Creatine Metabolism in Rett Syndrome
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.
|Study Design:||Time Perspective: Cross-Sectional|
|Official Title:||Metabolic Evaluation of Nutrition in Rett Syndrome: Creatine Metabolism|
- Confirm previous findings and examine the functionality of the creatine transporter in RTT girls [ Time Frame: One hour ] [ Designated as safety issue: No ]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.
Biospecimen Retention: Samples With DNA
Whole blood, serum, leucocytes, erythrocytes, fibroblasts.
|Study Start Date:||August 2010|
|Study Completion Date:||January 2011|
|Primary Completion Date:||January 2011 (Final data collection date for primary outcome measure)|
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.
|Maastricht University Medical Center|
|Maastricht, Limburg, Netherlands, 6202 AZ|
|Study Director:||Leopold MG Curfs, Professor||Maastricht University Medical Center|
|Study Director:||Eric EJ Smeets, MD||Maastricht University Medical Center|