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

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ClinicalTrials.gov Identifier: NCT02680431
Recruitment Status : Enrolling by invitation
First Posted : February 11, 2016
Last Update Posted : February 11, 2016
Sponsor:
Information provided by (Responsible Party):
Juha Peltonen, Turku University Hospital

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.

Condition or disease Intervention/treatment
Neurofibromatosis 1 Other: Blood sample

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
Estimated Enrollment : 100 participants
Observational Model: Case Control
Time Perspective: Prospective
Official Title: Analysis of Plasma for Diagnosis and Follow-up of Neurofibromatosis Type 1
Study Start Date : January 2016
Estimated Primary Completion Date : December 2020
Estimated Study Completion Date : December 2020


Group/Cohort Intervention/treatment
Neurofibromatosis 1
10 mL venous blood sample taken from patients with type 1 neurofibromatosis
Other: Blood sample
10 mL venous blood sample for analysis of plasma

Control
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




Primary Outcome Measures :
  1. 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

  2. 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


Biospecimen Retention:   Samples With DNA
Free circulating DNA extracted from blood plasma


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Ages Eligible for Study:   18 Years to 85 Years   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Patients visiting Turku Neurofibromatosis Centre (Finland) for care of their disease. Controls are healthy volunteers from Turku area.
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

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): NCT02680431


Sponsors and Collaborators
Juha Peltonen
Investigators
Principal Investigator: Juha Peltonen, Professor University of Turku

Responsible Party: Juha Peltonen, Professor, Turku University Hospital
ClinicalTrials.gov Identifier: NCT02680431     History of Changes
Other Study ID Numbers: 141-1801-2015
First Posted: February 11, 2016    Key Record Dates
Last Update Posted: February 11, 2016
Last Verified: February 2016
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided
Plan Description: Molecular biology results and relevant clinical information will be shared along publication. Some clinical information is subject to privacy issues and cannot be shared.

Additional relevant MeSH terms:
Neurofibromatoses
Neurofibromatosis 1
Neurofibroma
Genetic Diseases, Inborn
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
Peripheral Nervous System Diseases
Neuromuscular Diseases
Peripheral Nervous System Neoplasms
Nervous System Neoplasms