G40.4 G24.9
Conditions
Interventions
Group 1: Patients carrying the GNAO1 mutation are recorded by questionnaire at the time (T0) and included in the registry. After 3 years, patients are contacted again (T1) for Folllow up.
Sponsors
Uniklinik Köln; Klinik und Poliklinik für Kinder- und Jugendmedizin; Sozialpädiatrisches Zentrum;
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: Detection of a known pathogenic GANO1 mutation or variant of unknown significance in the GANO1 gene and clinical symptoms likely to be consistent with GNAO1 associated disease
Exclusion criteria
Exclusion criteria: Inability to obtain informed consent from parents or adult subjects
Design outcomes
Secondary
| Measure | Time frame |
|---|---|
| Recording and evaluating the natural history of the disease and the therapies used | — |
Primary
| Measure | Time frame |
|---|---|
| By comparing the mutations and clinical symptoms in patients with GNAO1 mutations, we want to determine whether a reliable genotype-phenotype correlation can be established. This would be a basis for therapy decisions and the future counseling of affected families. These data could present the clinical data as a basis for future clinical trials. | — |
Countries
Germany, Switzerland
Contacts
Public ContactMoritz Thiel
Uniklinik KölnKlinik und Poliklinik für Kinder- und Jugendmedizin; Sozialpädiatrisches Zentrum Gebäude 70
Outcome results
None listed