Epidemiology, diagnosis and clinical picture of PHACE Syndrome and Sturge-Weber Syndrome in Germany, Switzerland and Austria

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

DRKS

Registry ID

DRKS00013551

Enrollment

150

Registered

2017-12-27

Start date

2018-01-25

Completion date

Unknown

Last updated

2025-04-07

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

Conditions

Q28.8 Q85.8

Interventions

Group 1: Parents with a child affected by PHACE Syndrome or Sturge-Weber Syndrome once receive a questionnaire on the child's symptoms, the diagnostic procedures carried out until now, anomalies known

Eligibility

Sex/Gender

All

Age

No minimum to 18 Years

Inclusion criteria

Inclusion criteria: Positive Diagnosis of "PHACE Syndrome" OR "Sturge-Weber Syndrome" by a medical doctor, e.g. pediatrician, family physician, geneticist

Exclusion criteria

Exclusion criteria: None

Design outcomes

Primary

Measure	Time frame
Prevalence of PHACE Syndrome and Sturge-Weber Syndrome in Germany, Switzerland and Austria (treatment prevalence). As a first step, we contact neuropediatricians in Germany, Switzerland and Austria via email, who recruit affected families. Then, we assess medical data via questionnaire handed out to the families and neuropediatricians.	—

Secondary

Measure	Time frame
Data assessment via once-only questionnaire handed out to affected families and neuropediatricians: prenatal risk factors and anomalies, clinical symptoms, diagnostic procedures including genetic analyses, therapy strategies and their effectiveness	—

Countries

Austria, Germany, Switzerland

Contacts

Public ContactSigrid Disse

Klinik für Allgemeine Pädiatrie und NeonatologieUniversitätsklinikum des Saarlandes

sigrid.disse@uks.eu+49 6841 1628000

Outcome results

None listed

Source: DRKS (via WHO ICTRP) · Data processed: Feb 4, 2026