Study of Plexiform Neurofibromas in Neurofibromatosis Type 1

This study has been completed.
Sponsor:
Information provided by:
National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov Identifier:
NCT00006435
First received: November 3, 2000
Last updated: March 14, 2014
Last verified: August 2013
  Purpose

The purpose of this study is to document the rate of growth of plexiform neurofibromas over a 3-year period. Plexiform neurofibromas are a type of benign tumor seen in patients with neurofibromatosis type 1. The growth of these tumors is unpredictable and the factors that influence their growth are largely unknown.

Children and adults with plexiform neurofibromas may be eligible for this study. At the first clinic visit a blood sample of about 5 to 10 milliliters (1 to 2 teaspoons) will be drawn. DNA from the sample will be stored for possible future study of changes in the NF1 gene or other genes that may affect the behavior of neurofibromas. The serum may be used to test for substances in the blood that cause neurofibromas to grow.

Every 6 months patients will have a standard physical examination. In addition, if the plexiform neurofibroma is visible on the skin surface, it will be measured with a tape measure or ruler and photographed. Photographs will include only the part of the body affected by the neurofibroma, and they will be kept in a confidential file without any patient identifier.

Patients will have magnetic resonance imaging (MRI) scanning of the plexiform neurofibroma three times during the study at enrollment, at 1 year and at 3 years. Scans will be done more often if the plexiform neurofibroma appears to be growing rapidly or if other problems are noted.

Surgery will not be done as part of this study. If, however, surgery is performed as part of standard medical care and tumor tissue is available that is not needed for clinical purposes, a sample will be stored for possible distribution to investigators conducting research on neurofibromatosis.

Patients who do not wish to contribute a blood and/or tumor sample, may still participate in the study.


Condition
Neurofibroma, Plexiform
Neurofibromatosis Type I

Study Type: Observational
Official Title: Natural History of Plexiform in Neurofibromatosis Type I

Resource links provided by NLM:


Further study details as provided by National Institutes of Health Clinical Center (CC):

Enrollment: 24
Study Start Date: October 2000
Detailed Description:

This is a four-year study, the overall objective of which is to set up a system that will facilitate clinical trials of potential therapies for plexiform neurofibromas in NF1. These tumors are unpredictable in terms of rate of growth and are difficult to measure. We will set up a network of clinical centers and will follow the growth of plexiform neurofibromas using volumetric MRIs. These centers will be supported by a tissue bank, in which tissue samples will be made available to investigators throughout the world. In addition there will be a database used to track clinical information about patients with NF1 and a standard pathology review for any biopsy material. The first stage of this project will involve setting up the infrastructure. Subject recruitment will begin in April 1999. The study will then continue over a three-year period, during which patients will be present for clinical assessments and MRIs. The protocol includes an algorithm for determination of the time for repeat MRIs; clinical assessments will occur at 6 monthly intervals. The last six months of the study will be devoted to data analysis.

  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Criteria
  • INCLUSION CRITERIA:

Subjects must fulfill two or more of the following diagnostic criteria for NF1:

Six or more cafe-au-lait macules (1. 1.5 cm or larger in postpubertal individuals; 2. 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 (1. Dysplasia of the sphenoid bone; 2. Dysplasia or thinning of long bone cortex);

A first degree relative with NF-1.

EXCLUSION CRITERIA:

Presence of metallic implant that will make the patient unable to have MRI studies.

Presence of a 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.

  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00006435

Locations
United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892
United States, Massachusetts
Partners Center for Human Genetics
Boston, Massachusetts, United States, 02115
Massachusetts General Hospital
Boston, Massachusetts, United States, 02114
Sponsors and Collaborators
Investigators
Principal Investigator: Brigitte C Widemann, M.D. National Cancer Institute (NCI)
  More Information

Additional Information:
No publications provided

ClinicalTrials.gov Identifier: NCT00006435     History of Changes
Obsolete Identifiers: NCT00445991
Other Study ID Numbers: 010027, 01-C-0027
Study First Received: November 3, 2000
Last Updated: March 14, 2014
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
MRI Volumetric Analysis
Central Tissue Bank
Tumor Progression

Additional relevant MeSH terms:
Neurofibroma
Neurofibromatoses
Neurofibromatosis 1
Osteitis Fibrosa Cystica
Neurofibroma, Plexiform
Nerve Sheath Neoplasms
Neoplasms, Nerve Tissue
Neoplasms by Histologic Type
Neoplasms
Peripheral Nervous System Neoplasms
Nervous System Neoplasms
Nervous System Diseases
Peripheral Nervous System Diseases
Neuromuscular Diseases
Neoplastic Syndromes, Hereditary
Neurocutaneous Syndromes
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Genetic Diseases, Inborn
Bone Diseases, Endocrine
Bone Diseases
Musculoskeletal Diseases

ClinicalTrials.gov processed this record on July 22, 2014