Metabolic Evaluation of Nutrition in Rett Syndrome

This study has been completed.
Information provided by:
Maastricht University Medical Center Identifier:
First received: November 4, 2008
Last updated: March 3, 2010
Last verified: March 2010

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.

Rett Syndrome

Study Type: Observational
Study Design: Time Perspective: Cross-Sectional
Official Title: A Systematic Metabolic Approach to the Evaluation of Nutrition in Rett Syndrome According to the Cardiorespiratory Phenotype in Dutch Rett Girls

Resource links provided by NLM:

Further study details as provided by Maastricht University Medical Center:

Primary Outcome Measures:
  • 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. ] [ Designated as safety issue: No ]

Biospecimen Retention:   Samples Without DNA
Whole blood, serum, dried blood spot, leukocytes, erythrocytes, urine.

Enrollment: 13
Study Start Date: May 2009
Study Completion Date: October 2009
Primary Completion Date: October 2009 (Final data collection date for primary outcome measure)
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.


Ages Eligible for Study:   2 Years to 20 Years
Genders Eligible for Study:   Female
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
The study population consists of a well-defined group of thirteen Dutch RTT girls with complete clinical, molecular and neurophysiological work-up.

Inclusion Criteria:

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

Exclusion Criteria:

  • Male gender.
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Please refer to this study by its identifier: NCT00786071

University Hospital Maastricht
Maastricht, Limburg, Netherlands, 6229 HX
Sponsors and Collaborators
Maastricht University Medical Center
Study Director: Leopold MG Curfs, Professor Maastricht University Medical Center
Study Director: Eric EJ Smeets, MD, PhD Maastricht University Medical Center
  More Information

Responsible Party: Prof. dr. L.M.G. Curfs, University Hospital Maastricht. Identifier: NCT00786071     History of Changes
Other Study ID Numbers: MEC 08-2-119  NL25356.068.08 
Study First Received: November 4, 2008
Last Updated: March 3, 2010
Health Authority: Netherlands: The Central Committee on Research Involving Human Subjects (CCMO)

Keywords provided by Maastricht University Medical Center:
Rett syndrome.
Nutritional status.
Metabolic alterations.

Additional relevant MeSH terms:
Rett Syndrome
Genetic Diseases, Inborn
Genetic Diseases, X-Linked
Heredodegenerative Disorders, Nervous System
Intellectual Disability
Mental Retardation, X-Linked
Nervous System Diseases
Neurobehavioral Manifestations
Neurologic Manifestations
Pathologic Processes processed this record on May 24, 2016