Clinical Trial: Metabolic Evaluation of Nutrition in Rett Syndrome

Study Status: Completed
Recruit Status: Completed
Study Type: Observational

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 Summary:
Sponsor: Maastricht University Medical Center

Current Primary Outcome: 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. ]

Original Primary Outcome: 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. ]

Current Secondary Outcome:

Original Secondary Outcome:

Information By: Maastricht University Medical Center

Dates:
Date Received: November 4, 2008
Date Started: May 2009
Date Completion:
Last Updated: March 3, 2010
Last Verified: March 2010