Clinical Trial: Analysis of Plasma for Diagnosis and Follow-up of Neurofibromatosis Type 1

Study Status: Enrolling by invitation
Recruit Status: Enrolling by invitation
Study Type: Observational

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 Summary: 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.
Sponsor: Juha Peltonen

Current Primary Outcome:

  • Ability of free circulating plasma DNA concentration and unspecific chemical detection method to predict overall tumor burden [ Time Frame: Up to 5 years ]
    Tumor burden assessed by clinician on a four-level scale: 1 = 0-5 neurofibromas, 2 = 6-99 neurofibromas, 3 = 100-500 neurofibromas, 4 = over 500 neurofibromas
  • Ability of free circulating plasma DNA concentration and unspecific chemical detection method to predict clinical diagnosis of malignancy [ Time Frame: Up to 5 years ]
    Information on clinical diagnoses is obtained from patient records


Original Primary Outcome: Same as current

Current Secondary Outcome:

Original Secondary Outcome:

Information By: Turku University Hospital

Dates:
Date Received: January 15, 2016
Date Started: January 2016
Date Completion: December 2020
Last Updated: February 8, 2016
Last Verified: February 2016