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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

Study Description
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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.


Condition or disease Intervention/treatment Phase
Rett Syndrome Dietary Supplement: Creatine monohydrate Dietary Supplement: Placebo Not Applicable

Study Design
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Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 21 participants
Allocation: Randomized
Intervention Model: Crossover Assignment
Masking: Quadruple (Participant, Care Provider, Investigator, Outcomes Assessor)
Primary Purpose: Basic Science
Official Title: Effects of Creatine Supplementation in Rett Syndrome: A Randomized, Placebo-controlled Trial
Study Start Date : January 2005
Actual Primary Completion Date : January 2008
Actual Study Completion Date : January 2009

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Rett Syndrome

Arms and Interventions
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Arm Intervention/treatment
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).
 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).
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).
 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).


Outcome Measures
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Primary Outcome Measures :
  1. 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.

  2. Rett Syndrome Motor and Behavioral Assessment (RSMBA) [ Time Frame: 6 months ]

Secondary Outcome Measures :
  1. Metabolic markers of methylation cycle [ Time Frame: 6 months ]
    Markers: Methionine (µmol/l), Homocysteine (µmol/l), SAM (µmol/l), SAH (µmol/l)


Eligibility Criteria
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Ages Eligible for Study:   3 Years to 24 Years   (Child, Adult)
Sexes Eligible for Study:   Female
Accepts Healthy Volunteers:   No
Criteria

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
Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01147575


Locations
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Austria
Medical University Vienna, Dep. of Pediatric and Adolescent Medicine
Vienna, Austria, 1090
Sponsors and Collaborators
Medical University of Vienna
Investigators
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Principal Investigator: Michael Freilinger, MD Medical University Vienna, Dep. Pediatrics
More Information
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Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):

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Responsible Party: M Freilinger, MD, Medical University Vienna, Department of Pediatric and Adolescent Medicine
ClinicalTrials.gov Identifier: NCT01147575    
Other Study ID Numbers: OENB11758
First Posted: June 22, 2010    Key Record Dates
Last Update Posted: June 22, 2010
Last Verified: May 2010
Keywords provided by Medical University of Vienna:
Rett Syndrome, Randomized, Methylation
Additional relevant MeSH terms:
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Rett Syndrome
Syndrome
Disease
Pathologic Processes
Mental Retardation, X-Linked
Intellectual Disability
 Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Heredodegenerative Disorders, Nervous System