Creatine Metabolism in Rett Syndrome

N/ACompletedNCT01198015

Maastricht University Medical Center13 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

Conditions

Rett Syndrome

Eligibility

Sex: FEMALEMin age: 3 YearsMax age: 20 Years

Medical Language ↔ Plain English

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

Locations (1)

Maastricht University Medical Center

Maastricht, Limburg, Netherlands

Outcomes

Primary Outcomes

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.

Time frame: One hour