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

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

UNKNOWN

Total Enrollment

100 participants

Study Classification

OBSERVATIONAL

Study Start Date

2016-01-31

Study Completion Date

2020-12-31

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

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.

Related Clinical Trials

Explore similar clinical trials based on study characteristics and research focus.

Natural History Study of Cutaneous Neurofibromas in People With NF1

NCT05581511

Neurofibromatosis Type 1 Neurofibromatosis 1 Neurofibromatosis (Nonmalignant) +1 more

ACTIVE_NOT_RECRUITING

Targeting the Mechanisms Underlying Cutaneous Neurofibroma Formation in NF1: A Clinical Translational Approach.

NCT02777775

Cutaneous Neurofibromas Neurofibromatosis Type 1 Plexiform Neurofibromas

COMPLETED

Biomarker for Hyaline Fibromatosis Syndrome (BioHFS)

NCT03196115

Hyalinosis Hyaline Membrane Disease Juvenile Hyaline Fibromatosis +2 more

WITHDRAWN

Nephrogenic Systemic Fibrosis (NSF): Analysis of Tissue Gadolinium Levels

NCT01014754

Nephrogenic Systemic Fibrosis Nephrogenic Fibrosing Dermopathy

COMPLETED

Study of Skin Tumors in Tuberous Sclerosis

NCT00001975

Tuberous Sclerosis

RECRUITING

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

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.

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

Neurofibromatosis 1

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Observational Model Type

CASE_CONTROL

Study Time Perspective

PROSPECTIVE

Study Groups

Review each arm or cohort in the study, along with the interventions and objectives associated with them.

Neurofibromatosis 1

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

Blood sample

Intervention Type OTHER

10 mL venous blood sample for analysis of plasma

Control

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

Blood sample

Intervention Type OTHER

10 mL venous blood sample for analysis of plasma

Interventions

Learn about the drugs, procedures, or behavioral strategies being tested and how they are applied within this trial.

Blood sample

10 mL venous blood sample for analysis of plasma

Intervention Type OTHER

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

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