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

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT00786071

Enrollment

Registered

2008-11-05

Start date

2009-05-31

Completion date

2009-10-31

Last updated

2010-03-04

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Rett Syndrome

Keywords

Rett syndrome., Nutritional status., Metabolic alterations.

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.

Interventions

None listed

Study design

Time perspective

CROSS_SECTIONAL

Eligibility

Sex/Gender

FEMALE

Age

2 Years to 20 Years

Healthy volunteers

Inclusion criteria

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

Exclusion criteria

* Male gender.

Design outcomes

Primary

Measure	Time frame
1. What is the nutritional status of the RTT girls? 2. Can metabolic alterations caused by chronic respiratory acidosis or alkalosis be detected?	Once.

Countries

Netherlands

Outcome results