NCT01198015|Completed
Creatine Metabolism in Rett Syndrome
Metabolic Evaluation of Nutrition in Rett Syndrome: Creatine Metabolism
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Metabolic Evaluation of Nutrition in Rett Syndrome: Creatine Metabolism
Sponsor study identifier
Secondary identifiers
OTHER · Medical Ethical Committee University Hospital Maastricht
observational
13
1 country
1
Study Start
August 2010
Date type not reportedThis date has not been verified as actual or estimated.
Primary Completion
January 2011
Actual (reported)Study Completion
January 2011
Actual (reported)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.
Registry-reported information. Elapsed time and enrollment totals alone do not measure study progress or recruitment pace.
January 2011
Actual (reported)Click on a node to explore related trials.
Dates and qualifiers reported by the registry. Estimated dates do not confirm that a milestone has occurred.
August 2010
Date type not reportedThis date has not been verified as actual or estimated.
September 2, 2010
Actual (reported)September 9, 2010
Actual (reported)January 2011
Actual (reported)January 2011
Actual (reported)Confirm previous findings and examine the functionality of the creatine transporter in RTT girls
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.
One hour
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.
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, 6202 AZ, Netherlands
Whole blood, serum, leucocytes, erythrocytes, fibroblasts.
Leopold MG Curfs, Professor
Maastricht University Medical Center
Eric EJ Smeets, MD
Maastricht University Medical Center
First Submitted
September 2, 2010
First Posted
September 9, 2010
Study Start
August 2010
Date type not reportedThis date has not been verified as actual or estimated.
Primary Completion
January 2011
Actual (reported)Independent Studies of Dextromethorphan and of Donepezil Hydrochloride for Rett Syndrome
Contact the study team to confirm eligibility.
Study Completion
January 2011
Actual (reported)Last Updated
February 17, 2011
Record last verified: 2011-02
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