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 ]
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