Clinical trial NCT00006435: Study of Plexiform Neurofibromas in Neurofibromatosis Type 1
Official title: Natural History of Plexiform in Neurofibromatosis Type I
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Plexiform Neurofibromas
NF1
Keywords: Tissue Repository
Growth Rate
Volumetric MRI
Lead sponsor: National Institutes of Health Clinical Center (CC)
Sponsor class: NIH
First posted: 2000-11-06
Enrollment: 24
Sex: ALL
Maximum age (years): 100
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: A total of 300 plexiform neurofibromas will be studied, consisting of 100 tumors in the head/neck and trunk/limbs (externally visible and internal)

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.

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.

Eligibility criteria: * 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

Primary outcomes:
measure: Monitor natural history of plexiform neurofibromas
timeFrame: 3 years
measure: Usefulness of volumetric MRI measurements
timeFrame: 4 years
Secondary outcomes:
measure: Establish tissue repository &amp; pathology reviews center
timeFrame: 3 years
measure: Body of data regarding growth rate of plexiform neurofibromas
timeFrame: 3 years
Other outcomes:
Locations:
city: Bethesda
country: United States
facility: National Institutes of Health Clinical Center, 9000 Rockville Pike
state: Maryland
Study officials:
affiliation: National Cancer Institute (NCI)
name: Brigitte C Widemann, M.D.
role: PRINCIPAL_INVESTIGATOR
References: