Effects of Creatine Supplementation in Rett Syndrome

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Brief Title

Effects of Creatine Supplementation in Rett Syndrome

Official Title

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.
    



Study Type

Interventional


Primary Outcome

Global DNA Methylation in serum

Secondary Outcome

 Metabolic markers of methylation cycle

Condition

Rett Syndrome

Intervention

Creatine monohydrate

Study Arms / Comparison Groups

 Creatine monohydrate
Description:  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).

Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information


Recruitment Status

Dietary Supplement

Estimated Enrollment

21

Start Date

January 2005

Completion Date

January 2009

Primary Completion Date

January 2008

Eligibility 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
      

Gender

Female

Ages

3 Years - 24 Years

Accepts Healthy Volunteers

No

Contacts

Michael Freilinger, MD, , 

Location Countries

Austria

Location Countries

Austria

Administrative Informations


NCT ID

NCT01147575

Organization ID

OENB11758



Study Sponsor

Medical University of Vienna


Study Sponsor

Michael Freilinger, MD, Principal Investigator, Medical University Vienna, Dep. Pediatrics


Verification Date

May 2010