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 journalArticle

13 Citations (Scopus)

Abstract

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
Pages (from-to)454-460
Number of pages7
JournalJournal of Developmental and Behavioral Pediatrics
Volume32
Issue number6
DOIs
StatePublished - Jul 1 2011

Fingerprint

Rett Syndrome
Creatine
Randomized Controlled Trials
Placebos
DNA Methylation
Methionine
Homocysteine
Cross-Over Studies
Methylation
Multicenter Studies
Biomarkers
Confidence Intervals
Mutation

Keywords

  • clinical study
  • global DNA methylation
  • Rett syndrome

ASJC Scopus subject areas

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

Cite this

Effects of creatine supplementation in rett syndrome : A randomized, placebo-controlled trial. / Freilinger, Michael; Dunkler, Daniela; Lanator, Ines; Item, Chike Bellarmine; Mühl, Adolf; Fowler, Brian; Bodamer, Olaf A.

In: Journal of Developmental and Behavioral Pediatrics, Vol. 32, No. 6, 01.07.2011, p. 454-460.

Research output: Contribution to journalArticle

Freilinger, M, Dunkler, D, Lanator, I, Item, CB, Mühl, A, Fowler, B & Bodamer, OA 2011, 'Effects of creatine supplementation in rett syndrome: A randomized, placebo-controlled trial', Journal of Developmental and Behavioral Pediatrics, vol. 32, no. 6, pp. 454-460. https://doi.org/10.1097/DBP.0b013e31822177a8
Freilinger, Michael ; Dunkler, Daniela ; Lanator, Ines ; Item, Chike Bellarmine ; Mühl, Adolf ; Fowler, Brian ; Bodamer, Olaf A. / Effects of creatine supplementation in rett syndrome : A randomized, placebo-controlled trial. In: Journal of Developmental and Behavioral Pediatrics. 2011 ; Vol. 32, No. 6. pp. 454-460.
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