Analysis of Plasma for Diagnosis and Follow-up of Neurofi... | NCT02680431

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

NCT02680431

Sponsor

Juha Peltonen

Status

Unknown status

Last Update Posted

Feb 11, 2016Estimated

Enrollment

100Estimated

Phase

Not provided

Conditions

Neurofibromatosis 1

Interventions

Blood sample

Countries

Not provided

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Feb 2016

Overall Recruitment Status or Expanded Access Status

Unknown status

Last Known Status

Enrolling by invitation

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Jan 2016

Primary Completion Date

Dec 2020Estimated

Completion Date

Dec 2020Estimated

First Submitted Date

Jan 15, 2016

First Submission Date that Met QC Criteria

Feb 8, 2016

First Posted Date

Feb 11, 2016Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Feb 8, 2016

Last Update Posted Date

Feb 11, 2016Estimated

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Not provided

Is FDA Regulated Device

Not provided

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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.

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.

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

100Estimated

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
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

Name	Type	Description	Arm Group Labels	Other Names
Blood sample	Other	10 mL venous blood sample for analysis of plasma	Control Neurofibromatosis 1

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
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

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

Eligibility 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

Accepts Healthy Volunteers

Yes

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

18 Years

Maximum Age

85 Years

Standard Ages

AdultOlder Adult

Study Population

Patients visiting Turku Neurofibromatosis Centre (Finland) for care of their disease. Controls are healthy volunteers from Turku area.

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
Juha Peltonen, Professor	University of Turku	Principal Investigator

Locations

Not provided

IPD Sharing Statement Module

Plan to Share IPD

Undecided

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.

Types

Not provided

Time Frame

Not provided

Access Criteria

Not provided

URL

Not provided

Condition Browse Module

MeSH Terms

ID	Term
D009456	Neurofibromatosis 1

Ancestor Terms

ID	Term
D017253	Neurofibromatoses
D009455	Neurofibroma
D018317	Nerve Sheath Neoplasms
D009380	Neoplasms, Nerve Tissue

Browse Leaves

Not provided

Browse Branches

Not provided

Intervention Browse Module

MeSH Terms

ID	Term
D001800	Blood Specimen Collection

Ancestor Terms

ID	Term
D013048	Specimen Handling
D019411	Clinical Laboratory Techniques
D019937	Diagnostic Techniques and Procedures
D003933	Diagnosis

Browse Leaves

Not provided

Browse Branches

Not provided