Creatine Metabolism in Rett Syndrome

Completed

• Conditions: Rett Syndrome

• Registration Number: NCT01198015
• Lead Sponsor: 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 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.

Detailed Description

Not available

Study Timeline

• Study Start: 2010-08
• Study First Submitted: 2010-09-02
• Study First Submitted QC: 2010-09-08
• Study First Posted: 2010-09-09
• Primary Completion: 2011-01
• Study Completion: 2011-01
• Status Verified: 2011-02
• Last Update Submitted: 2011-02-16
• Last Update Posted: 2011-02-17

Recruitment & Eligibility

• Status: COMPLETED
• Sex: Female
• Target Recruitment: 13

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).

Exclusion Criteria

• Male gender

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Confirm previous findings and examine the functionality of the creatine transporter in RTT girls	One hour	Blood as well as urine samples will be collected to confirm previous findings concerning plasma and urine creatine concentrations. Furthermore, blood samples will be used to perform mutation analysis of the SCL6A8 gene. Secondary, a skin biopsy will be collected for functional studies regarding the creatine transporter in RTT girls. By comparing intracellular and extracellular creatine concentrations, one can assess the functionality of the creatine transporter.

Trial Locations

Locations (1)

Maastricht University Medical Center; 🇳🇱 Maastricht, Limburg, Netherlands