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

NCT02680431 | Unknown

• 1 other identifier: 141-1801-2015
• Study Type: observational
• Target: 100
• Locations: 0 countries
• Sites: N/A

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.

Conditions

Neurofibromatosis 1

Outcome Measures

Primary Outcomes (2)

• 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

  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

  Up to 5 years

Study Arms (2)

Neurofibromatosis 1

10 mL venous blood sample taken from patients with type 1 neurofibromatosis

Other: Blood sample

Control

10 mL venous blood sample taken from age- and gender-matched healthy controls

Other: Blood sample

Interventions

Blood sample OTHER

10 mL venous blood sample for analysis of plasma

Control; Neurofibromatosis 1

Eligibility Criteria

• Age: 18 Years - 85 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• Finnish-speaking
• 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

You may not qualify if:

• Non-Finnish-speaking
• For control group: diagnosis of neurofibromatosis type 1 or cancer

Sponsors & Collaborators

• Juha Peltonen: lead

Biospecimen

Retention: SAMPLES WITH DNA

Free circulating DNA extracted from blood plasma

MeSH Terms

Conditions

Neurofibromatosis 1

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

Neurofibromatoses; 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; Peripheral Nervous System Diseases; Neuromuscular Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Study Officials

• Juha Peltonen, Professor

  University of Turku

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER GOV
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Professor

Study Record Dates

• First Submitted: January 15, 2016
• First Posted: February 11, 2016
• Study Start: January 1, 2016
• Primary Completion: December 1, 2020
• Study Completion: December 1, 2020
• Last Updated: February 11, 2016

Record last verified: 2016-02