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Metabolic Evaluation of Nutrition in Rett Syndrome

NCT00786071 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 13

Last updated 2010-03-04

No results posted yet for this study

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.

Conditions

Sponsors & Collaborators

  • Maastricht University Medical Center

    lead OTHER

Principal Investigators

  • Leopold MG Curfs, Professor · Maastricht University Medical Center

  • Eric EJ Smeets, MD, PhD · Maastricht University Medical Center

Eligibility

Min Age
2 Years
Max Age
20 Years
Sex
FEMALE
Healthy Volunteers
No

Timeline & Regulatory

Start
2009-05-31
Primary Completion
2009-10-31
Completion
2009-10-31

Countries

  • Netherlands

Study Locations

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Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT00786071 on ClinicalTrials.gov