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Effects of Creatine Supplementation in Rett Syndrome

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ClinicalTrials.gov Identifier: NCT01147575
Recruitment Status : Completed
First Posted : June 22, 2010
Last Update Posted : June 22, 2010
Sponsor:
Information provided by:
Medical University of Vienna

Tracking Information
First Submitted Date  ICMJE June 17, 2010
First Posted Date  ICMJE June 22, 2010
Last Update Posted Date June 22, 2010
Study Start Date  ICMJE January 2005
Actual Primary Completion Date January 2008   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures  ICMJE
 (submitted: June 18, 2010)
  • Global DNA Methylation in serum [ Time Frame: 6 months ]
    Global DNA methylation as one primary outcome measure is analyzed at time 0 and after 6 months.
  • Rett Syndrome Motor and Behavioral Assessment (RSMBA) [ Time Frame: 6 months ]
Original Primary Outcome Measures  ICMJE Same as current
Change History No Changes Posted
Current Secondary Outcome Measures  ICMJE
 (submitted: June 18, 2010)
Metabolic markers of methylation cycle [ Time Frame: 6 months ]
Markers: Methionine (µmol/l), Homocysteine (µmol/l), SAM (µmol/l), SAH (µmol/l)
Original Secondary Outcome Measures  ICMJE Same as current
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title  ICMJE Effects of Creatine Supplementation in Rett Syndrome
Official Title  ICMJE Effects of Creatine Supplementation in Rett Syndrome: A Randomized, Placebo-controlled Trial
Brief Summary

Creatine supplementation in RTT: a randomized controlled trial

Rett Syndrome (RTT) is a neurodevelopmental disorder characterised by apparently normal early development (stage 1 of RTT) followed by loss of purposeful hand use, distinctive hand stereotypes, slow brain growth, loss of language, respiratory irregularities, gastrointestinal disturbances, gait abnormalities, seizures, and mental retardation. These symptoms typically appear between 6 and 18 months of age (stage 2). Subsequently, there is gradual stabilisation of severe mental retardation and motor compromise (stage 3). The majority (70% to 80%) of patients show mutations in the methyl-CpG-binding-protein-2 (MeCP2) gene, located on chromosome Xq28. MeCP2 encodes a transcription repressor protein that is ubiquitously expressed in all tissues.

As RTT primarily affects females, only very few males with mutations in MeCP2 have been identified. Mutations in MeCP2 have also been identified in children with X-linked mental retardation, autism and a clinical phenotype that resembles Angelman Syndrome.

The aim of this study is to investigate the effects of a dietary supplement on the biochemical and clinical parameter of RTT. About 80 % of labile methyl groups generated through the re-methylation cycle are used for the synthesis of creatine within the human organism. Supplementation of creatine will therefore increase the availability of labile methyl groups for different methylation reactions including methylation of DNA.

The study will be double blind and cross-over. The patients will get creatine monophosphate (200 mg/kg/d in three dosages per day) or placebo. After 6 months and a wash-out period of 4 weeks the groups are changed for the next 6 months.

All participants with RTT and mutations in MeCP2 will undergo physical and neurological exam, quantitative EEG, behavioral assessment, laboratory testing, and neuropsychological evaluations. Participants will have a follow-up after 3, 6, 10, 13 and 16 months (3 months after finishing the study), which will include similar assessments.

Detailed Description Not Provided
Study Type  ICMJE Interventional
Study Phase  ICMJE Not Applicable
Study Design  ICMJE Allocation: Randomized
Intervention Model: Crossover Assignment
Masking: Quadruple (Participant, Care Provider, Investigator, Outcomes Assessor)
Primary Purpose: Basic Science
Condition  ICMJE Rett Syndrome
Intervention  ICMJE
  • Dietary Supplement: Creatine monohydrate
    The patients received orally 200 mg CMH per kg body weight divided in three doses per day. Following period 1 (6 months) of supplementation and a wash-out period of 4 weeks without CMH the groups were switched for another 6 months (period 2).
  • Dietary Supplement: Placebo
    The patients received orally 200 mg Placebo per kg body weight divided in three doses per day. Following period 1 (6 months) of supplementation and a wash-out period of 4 weeks without placebo the groups were switched for another 6 months (period 2).
Study Arms  ICMJE
  • Active Comparator: Creatine monohydrate
    The patients received orally 200 mg CMH per kg body weight divided in three doses per day. Following period 1 (6 months) of supplementation and a wash-out period of 4 weeks without CMH respectively the groups were switched for another 6 months (period 2).
    Intervention: Dietary Supplement: Creatine monohydrate
  • Placebo Comparator: Placebo
    The patients received orally 200 mg Placebo per kg body weight divided in three doses per day in identically prepared capsules. Following period 1 (6 months) of supplementation and a wash-out period of 4 weeks without Placebo respectively the groups were switched for another 6 months (period 2).
    Intervention: Dietary Supplement: Placebo
Publications * Freilinger M, Dunkler D, Lanator I, Item CB, Muhl A, Fowler B, Bodamer OA. Effects of creatine supplementation in Rett syndrome: a randomized, placebo-controlled trial. J Dev Behav Pediatr. 2011 Jul-Aug;32(6):454-60. doi: 10.1097/DBP.0b013e31822177a8.

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status  ICMJE Completed
Actual Enrollment  ICMJE
 (submitted: June 18, 2010)
21
Original Actual Enrollment  ICMJE Same as current
Actual Study Completion Date  ICMJE January 2009
Actual Primary Completion Date January 2008   (Final data collection date for primary outcome measure)
Eligibility Criteria  ICMJE

Inclusion Criteria:

  • RTT Syndrome, diagnosed by current consensus criteria

Exclusion Criteria:

  • taking supplements containing either folic acid or vitamin B12 or knowingly consuming any vitamin-fortified food items
Sex/Gender  ICMJE
Sexes Eligible for Study: Female
Ages  ICMJE 3 Years to 24 Years   (Child, Adult)
Accepts Healthy Volunteers  ICMJE No
Contacts  ICMJE Contact information is only displayed when the study is recruiting subjects
Listed Location Countries  ICMJE Austria
Removed Location Countries  
 
Administrative Information
NCT Number  ICMJE NCT01147575
Other Study ID Numbers  ICMJE OENB11758
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement  ICMJE Not Provided
Current Responsible Party M Freilinger, MD, Medical University Vienna, Department of Pediatric and Adolescent Medicine
Original Responsible Party Same as current
Current Study Sponsor  ICMJE Medical University of Vienna
Original Study Sponsor  ICMJE Same as current
Collaborators  ICMJE Not Provided
Investigators  ICMJE
Principal Investigator: Michael Freilinger, MD Medical University Vienna, Dep. Pediatrics
PRS Account Medical University of Vienna
Verification Date May 2010

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP