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Creatine Metabolism in Rett Syndrome

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ClinicalTrials.gov Identifier: NCT01198015
Recruitment Status : Completed
First Posted : September 9, 2010
Last Update Posted : February 17, 2011
Sponsor:
Information provided by:
Maastricht University Medical Center

September 2, 2010
September 9, 2010
February 17, 2011
August 2010
January 2011   (Final data collection date for primary outcome measure)
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.
Same as current
Complete list of historical versions of study NCT01198015 on ClinicalTrials.gov Archive Site
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Creatine Metabolism in Rett Syndrome
Metabolic Evaluation of Nutrition in Rett Syndrome: Creatine Metabolism

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.

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Observational
Time Perspective: Cross-Sectional
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Retention:   Samples With DNA
Description:
Whole blood, serum, leucocytes, erythrocytes, fibroblasts.
Non-Probability Sample
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.
Rett Syndrome
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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.
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*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Completed
13
Same as current
January 2011
January 2011   (Final data collection date for primary outcome measure)

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
Sexes Eligible for Study: Female
3 Years to 20 Years   (Child, Adult)
No
Contact information is only displayed when the study is recruiting subjects
Netherlands
 
 
NCT01198015
NL32481.068.10
MEC-10-2-038 ( Other Identifier: Medical Ethical Committee University Hospital Maastricht )
No
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Prof. dr. L.M.G. Curfs, Maastricht University Medical Center
Maastricht University Medical Center
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Study Director: Leopold MG Curfs, Professor Maastricht University Medical Center
Study Director: Eric EJ Smeets, MD Maastricht University Medical Center
Maastricht University Medical Center
February 2011