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

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

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON31326

Enrollment

Registered

2007-07-05

Start date

2008-07-01

Completion date

Unknown

Last updated

2024-08-19

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

Conditions

tuberous sclerosis complex

Interventions

None listed

Eligibility

Age

2 Years to 99 Years

Inclusion criteria

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

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

Design outcomes

Primary

Measure	Time frame
Studies are performed when unclassified TSC1 or TSC2 variants have been identified. Study endpoint is the determination of pathogenicity of the TSC1 and TSC2 gene variants in individuals with TSC.	—

Countries

Netherlands

Outcome results