Creatine Metabolism in Rett Syndrome

Rett Syndrome Clinical Trial

Official title:

Metabolic Evaluation of Nutrition in Rett Syndrome: Creatine Metabolism

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01198015
• Other study ID #: NL32481.068.10
• Secondary ID: MEC-10-2-038
• Status: Completed
• Phase: N/A
• First received: September 2, 2010
• Last updated: February 16, 2011
• Start date: August 2010
• Est. completion date: January 2011

Study information

• Verified date: February 2011
• Source: Maastricht University Medical Center
• Contact: n/a
• Is FDA regulated: No
• Health authority: Netherlands: The Central Committee on Research Involving Human Subjects (CCMO)
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 13
• Est. completion date: January 2011
• Est. primary completion date: January 2011
• Accepts healthy volunteers: No
• Gender: Female
• Age group: 3 Years to 20 Years

Eligibility

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

Study Design

Time Perspective: Cross-Sectional

Related Conditions & MeSH terms

• Rett Syndrome
• Syndrome

Locations

Country	Name	City	State
Netherlands	Maastricht University Medical Center	Maastricht	Limburg

Sponsors (1)

Lead Sponsor	Collaborator
Maastricht University Medical Center

Country where clinical trial is conducted

Netherlands, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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	No