An observational study in Neurofibromatosis 1, sponsored by Juha Peltonen. Status unknown. Open to participants aged 18 Years to 85 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2016-02-11.
Sponsored by Juha Peltonen · Observational
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.
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.
186 studies on the registry are indexed under Neurofibromatoses; 24 are open to participants now.
This study's planned enrollment of 100 is above the median of 78 across 56 observational studies indexed under Neurofibromatoses.
Browse Neurofibromatoses studies →This is the only study on the registry with Juha Peltonen as lead sponsor.
Counted across the registry records on this site, refreshed daily.
Patients visiting Turku Neurofibromatosis Centre (Finland) for care of their disease. Controls are healthy volunteers from Turku area.
Exclusion Criteria:
10 mL venous blood sample taken from patients with type 1 neurofibromatosis
Other: Blood sample
10 mL venous blood sample taken from age- and gender-matched healthy controls
Other: Blood sample
10 mL venous blood sample for analysis of plasma
Ability of free circulating plasma DNA concentration and unspecific chemical detection method to predict overall tumor burden
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
Time frame: Up to 5 years
Ability of free circulating plasma DNA concentration and unspecific chemical detection method to predict clinical diagnosis of malignancy
Information on clinical diagnoses is obtained from patient records
Time frame: Up to 5 years
No study locations are listed for this record.
Plan to share: Undecided — Molecular biology results and relevant clinical information will be shared along publication. Some clinical information is subject to privacy issues and cannot be shared.
No publications or documents are linked to this record.
This study is status unknown, as verified in Feb 2016. You cannot join it, but the record below documents what was studied.
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