Creatine transporter defect in females.

• Conditions: creatine transporter defect; 10029299; 10021605; 10057167

• Registration Number: NL-OMON31374
• Lead Sponsor: Vrije Universiteit Medisch Centrum

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 13 May 2024

Recruitment & Eligibility

• Status: Pending
• Sex: Not specified
• Target Recruitment: 15

Inclusion Criteria

proven carrier of pathogenic mutation in creatine transporter gene.

Exclusion Criteria

no informed consent.

Study & Design

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

Primary Outcome Measures

Name	Time	Method
<p>The investigations will consist of 1.medical and family history, 2.physical<br /><br>examination, 3. laboratory analysis which will included biochemical analysis of<br /><br>urine and blood, X-inactivation studies in blood, hairs and saliva, RNA<br /><br>analysis of the creatine transporter gene and creatine uptake studies in<br /><br>fibroblasts and EBV-transformed lymphocytes, 4.1H-MRS of brain and 5. a<br /><br>neuropsychologic evaluation.</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>not appicable</p><br>