants were randomized as young (< age 5 years) or old (>or= age 5 years). Structured clinical assessments occurred at baseline, 3, 6, and 12 months. Primary outcome measures included quantitative evaluation of breathing and hand movements during wakefulness, growth, anthropometry, motor/behavioral function, and qualitative evaluations from electroencephalograms and parent questionnaires. In all, 68 participants completed the study. Objective evidence of improvement was not found. Subjective improvement from parent questionnaires was noted for the <5 years group. This study should inform future treatment trials regarding balancing participants with specific mutations and comparable severity to minimize selection bias.

Publication types

  • Randomized Controlled Trial
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Betaine / blood
  • Betaine / therapeutic use*
  • Child
  • Child, Preschool
  • Double-Blind Method
  • Female
  • Folic Acid / therapeutic use*
  • Humans
  • Infant
  • Methyl-CpG-Binding Protein 2 / genetics
  • Rett Syndrome / blood
  • Rett Syndrome / drug therapy*
  • Rett Syndrome / genetics
  • Treatment Outcome
  • Young Adult

Substances

  • Methyl-CpG-Binding Protein 2
  • Betaine
  • Folic Acid