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Creatine Metabolism in Rett Syndrome

NCT01198015 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 13

Last updated 2011-02-17

No results posted yet for this study

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.

Conditions

Sponsors & Collaborators

  • Maastricht University Medical Center

    lead OTHER

Principal Investigators

  • Leopold MG Curfs, Professor · Maastricht University Medical Center

  • Eric EJ Smeets, MD · Maastricht University Medical Center

Eligibility

Min Age
3 Years
Max Age
20 Years
Sex
FEMALE
Healthy Volunteers
No

Timeline & Regulatory

Start
2010-08-31
Primary Completion
2011-01-31
Completion
2011-01-31

Countries

  • Netherlands

Study Locations

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Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01198015 on ClinicalTrials.gov