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Creatine Metabolism in Rett Syndrome

This study has been completed.
Sponsor:
Information provided by:
Maastricht University Medical Center
ClinicalTrials.gov Identifier:
NCT01198015
First received: September 2, 2010
Last updated: February 16, 2011
Last verified: February 2011
  Purpose

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
Rett Syndrome

Study Type: Observational
Study Design: Time Perspective: Cross-Sectional
Official Title: Metabolic Evaluation of Nutrition in Rett Syndrome: Creatine Metabolism

Resource links provided by NLM:


Further study details as provided by Maastricht University Medical Center:

Primary Outcome Measures:
  • 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.


Estimated Enrollment: 13
Study Start Date: August 2010
Study Completion Date: January 2011
Primary Completion Date: January 2011 (Final data collection date for primary outcome measure)
Groups/Cohorts
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.

  Eligibility

Ages Eligible for Study:   3 Years to 20 Years
Genders 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
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01198015

Locations
Netherlands
Maastricht University Medical Center
Maastricht, Limburg, Netherlands, 6202 AZ
Sponsors and Collaborators
Maastricht University Medical Center
Investigators
Study Director: Leopold MG Curfs, Professor Maastricht University Medical Center
Study Director: Eric EJ Smeets, MD Maastricht University Medical Center
  More Information

No publications provided

Responsible Party: Prof. dr. L.M.G. Curfs, Maastricht University Medical Center
ClinicalTrials.gov Identifier: NCT01198015     History of Changes
Other Study ID Numbers: NL32481.068.10, MEC-10-2-038
Study First Received: September 2, 2010
Last Updated: February 16, 2011
Health Authority: Netherlands: The Central Committee on Research Involving Human Subjects (CCMO)

Keywords provided by Maastricht University Medical Center:
Rett syndrome
Nutritional status
Creatine metabolism

Additional relevant MeSH terms:
Rett Syndrome
Syndrome
Disease
Genetic Diseases, Inborn
Genetic Diseases, X-Linked
Heredodegenerative Disorders, Nervous System
Intellectual Disability
Mental Retardation, X-Linked
Nervous System Diseases
Neurobehavioral Manifestations
Neurodegenerative Diseases
Neurologic Manifestations
Pathologic Processes

ClinicalTrials.gov processed this record on November 27, 2014