Drivers of Hypoxia-induced Angiogenesis in Tumor Development
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|ClinicalTrials.gov Identifier: NCT03979833|
Recruitment Status : Enrolling by invitation
First Posted : June 7, 2019
Last Update Posted : September 27, 2019
The study aims to elucidate hypoxia-induced angiogenesis in tumor development using central nervous system (CNS) hemangioblastoma tumorgenesis as a model.
In a pilot-project the investigators will identify genetic drivers of CNS hemangioblastoma progression and associated cyst development using whole genome sequencing and copy number profiling of tumor DNA paired with clinical information about each tumor's growth pattern. The investigators will look for recurrent mutations across tumors to identify common genetic mechanisms involved in early tumorigenesis.
|Condition or disease||Intervention/treatment|
|Von Hippel-Lindau Disease||Genetic: Whole exome sequencing|
|Study Type :||Observational|
|Estimated Enrollment :||10 participants|
|Official Title:||Drivers of Hypoxia-induced Angiogenesis in Tumor Development|
|Actual Study Start Date :||June 14, 2019|
|Actual Primary Completion Date :||August 31, 2019|
|Estimated Study Completion Date :||May 31, 2020|
Individuals currently living, over the age of 18 years and known carriers of a pathogenic variant in the VHL gene.
Genetic: Whole exome sequencing
DNA from CNS hemangioblastomas and normal tissue (blood) will be analysed using whole exome sequencing.
- Somatic variants [ Time Frame: July 2019-December 2019 ]somatic genetic variants
Biospecimen Retention: Samples With DNA
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03979833
|Department of Cellular and Molecular Medicine|
|Copenhagen, Denmark, 2200|
|Odense University hospital, department of clinical genetics|
|Odense, Denmark, 5000|
|Study Director:||Ole William Petersen, MD, PhD||Head of department|