Effects of creatine supplementation in rett syndrome: A randomized, placebo-controlled trial

Michael Freilinger, Daniela Dunkler, Ines Lanator, Chike Bellarmine Item, Adolf Mühl, Brian Fowler, Olaf A. Bodamer

Research output: Contribution to journalArticlepeer-review

14 Scopus citations


OBJECTIVE:: To evaluate the effects of creatine monohydrate (CMH) supplementation on global DNA methylation and disease-specific clinical symptoms in female patients with Rett syndrome (RTT). METHODS:: Double-blind, randomized, placebo-controlled crossover trial of female patients with RTT. Participants received 200 mg/kg of either CMH or placebo daily for 6 months and switched following a 4-week washout period. Primary endpoints were change in global DNA methylation and in a RTT-specific symptom score as defined by medical history and clinical evaluation with Rett Syndrome Motor and Behavioral Assessment. Secondary endpoints were changes in biochemical markers of methionine metabolism. RESULTS:: Eighteen female patients aged 3 to 25 years with clinically diagnosed typical RTT and MECP2 mutation at clinical Stages III or IV were studied. CMH supplementation resulted in a statistically significant increase of global methylation by 0.11 (95% confidence interval 0.03-0.19, p = .009) compared with placebo. Total and subscores of Rett Syndrome Motor and Behavioral Assessment tended to improve but without statistical significance. CONCLUSION:: CMH supplementation increases global DNA methylation statistically significantly. Scores were lower for creatine than for placebo reflecting clinical improvement but not reaching statistical significance. Biochemical variables of methionine-homocysteine remethylation are unaffected. Multicenter studies are urgently warranted to evaluate the long-term effects of CMH supplementation in an optimally homogenous RTT population over a prolonged period.

Original languageEnglish (US)
Pages (from-to)454-460
Number of pages7
JournalJournal of Developmental and Behavioral Pediatrics
Issue number6
StatePublished - Jul 1 2011


  • clinical study
  • global DNA methylation
  • Rett syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Developmental and Educational Psychology
  • Psychiatry and Mental health


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