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Drivers of Hypoxia-induced Angiogenesis in Tumor Development

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT03979833
Recruitment Status : Enrolling by invitation
First Posted : June 7, 2019
Last Update Posted : September 27, 2019
Odense University Hospital
Information provided by (Responsible Party):
Marie Louise Binderup, University of Copenhagen

Brief Summary:

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

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Study Type : Observational
Estimated Enrollment : 10 participants
Observational Model: Cohort
Time Perspective: Retrospective
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

Group/Cohort Intervention/treatment
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.

Primary Outcome Measures :
  1. Somatic variants [ Time Frame: July 2019-December 2019 ]
    somatic genetic variants

Biospecimen Retention:   Samples With DNA
DNA extracted from periferal blood and CNS hemangioblastomas removed as part of the participants treatment for their condition.

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Living individuals previously identified as having a pathogenic variant in the VHL gene and who have had at least one CNS hemnagioblatoma removed.

Inclusion Criteria:

  • Currently living, carrier of a pathogenic variant in the VHL gene, at least one surgically removed CNS hemangioblastoma that is accessible for the study.

Exclusion Criteria:

  • Under the age of 18 years, deceased individuals

Information from the National Library of Medicine

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 identifier (NCT number): NCT03979833

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Department of Cellular and Molecular Medicine
Copenhagen, Denmark, 2200
Odense University hospital, department of clinical genetics
Odense, Denmark, 5000
Sponsors and Collaborators
University of Copenhagen
Odense University Hospital
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Study Director: Ole William Petersen, MD, PhD Head of department

Sun M, Monzon F, Zhou L et al. Identification of molecular drivers of human hemangioblastoma. Conference abstract: The 11th International VHL Symposium 2014 . 23-10-2014.

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Responsible Party: Marie Louise Binderup, Postdoc researcher, University of Copenhagen Identifier: NCT03979833    
Other Study ID Numbers: 514-0356/19-3000
First Posted: June 7, 2019    Key Record Dates
Last Update Posted: September 27, 2019
Last Verified: September 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Von Hippel-Lindau Disease
Signs and Symptoms, Respiratory
Signs and Symptoms
Neurocutaneous Syndromes
Nervous System Diseases
Vascular Diseases
Cardiovascular Diseases
Abnormalities, Multiple
Congenital Abnormalities
Genetic Diseases, Inborn