Study of Plexiform Neurofibromas in Neurofibromatosis Type 1

Sponsor

National Cancer Institute (NCI) (NIH)

Overall Status

Completed

CT.gov ID

NCT00006435

Collaborator

(none)

Enrollment

Location

227.4

Actual Duration (Months)

0.1

Patients Per Site Per Month

Study Details

Study Description

Brief Summary

Background:

-Plexiform neurofibromas in patients with NF1 are a significant cause of morbidity but little is known about the natural history of these lesions.

Objectives:

The purpose of this study is to monitor the natural history of plexiform neurofibromas and to evaluate the usefulness of volumetric MRI tumor measurements in this disease.
Other goals of the study are to provide a body of normative data on the growth rate of plexiform neurofibromas and to establish a tissue repository and pathology review center to allow future studies of the pathogenesis of neurofibromas and clinical trials of potential therapeutic agents.

Design

This study is coordinated by Dr. Bruce Korf, and was initiated when he was at the Partners Center for Human Genetics, Boston, MA.

Condition or Disease	Intervention/Treatment	Phase
Plexiform Neurofibromas NF1

Detailed Description

Background:

-Plexiform neurofibromas in patients with NF1 are a significant cause of morbidity but little is known about the natural history of these lesions.

Objectives:

The purpose of this study is to monitor the natural history of plexiform neurofibromas and to evaluate the usefulness of volumetric MRI tumor measurements in this disease.
Other goals of the study are to provide a body of normative data on the growth rate of plexiform neurofibromas and to establish a tissue repository and pathology review center to allow future studies of the pathogenesis of neurofibromas and clinical trials of potential therapeutic agents.

Design

This study is coordinated by Dr. Bruce Korf, and was initiated when he was at the Partners Center for Human Genetics, Boston, MA.

Study Design

Study Type:

Observational

Actual Enrollment :

24 participants

Observational Model:

Cohort

Time Perspective:

Prospective

Official Title:

Natural History of Plexiform in Neurofibromatosis Type I

Actual Study Start Date :

May 18, 2001

Actual Primary Completion Date :

Sep 7, 2007

Actual Study Completion Date :

May 1, 2020

Outcome Measures

Primary Outcome Measures

Monitor natural history of plexiform neurofibromas [3 years]
Monitor natural history of plexiform neurofibromas
Usefulness of volumetric MRI measurements [4 years]
Usefulness of volumetric MRI measurements

Secondary Outcome Measures

Establish tissue repository & pathology reviews center [3 years]
Body of data regarding growth rate of plexiform neurofibromas [3 years]

Eligibility Criteria

Criteria

Ages Eligible for Study:

N/A to 100 Years

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

INCLUSION
Diagnosis of Neurofibromatosis: All study subjects will fulfill two or more of the diagnostic criteria listed below for NF1.
Six or more caf(SqrRoot)(Copyright)-au-lait macules
1.5cm or larger in postpubertal individuals
0.5 cm or larger in prepubertal individuals
Two or more neurofibromas of any type or 1 or more plexiform neurofibroma
Freckling in the axilla or groin
Optic glioma (tumor of the optic pathway)
Two or more Lisch nodules (benign iris hamartomas)
A distinctive bony lesion
Dysplasia of the sphenoid bone
Dysplasia or thinning of long bone cortex
A first degree relative with NF-1
Plexiform Neurofibroma: A plexiform neurofibroma fulfilling entry criteria for the study will be defined as a diffuse soft tissue or nerve enlargement in a patient with NF1 that is causing, or has potential to cause, disfigurement or functional disability.
Distribution of Plexiform Neurofibromas by site: A total of 300 plexiform neurofibromas will be studied, consisting of 100 tumors in the following three groups (based on region of maximal involvement):
Head and Neck
Trunk and Limbs (externally visible)
Trunk and Limbs (internal) [spinal plexiform neurofibromas involve two or more levels with connection between the levels or extending laterally along the nerve]
Subject Ascertainment: Study subjects will be ascertained at any of the participating clinical centers. It is expected that these will include subjects already followed in these clinics, as well as newly diagnosed patients

EXCLUSION

Presence of metallic implant(s) that will make the patient unable to have MRI studies
Presence of medical or psychological condition that will make the patient unable to tolerate MRI studies or anesthesia (if needed)
Inability to image tumor or define tumor margins by MRI (which may be determined after the initial study)
Failure to obtain initial MRI within 60 days of enrollment
Previous radiation therapy to site of plexiform neurofibroma
Surgery involving the plexiform neurofibroma (excluding biopsy) within a six month period before enrollment
Current antineoplastic therapy
Entry of more than one member of the same family into the study is not permitted