Q85.8
Conditions
Interventions
Group 1: Patients with VHL disease based on clinical criteria or genetic testing .
Age, gender, molecular genetic diagnosis and clinical data from regular tumour screening examinations will be collect
Sponsors
Universitätsklinikum Freiburg
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: clinical VHL diagnosis or identification of a VHL germline mutation
Exclusion criteria
Exclusion criteria: Lack of clinical data, no molecular screening, Belzutifan therapy
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Recording of tumor manifestations: hemangioblastoma of the retina and central nervous system, RCC, pNET, pheochromocytoma, and ELST. Screening for VHL manifestations starts with ophthalmoscopy at age 6 and CNS and abdominal imaging at age 12. In adulthood, screening for tumour manifestations takes place at least every 2 years. | — |
Secondary
| Measure | Time frame |
|---|---|
| treatment procedures and outcomes (occurrence of metastases of RCC, pNETs or phaeochromocytoma/paraganglioma, loss of function of one or both eyes, one or both ears, permanent severe CNS deficits, kidney failure, steroid dependency, and postoperative pancreas dysfunction) | — |
Countries
Argentina, Belgium, Brazil, Chile, China, France, Germany, India, Italy, Netherlands, Poland, Portugal, Russia, Serbia, Singapore, Sweden, Switzerland, Thailand, Turkey, United Kingdom, United States
Contacts
Public ContactElke Neumann-Haefelin
Universitätklinikum Freiburg
Outcome results
None listed