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Creatine Metabolism in Rett Syndrome

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Disease Information

Descriptive Information
Brief Title † Creatine Metabolism in Rett Syndrome
Official Title † Metabolic Evaluation of Nutrition in Rett Syndrome: Creatine Metabolism
Brief Summary Rett syndrome (RTT) is an X-linked severe neurodevelopmental disorder. Despite their good appetite, many females with RTT meet the criteria for moderate to severe malnutrition. The pathological mechanism is barely understood. Although feeding difficulties may play a role in this, other constitutional factors as altered metabolic processes are suspected. Preliminary research showed elevated plasma creatine concentrations and increased urinary creatine/creatinine ratios in half of the RTT girls. The aim of this study is to confirm previous findings and examine the functionality of the creatine transporter in RTT girls. The investigators assume that previous findings will be confirmed, and are due to an altered functionality of the creatine transporter.
Detailed Description
Study Phase N/A
Study Type † Observational
Study Design † Time Perspective: Cross-Sectional
Primary Outcome Measure † Confirm previous findings and examine the functionality of the creatine transporter in RTT girls
Secondary Outcome Measure †
Condition † Rett Syndrome
Intervention †
Study Arms / Comparison Groups Rett syndrome girls The study population (identical to the population in the preliminary research project) consists of a well-defined group of thirteen Dutch RTT girls with complete clinical, molecular, neurophysiological and metabolic work-up.
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 †
Estimated Enrollment † 13
Start Date † August 2010
Completion Date January 2011
Primary Completion Date January 2011
Eligibility Criteria † Inclusion Criteria: - Clinical diagnosis of RTT (meeting consensus diagnostic criteria (Hagberg et al, 2002)); - MECP2-mutation; - Complete neurophysiological work-up; - Participant preliminary research (research protocol NL25356.068.08). Exclusion Criteria: - Male gender
Gender Female
Ages 3 Years - 20 Years
Accepts Healthy Volunteers No
Contacts ††
Location Countries † Netherlands
Administrative Information
NCT ID † NCT01198015
Organization ID NL32481.068.10
Secondary IDs †† MEC-10-2-038
Responsible Party
Study Sponsor † Maastricht University Medical Center
Collaborators ††
Investigators † Study Director: Leopold MG Curfs, Professor, Maastricht University Medical Center
Information Provided By
Verification Date February 2011
First Received Date † September 2, 2010
Last Updated Date February 16, 2011
† Required WHO trial registration data element.
†† WHO trial registration data element that is required only if it exists.
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