MedTrace Logo

Assessment of Residual VHL Function in Tumors - Can it Predict the Patients' Individual Course of Disease?

NCT02207686 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 50

Last updated 2015-11-13

No results posted yet for this study

Summary

The investigators aim to analyze tumors from vHL patients who have different courses of disease and different types of VHL gene alterations to characterize which types of genetic alterations the tumors contain and how these alterations affect the tumor cells' behavior on a molecular level. The investigators will then compare these observations to vHL disease outcome in patients and families.

It is already known that most vHL tumors develop when both copies of the VHL gene in a cell are inactivated. The first copy is inactivated in all the person's cells from birth ("first hit"), leaving just one functional copy. A tumor can develop from cells where the second copy is also inactivated ("second hit"). So far, only the molecular consequences of the first hit have been investigated. It is our hypothesis that both the first and second hits in combination have consequences for tumor development and clinical outcome. The investigators will include tumors from patients with different disease courses and different types of "first hits" and analyse the tumors' DNA in order to find correlations between the first and second hits and patients' and families' medical histories. The investigators hereby hope to give new insights into how vHL tumors grow and which genetic factors influence tumor development. These results will contribute to the current knowledge of vHL and help us get one step closer to be able to predict an individual's tumor risks and need for surveillance.

Conditions

  • Von Hippel-Lindaus Disease

Sponsors & Collaborators

  • Marie Luise Bisgaard, MD

    lead OTHER

Principal Investigators

  • Marie Luise Bisgaard, MD · Department of Cellular and Molecular Medicine, University of Copenhagen

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2014-09-30
Primary Completion
2016-08-31
Completion
2017-08-31

Countries

  • Denmark

Study Locations

More Related Trials

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02207686 on ClinicalTrials.gov