Neurofibromatosis 1NCT02680431
Analysis of Plasma for Diagnosis and Follow-up of Neurofibromatosis Type 1
An observational study of Neurofibromatosis 1, run by Juha Peltonen.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 to 85 yearsHealthy volunteers can take part
- Conditions the study is for
- Neurofibromatosis 1
- What is being tested?
- Blood sample
- How many people
- 100 participants
- Where
- No sites listed yet
- Study dates
- Jan 2016to Dec 2020
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 85 years
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: Patients visiting Turku Neurofibromatosis Centre (Finland) for care of their disease. Controls are healthy volunteers from Turku area.
Who may be able to join
- 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
Who cannot join
- Non-Finnish-speaking
- For control group: diagnosis of neurofibromatosis type 1 or cancer
About this study
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.
Read the 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.
- Conditions
- Neurofibromatosis 1
- Being tested
- Blood sample
- Medical subject headings
- Neurofibromatosis 1
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Blood sampleOther
10 mL venous blood sample for analysis of plasma
| Study group | Role | What they receive |
|---|---|---|
| Neurofibromatosis 1 | 10 mL venous blood sample taken from patients with type 1 neurofibromatosis Receives: Other: Blood sample | |
| Control | 10 mL venous blood sample taken from age- and gender-matched healthy controls Receives: Other: Blood sample |
What is being measured
The primary outcome is the main question the study is designed to answer.
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
Measured: 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
Measured: Up to 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted11 Feb 2016 (estimated)
- Study startJan 2016
- Primary completionDec 2020 (estimated)
- Study completionDec 2020 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Neurofibromatosis 1Studies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 100 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Juha Peltonen
- Sponsor type
- Other government
- Responsible party
- Sponsor-investigator, Juha Peltonen, Turku University Hospital
- Investigators
- Juha Peltonen, Professor, Principal investigator, University of Turku
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02680431
- Sponsor's protocol ID
- 141-1801-2015
- Status last verified
- Feb 2016
- First submitted
- 15 Jan 2016
- Last updated
- 11 Feb 2016
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- 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.
Study at a glance
From the registry record, last updated by the sponsor on 11 Feb 2016. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Analysis of Plasma for Diagnosis and Follow-up of Neurofibromatosis Type 1
- ClinicalTrials.gov ID
- NCT02680431
- Acronym / sponsor ID
- 141-1801-2015
- Conditions
- Neurofibromatosis 1
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- Juha PeltonenOther government
- Study start
- Jan 2016
- Primary completion
- Dec 2020 (estimated)
- Study completion
- Dec 2020 (estimated)
- First posted
- 11 Feb 2016 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Neurofibromatosis 1 | – | Other: Blood sample10 mL venous blood sample taken from patients with type 1 neurofibromatosis |
| Control | – | Other: Blood sample10 mL venous blood sample taken from age- and gender-matched healthy controls |
Who may qualify
- Ages
- 18 to 85 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- Patients visiting Turku Neurofibromatosis Centre (Finland) for care of their disease. Controls are healthy volunteers from Turku area.
Key inclusion criteria (4 listed)
- 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
Key exclusion criteria (2 listed)
- Non-Finnish-speaking
- For control group: diagnosis of neurofibromatosis type 1 or cancer
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Blood sample10 mL venous blood sample for analysis of plasma | Other | Control, Neurofibromatosis 1 |
Primary outcome
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
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
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 11 Feb 2016.
- Individual participant dataSharing planned: 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.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Juha Peltonen, Professor principal investigator
University of Turku
Questions about this trial
What is this clinical trial studying?
An observational study of Neurofibromatosis 1, run by Juha Peltonen.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 11 Feb 2016. Status can change between updates, so confirm with the study contact before making plans.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Ability of free circulating plasma DNA concentration and unspecific chemical detection method to predict overall tumor burden (time frame: Up to 5 years). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 11 Feb 2016.