Metabolic evaluation of nutrition in Rett syndrome: creatine metabolism.

Completed

• Conditions: Rett syndrome; 10083624

• Registration Number: NL-OMON34479
• Lead Sponsor: Medisch Universitair Ziekenhuis Maastricht

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 6 May 2024

Recruitment & Eligibility

• Status: Completed
• Sex: Not specified
• Target Recruitment: 13

Inclusion Criteria

Clinical diagnosis of Rett syndroom according to the diagnostic criteria (Hagberg
et al, 2002)
MECP2-mutation
Complete neurophysiological work-up
Participant preliminary research (NL25356.068.08)

Exclusion Criteria

Male gender

Study & Design

• Study Type: Observational invasive
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>Blood as well as urine samples will be collected to confirm previous findings<br /><br>(plasma and urine creatine concentrations) and perform mutation analysis<br /><br>regarding the SLC6A8 gene. Secondary, a skin biopsy will be collected for<br /><br>functionality investigations regarding creatine transporter.</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>Not applicable. </p><br>