Brief Title
Analysis of Plasma for Diagnosis and Follow-up of Neurofibromatosis Type 1
Official Title
Analysis of Plasma for Diagnosis and Follow-up of Neurofibromatosis Type 1
Brief Summary
The purpose of this study is to find blood plasma based biomarkers of disease progression in
neurofibromatosis type 1 (NF1). NF1 is associated with the development of benign cutaneous
tumors as well as a variety of malignancies. Analysis of plasma DNA and chemical composition
may provide tools for diagnosis and follow-up of NF1. The hypothesis of the study is that
NF1-associated tumor burden and malignant transformation of tumors can be detected in plasma.
To test this hypothesis, Finnish patients with NF1 are recruited and blood sample is taken.
Blood plasma is separated and analyzed chemically. DNA is then also extracted and quantified.
Detailed Description
Neurofibromatosis type 1 (NF1) is a dominant hereditary multiorgan disease that causes both
benign cutaneous neurofibromas and malignant tumors. Timely detection of malignant
transformation in NF1 tumors is of great clinical importance. Also methods to easily monitor
individual's overall tumor burden would be useful. Blood plasma is collected from NF1
patients and age- and gender-matched controls. The samples are stored at -80 C until
analysis. Free circulating plasma DNA is extracted and quantified using commercial reagents.
Also a previously described chemical detection method to observe overall changes in plasma
composition is utilized. The analysis results are compared between NF1 patients and healthy
controls, and also correlated with NF1 tumor burden and diagnosis of malignancy during
five-year follow-up.
Study Type
Observational
Primary Outcome
Ability of free circulating plasma DNA concentration and unspecific chemical detection method to predict overall tumor burden
Condition
Neurofibromatosis 1
Intervention
Blood sample
Study Arms / Comparison Groups
Neurofibromatosis 1
Description: 10 mL venous blood sample taken from patients with type 1 neurofibromatosis
Publications
* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.
Recruitment Information
Recruitment Status
Other
Estimated Enrollment
100
Start Date
January 2016
Completion Date
December 2020
Primary Completion Date
December 2020
Eligibility Criteria
Inclusion Criteria:
- Finnish-speaking
- 18-85 years old
- For NF1 group: Diagnosis of type 1 neurofibromatosis and visit to Turku
Neurofibromatosis Centre
- For control group: Suitable as an age- and gender-matched control for some of the NF1
patients
Exclusion Criteria:
- Non-Finnish-speaking
- For control group: diagnosis of neurofibromatosis type 1 or cancer
Gender
All
Ages
18 Years - 85 Years
Accepts Healthy Volunteers
Accepts Healthy Volunteers
Contacts
Juha Peltonen, Professor, ,
Administrative Informations
NCT ID
NCT02680431
Organization ID
141-1801-2015
Responsible Party
Sponsor-Investigator
Study Sponsor
Juha Peltonen
Study Sponsor
Juha Peltonen, Professor, Principal Investigator, University of Turku
Verification Date
February 2016