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Microarray CGH Analysis of Circulating Tumoral Plasma DNA in NF1 Patients With MPNSTs

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ClinicalTrials.gov Identifier: NCT01218152
Recruitment Status : Unknown
Verified October 2010 by KU Leuven.
Recruitment status was:  Active, not recruiting
First Posted : October 11, 2010
Last Update Posted : October 11, 2010
Sponsor:
Information provided by:
KU Leuven

Brief Summary:
Neurofibromatosis type 1 (NF1) is a frequent autosomal dominant disorder, caused by heterozygous mutations of the NF1 tumor suppressor gene (chr.17q11.2). One of the main clinical features is the development of benign and malignant tumors. The most common benign tumors in these patients are tumors of the peripheral nerve, named neurofibromas. Every NF1 patient has a life time risk of 8-13% to develop a malignant peripheral nerve sheath tumor (MPNST) starting from a pre-existing neurofibroma. MPNSTs lead to a bad prognosis for the patient, with an overall five-year survival of less than 25%. Complete resection is the standard treatment, but this is often difficult due to the size of the tumors and the location on important nerves, moreover the tumor is frequently metastatic at the time of diagnosis. For MPNSTs, like for other cancers, the extent and the spread of the disease at time of diagnosis is an important factor in determining treatment outcome. In this regard, the analysis of tumor derived cell-free circulating DNA in plasma of NF1 patients would open up the possibility to diagnose and monitor the development and progression of MPNSTs using a small blood sample. In cooperation with P. Schöffski (UZLeuven), we plan to collect blood samples from cancer patients to optimize the DNA extraction procedure starting from plasma samples. It is known that patients with cancer have a higher amount of free circulating DNA in plasma than individuals without cancer and therefore we want to optimize the DNA extraction procedure on plasma from patients with cancer. In the meantime, matching MPNST and plasma samples from NF1 patients will be collected and sent to us from the University of Eppendorf (Victor Mautner) to optimize the array CGH protocol for the detection of copy number changes in plasma DNA of NF1 patients with MPNSTs.

Condition or disease
Neurofibromatosis Type 1

  Show Detailed Description

Study Type : Observational
Estimated Enrollment : 20 participants
Time Perspective: Prospective
Official Title: Analysis of Circulating Tumor DNA in Plasma of Neurofibromatosis Type 1 Patients With MPNSTs Using Microarray CGH
Study Start Date : October 2010
Estimated Primary Completion Date : June 2011
Estimated Study Completion Date : December 2011


Group/Cohort
cancer patients
patients who are seen by oncologists and who are willing to donate an extra blood sample when blood is taken routinely
NF1 patients
patients, who have neurofibromatosis type 1 and who have developped an MPNST,donating a blood sample




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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
cancer patients who are seen in the UZLeuven oncology clinic NF1 patients who are seen in Germany by Prof. Mautner
Criteria

Inclusion Criteria:

  • according to NF1 criteria

Exclusion Criteria:

  • NF1 patients where the tumor is already removed

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 ClinicalTrials.gov identifier (NCT number): NCT01218152


Locations
Belgium
KULeuven/UZLeuven
Leuven, Vlaams-Brabant, Belgium, 3000
Sponsors and Collaborators
KU Leuven
Investigators
Principal Investigator: Eric Legius, MD PhD KUL/UZ

Responsible Party: Eric Legius, KUL/UZ
ClinicalTrials.gov Identifier: NCT01218152     History of Changes
Other Study ID Numbers: LEGIUS_002
First Posted: October 11, 2010    Key Record Dates
Last Update Posted: October 11, 2010
Last Verified: October 2010

Keywords provided by KU Leuven:
NF1
MPNST
plasma
microarray CGH

Additional relevant MeSH terms:
Neurofibromatoses
Neurofibromatosis 1
Neurofibroma
Nerve Sheath Neoplasms
Neoplasms, Nerve Tissue
Neoplasms by Histologic Type
Neoplasms
Neoplastic Syndromes, Hereditary
Neurocutaneous Syndromes
Nervous System Diseases
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Genetic Diseases, Inborn
Peripheral Nervous System Diseases
Neuromuscular Diseases
Peripheral Nervous System Neoplasms
Nervous System Neoplasms