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
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Tracking Information | ||||
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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 |
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Original Primary Outcome Measures ICMJE | Same as current | |||
Change History | No Changes Posted | |||
Current Secondary Outcome Measures ICMJE |
Metabolic markers of methylation cycle [ Time Frame: 6 months ] Markers: Methionine (µmol/l), Homocysteine (µmol/l), SAM (µmol/l), SAH (µmol/l)
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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. |
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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 |
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Condition ICMJE | Rett Syndrome | |||
Intervention ICMJE |
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Study Arms ICMJE |
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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. |
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Recruitment Information | ||||
Recruitment Status ICMJE | Completed | |||
Actual Enrollment ICMJE |
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:
Exclusion Criteria:
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Sex/Gender ICMJE |
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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 |
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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 |