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Metabolic Evaluation of Nutrition in Rett Syndrome

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ClinicalTrials.gov Identifier: NCT00786071
Recruitment Status : Completed
First Posted : November 5, 2008
Last Update Posted : March 4, 2010
Sponsor:
Information provided by:
Maastricht University Medical Center

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.


Condition or disease
Rett Syndrome

Study Type : Observational
Actual Enrollment : 13 participants
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
Study Start Date : May 2009
Actual Primary Completion Date : October 2009
Actual Study Completion Date : October 2009

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Rett Syndrome
U.S. FDA Resources

Group/Cohort
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.



Primary Outcome Measures :
  1. 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. ]

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


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Ages Eligible for Study:   2 Years to 20 Years   (Child, Adult)
Sexes 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.
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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00786071


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

Publications:
Responsible Party: Prof. dr. L.M.G. Curfs, University Hospital Maastricht.
ClinicalTrials.gov Identifier: NCT00786071     History of Changes
Other Study ID Numbers: MEC 08-2-119
NL25356.068.08 ( Other Identifier: Medical Ethical Committee University Hospital of Maastricht )
First Posted: November 5, 2008    Key Record Dates
Last Update Posted: March 4, 2010
Last Verified: March 2010

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

Additional relevant MeSH terms:
Syndrome
Rett Syndrome
Disease
Pathologic Processes
Mental Retardation, X-Linked
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Heredodegenerative Disorders, Nervous System