Biochemical characterisation of TSC1 and TSC2 variants identified in patients with tuberous sclerosis complex

Completed

• Conditions: tuberous sclerosis complex; Bourneville's disease; 10083624

• Registration Number: NL-OMON31326
• Lead Sponsor: Erasmus MC, Universitair Medisch Centrum Rotterdam

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 19 August 2024

Recruitment & Eligibility

• Status: Completed
• Sex: Not specified
• Target Recruitment: 20

Inclusion Criteria

Individuals with tuberous sclerosis complex in whom potential splice site mutations have been identified will be asked to provide a skin biopsy.

Exclusion Criteria

Individuals with tuberous sclerosis complex where the routine, diagnostic genetic/DNA analysis has identified the pathogenic mutation.

Study & Design

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

Primary Outcome Measures

Name	Time	Method
<p>Studies are performed when unclassified TSC1 or TSC2 variants have been<br /><br>identified. Study endpoint is the determination of pathogenicity of the TSC1<br /><br>and TSC2 gene variants in individuals with TSC.</p><br>

Secondary Outcome Measures

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