A study of the treatment of Rett syndrome with folate and betaine.
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.
Glaze
Daniel G
DG
Baylor College of Medicine, Houston, Texas, USA.
Percy
Alan K
AK
Motil
Kathleen J
KJ
Lane
Jane B
JB
Isaacs
Janet S
JS
Schultz
Rebecca J
RJ
Barrish
Judy O
JO
Neul
Jeffrey L
JL
O'Brien
William E
WE
Smith
E O'Brian
EO
D000293:Adolescent; D000328:Adult; D001622:Betaine / Q000097:blood / Q000627:therapeutic use*; D002648:Child; D002675:Child, Preschool; D004311:Double-Blind Method; D005260:Female; D005492:Folic Acid / Q000627:therapeutic use*; D006801:Humans; D007223:Infant; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics; D015518:Rett Syndrome / Q000097:blood / Q000188:drug therapy* / Q000235:genetics; D016896:Treatment Outcome; D055815:Young Adult
D051783:Methyl-CpG-Binding Protein 2; D001622:Betaine; D005492:Folic Acid