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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

Study Description
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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.


Condition or disease
Rett Syndrome

Study Design
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Study Type : Observational
Estimated Enrollment : 13 participants
Time Perspective: Cross-Sectional
Official Title: Metabolic Evaluation of Nutrition in Rett Syndrome: Creatine Metabolism
Study Start Date : August 2010
Actual Primary Completion Date : January 2011
Actual Study Completion Date : January 2011

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Rett Syndrome

Groups and Cohorts
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Group/Cohort
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.


Outcome Measures
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Primary Outcome Measures :
  1. 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.


Biospecimen Retention:   Samples With DNA
Whole blood, serum, leucocytes, erythrocytes, fibroblasts.

Eligibility Criteria
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Ages Eligible for Study:   3 Years to 20 Years   (Child, Adult)
Sexes Eligible for Study:   Female
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
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.
Criteria

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
Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01198015


Locations
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Netherlands
Maastricht University Medical Center
Maastricht, Limburg, Netherlands, 6202 AZ
Sponsors and Collaborators
Maastricht University Medical Center
Investigators
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Study Director: Leopold MG Curfs, Professor Maastricht University Medical Center
Study Director: Eric EJ Smeets, MD Maastricht University Medical Center
More Information
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Responsible Party: Prof. dr. L.M.G. Curfs, Maastricht University Medical Center
ClinicalTrials.gov Identifier: NCT01198015    
Other Study ID Numbers: NL32481.068.10
MEC-10-2-038 ( Other Identifier: Medical Ethical Committee University Hospital Maastricht )
First Posted: September 9, 2010    Key Record Dates
Last Update Posted: February 17, 2011
Last Verified: February 2011
Keywords provided by Maastricht University Medical Center:
Rett syndrome
Nutritional status
Creatine metabolism
Additional relevant MeSH terms:
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Rett Syndrome
Syndrome
Disease
Pathologic Processes
Mental Retardation, X-Linked
Intellectual Disability
 Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Heredodegenerative Disorders, Nervous System