Creatine Metabolism in Rett Syndrome

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

13 participants

Study Classification

OBSERVATIONAL

Study Start Date

2010-08-31

Study Completion Date

2011-01-31

Brief Summary

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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 role in this, other constitutional factors as altered metabolic processes are suspected. Preliminary research showed elevated plasma creatine concentrations and increased urinary creatine/creatinine ratios in half of the RTT girls.

The aim of this study is to confirm previous findings and examine the functionality of the creatine transporter in RTT girls.

The investigators assume that previous findings will be confirmed, and are due to an altered functionality of the creatine transporter.

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Detailed Description

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Conditions

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Rett Syndrome

Study Design

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Study Time Perspective

CROSS_SECTIONAL

Study Groups

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Rett syndrome girls

The study population (identical to the population in the preliminary research project) consists of a well-defined group of thirteen Dutch RTT girls with complete clinical, molecular, neurophysiological and metabolic work-up.

No interventions assigned to this group

Eligibility Criteria

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Inclusion Criteria

* Clinical diagnosis of RTT (meeting consensus diagnostic criteria (Hagberg et al, 2002));
* MECP2-mutation;
* Complete neurophysiological work-up;
* Participant preliminary research (research protocol NL25356.068.08).