Clinical trial · Observational
Analysis of Plasma for Diagnosis and Follow-up of Neurofibromatosis Type 1
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
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
Conditions (1)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Neurofibromatosis 1 | — | UNRESOLVED | — |
Interventions
Interventions (1)
| Intervention | Type | Mapped drug | Match |
|---|---|---|---|
| Blood sample | Other | — | UNRESOLVED |
Design
Arms and outcomes
Arms (2)
- label
- Neurofibromatosis 1
- description
- 10 mL venous blood sample taken from patients with type 1 neurofibromatosis
- interventionNames
- Other: Blood sample
- label
- Control
- description
- 10 mL venous blood sample taken from age- and gender-matched healthy controls
- interventionNames
- Other: Blood sample
Primary outcomes (2)
- measure
- Ability of free circulating plasma DNA concentration and unspecific chemical detection method to predict overall tumor burden
- timeFrame
- Up to 5 years
- description
- 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
Eligibility
Eligibility (as posted)
- Sex
- All
- Minimum age
- 18 Years
- Maximum age
- 85 Years
Show eligibility criteria text
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
References
Publications (0)
Data not yet available