Creatine Metabolism in Rett Syndrome

NCT01198015 | Completed

• 2 other identifiers: NL32481.068.10MEC-10-2-038
• Study Type: observational
• Target: 13
• Locations: 1 country
• Sites: 1

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.

Conditions

Rett Syndrome

Keywords

Rett syndrome; Nutritional status; Creatine metabolism

Outcome Measures

Primary Outcomes (1)

• 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

Study Arms (1)

Rett syndrome girls

The study population (identical to the population in the preliminary research project) consists of a well-defined group of thirteen Dutch RTT girls with complete clinical, molecular, neurophysiological and metabolic work-up.

Eligibility Criteria

• Age: 3 Years - 20 Years
• Sex: female
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

The study population (identical to the population in the preliminary research project) consists of a well-defined group of thirteen Dutch RTT girls with complete clinical, molecular, neurophysiological and metabolic work-up.

You may qualify if:

• 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).

You may not qualify if:

• Male gender

Sponsors & Collaborators

• Maastricht University Medical Center: lead

Study Sites (1)

Maastricht University Medical Center

Maastricht, Limburg, 6202 AZ, Netherlands

Location

Biospecimen

Retention: SAMPLES WITH DNA

Whole blood, serum, leucocytes, erythrocytes, fibroblasts.

MeSH Terms

Conditions

Rett Syndrome

Condition Hierarchy (Ancestors)

X-Linked Intellectual Disability; Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Heredodegenerative Disorders, Nervous System

Study Officials

• Leopold MG Curfs, Professor

  Maastricht University Medical Center

  STUDY DIRECTOR

• Eric EJ Smeets, MD

  Maastricht University Medical Center

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER

Study Record Dates

• First Submitted: September 2, 2010
• First Posted: September 9, 2010
• Study Start: August 1, 2010
• Primary Completion: January 1, 2011
• Study Completion: January 1, 2011
• Last Updated: February 17, 2011

Record last verified: 2011-02

Locations

NL (1)