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Metabolic Evaluation of Nutrition in Rett Syndrome

This study has been completed.
Sponsor:
ClinicalTrials.gov Identifier:
NCT00786071
First Posted: November 5, 2008
Last Update Posted: March 4, 2010
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
Information provided by:
Maastricht University Medical Center
November 4, 2008
November 5, 2008
March 4, 2010
May 2009
October 2009   (Final data collection date for 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? [ Time Frame: Once. ]
Which metabolic alterations can be detected in girls with RTT? To what extent can impaired nutritional status be explained by metabolic alterations in RTT? [ Time Frame: Once. ]
Complete list of historical versions of study NCT00786071 on ClinicalTrials.gov Archive Site
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Metabolic Evaluation of Nutrition in Rett Syndrome
A Systematic Metabolic Approach to the Evaluation of Nutrition in Rett Syndrome According to the Cardiorespiratory Phenotype in Dutch Rett Girls

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.

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Observational
Time Perspective: Cross-Sectional
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Retention:   Samples Without DNA
Description:
Whole blood, serum, dried blood spot, leukocytes, erythrocytes, urine.
Non-Probability Sample
The study population consists of a well-defined group of thirteen Dutch RTT girls with complete clinical, molecular and neurophysiological work-up.
Rett Syndrome
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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.

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Completed
13
October 2009
October 2009   (Final data collection date for primary outcome measure)

Inclusion Criteria:

  • Clinical diagnosis of RTT (meeting consensus diagnostic criteria (Hagberg et al, 2002));
  • MECP2-mutation;
  • Complete neurophysiological work-up.

Exclusion Criteria:

  • Male gender.
Sexes Eligible for Study: Female
2 Years to 20 Years   (Child, Adult)
No
Contact information is only displayed when the study is recruiting subjects
Netherlands
 
 
NCT00786071
MEC 08-2-119
NL25356.068.08 ( Other Identifier: Medical Ethical Committee University Hospital of Maastricht )
No
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Prof. dr. L.M.G. Curfs, University Hospital Maastricht.
Maastricht University Medical Center
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Study Director: Leopold MG Curfs, Professor Maastricht University Medical Center
Study Director: Eric EJ Smeets, MD, PhD Maastricht University Medical Center
Maastricht University Medical Center
March 2010