Clinical Trial: Creatine Metabolism in Rett Syndrome

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

Official Title: Metabolic Evaluation of Nutrition in Rett Syndrome: Creatine Metabolism

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 Summary:
Sponsor: Maastricht University Medical Center

Current Primary Outcome: Confirm previous findings and examine the functionality of the creatine transporter in RTT girls [ Time Frame: 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.


Original Primary Outcome: Same as current

Current Secondary Outcome:

Original Secondary Outcome:

Information By: Maastricht University Medical Center

Dates:
Date Received: September 2, 2010
Date Started: August 2010
Date Completion:
Last Updated: February 16, 2011
Last Verified: February 2011