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A Study of the Treatment of Rett Syndrome With Folate and Betaine

Baylor College of Medicine, Houston, Texas

Alan K. Percy, MD

University of Alabama at Birmingham, Birmingham, Alabama, apercy{at}uab.edu

Kathleen J. Motil, MD

Baylor College of Medicine, Houston, Texas

Jane B. Lane, RN, BSN

University of Alabama at Birmingham, Birmingham, Alabama

Janet S. Isaacs, PhD, RD

University of Alabama at Birmingham, Birmingham, Alabama

Rebecca J. Schultz, RN, MSN, CPNP

Baylor College of Medicine, Houston, Texas

Judy O. Barrish, RN, BSN

Baylor College of Medicine, Houston, Texas

Jeffrey L. Neul, MD, PhD

Baylor College of Medicine, Houston, Texas

William E. O'Brien, PhD

Baylor College of Medicine, Houston, Texas

E. O'Brian Smith, PhD

Baylor College of Medicine, Houston, Texas

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 (! 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.

Key Words: Rett syndrome • MECP2 • methylation • folate • betaine • vitamin B12

This version was published on May 1, 2009

Journal of Child Neurology, Vol. 24, No. 5, 551-556 (2009)
DOI: 10.1177/0883073808327827


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