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Metabolic Evaluation of Nutrition in Rett Syndrome

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Disease Information

Descriptive Information
Brief Title † Metabolic Evaluation of Nutrition in Rett Syndrome
Official Title † A Systematic Metabolic Approach to the Evaluation of Nutrition in Rett Syndrome According to the Cardiorespiratory Phenotype in Dutch Rett Girls
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 part in this, other constitutional factors as altered metabolic processes are suspected. Irregular breathing is a common clinical feature, reflecting the immaturity of the brainstem in RTT. The primary pathophysiology is a defective control mechanism of carbon dioxide exhalation that leads to chronic respiratory alkalosis or acidosis. We assume that chronic respiratory acidosis or alkalosis causes derangement of the metabolic equilibrium in RTT females with important nutritional consequences. The aims of this pilot study are to describe the nutritional status of the RTT girls and to examine the consequences of a chronic respiratory acidosis or alkalosis on metabolic processes as a possible cause of impaired nutritional status.
Detailed Description
Study Phase N/A
Study Type † Observational
Study Design † Time Perspective: Cross-Sectional
Primary Outcome Measure † 1. What is the nutritional status of the RTT girls? 2. Can metabolic alterations caused by chronic respiratory acidosis or alkalosis be detected?
Secondary Outcome Measure †
Condition † Rett Syndrome
Intervention †
Study Arms / Comparison Groups Rett syndrome girls The study population consists of a well-defined group of Dutch RTT thirteen girls with complete clinical, molecular and neurophysiological 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 † May 2009
Completion Date October 2009
Primary Completion Date October 2009
Eligibility Criteria † Inclusion Criteria: - Clinical diagnosis of RTT (meeting consensus diagnostic criteria (Hagberg et al, 2002)); - MECP2-mutation; - Complete neurophysiological work-up. Exclusion Criteria: - Male gender.
Gender Female
Ages 2 Years - 20 Years
Accepts Healthy Volunteers No
Contacts ††
Location Countries † Netherlands
Administrative Information
NCT ID † NCT00786071
Organization ID MEC 08-2-119
Secondary IDs †† NL25356.068.08
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 March 2010
First Received Date † November 4, 2008
Last Updated Date March 3, 2010
† Required WHO trial registration data element.
†† WHO trial registration data element that is required only if it exists.
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