Q85.8
Conditions
Interventions
Group 1: In 20 patients with Sturge-Weber Syndrome, diagnosis verified through MR tomography and clinically: we draw a venous blood sample, take a sample with saliva and oral mucosal cells, do a focus
Sponsors
Kinder- und Poliklinik für Kinder und Jugendliche der Universität Regensburg (KUNO), Standort St. Hedwig
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1. clinically diagnosed Sturge-Weber Syndrome type 1, diagnosis made by a board certified physician (any specialty) 2. primary residence in Germany 3.suspected Sturge-Weber Syndrome: inclusion and analysis separately
Exclusion criteria
Exclusion criteria: 1. parents/ patients with insufficient knowledge of German language (< niveau A1) 2. known coagulation disorder
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Number of patients in whom the causative GNAQ mutation is detectable in blood (using liquid biopsy) or in saliva/ oral mucosal cells | — |
Secondary
| Measure | Time frame |
|---|---|
| 1. frequency of mutant allels in relationship with clinical severity 2. concentration of cerebral biomarkers neurofilament (nfl) and glial fibrillary acid protein (gfap) in relationship with clinical severity; both similar to genotype-phenotype correlations | — |
Countries
Germany
Contacts
Public ContactSigrid Disse
Kinder- und Poliklinik für Kinder und Jugendliche der Universität Regensburg (KUNO), Standort St. Hedwig
Outcome results
None listed