Creatine Metabolism in Rett Syndrome

Metabolic Evaluation of Nutrition in Rett Syndrome: Creatine Metabolism

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT01198015

Enrollment

Registered

2010-09-09

Start date

2010-08-31

Completion date

2011-01-31

Last updated

2011-02-17

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Rett Syndrome

Keywords

Rett syndrome, Nutritional status, Creatine metabolism

Brief 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.

Interventions

None listed

Study design

Time perspective

CROSS_SECTIONAL

Eligibility

Sex/Gender

FEMALE

Age

3 Years to 20 Years

Healthy volunteers

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

Design outcomes

Primary

Measure	Time frame	Description
Confirm previous findings and examine the functionality of the creatine transporter in RTT girls	One hour	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.

Countries

Netherlands

Outcome results