Natural History and Biology of Skin Neurofibromas in Neurofibromatosis Type 1 (NCT00314119) | Clinical Trial Compass
CompletedNot Applicable
Natural History and Biology of Skin Neurofibromas in Neurofibromatosis Type 1
United States17 participantsStarted 2006-06-08
Plain-language summary
This study will explore the growth of dermal neurofibromas (skin tumors) in patients with neurofibromatosis type 1 (NF1). Investigators will try to learn: 1) how fast (or slow) these benign tumors grow in NF1, 2) how often new tumors appear and 3) what genes are involved in the growth of the tumors.
Men and women between 20 and 50 years of age diagnosed with NF1 and their biological parents are eligible for this study.
Patients with NF1 are evaluated at the NIH Clinical Center with the following tests and procedures:
* Medical examination and drawing of family tree.
* Photos of the back, abdomen and thigh in order to count the number of skin tumors.
* Photos of the skin taken with a special camera (Primos camera) that takes very detailed pictures of a small area of skin.
* Photos of the skin taken with a dermatoscope, which takes very detailed pictures of a small area of skin under high magnification.
* Biopsy of at least one skin tumor and biopsy of a small piece of normal skin.
* Blood sample collection for genetic testing of the gene NF1 and to establish a cell line.
* Other medical tests (e.g., x-rays or MRI) if needed.
Patients and their families will also have a genetic counseling session and an opportunity to ask questions about neurofibromatosis type 1.
Patients return to the NIH after 3, 6, 12, 18 and 24 months for follow-up photographs and possibly blood samples.
Biological parents of patients provide a blood sample for genetic testing.
Who can participate
Age range20 Years – 99 Years
SexALL
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Inclusion criteria
✓. Clinical diagnosis of NF1. In order to meet the diagnosis of NF1 individuals must have 2 of the diagnostic criteria listed below:
✓. Age at study entry: 20- 50 years (inclusive)
✓. Identification of a physician who will be responsible for follow-up care, if needed
✓. Ability and willingness to travel to the NIH Clinical Center or University of Alabama at Birmingham Alabama for multiple evaluations
✓. Ability and willingness of both biologic parents to provide a blood (or saliva) sample
✓. Must have at least one dermal neurofibroma amenable to excisional biopsy. Preferably the neurofibroma will be on the thorax or abdomen and be at least the size of a pencil eraser.
✓. Biological parents (either affected or unaffected) of Group A individuals
✓. Willingness to donate a blood or saliva sample for genotyping
Exclusion criteria
✕
What they're measuring
1
Quantify the growth of dermal neurofibromas in NF1 with 3 different imaging modalities.
Timeframe: 12/31/2010
2
Use an innovative gene expression method to identify genetic modifiers of dermal neurofibroma burden.
Timeframe: 12/31/2010
3
Evaluate dermal neurofibromas and normal skin for the presence of targets of sorafenib.
. Any history of administration (or current use) of radiation therapy, chemotherapeutic agents or biologic agents (experimental or not) that resulted in a documented significant change in dermal neurofibroma tumor burden or growth.
✕. Patients with probable segmental or mosaic NF1 will be excluded from study participation and medical records may be reviewed prior to enrollment for this determination.
✕. A history of administration of medications within 6 months of study entry that might reasonably be expected to alter the natural history of tumor growth (examples include pirfenidone, interferon, farnesyl transferase inhibitor (FTI), MTX/VBL, thalidomide, growth hormone) or cause significant changes in gene expression profile.
✕. Known or suspected untreated bleeding diathesis or platelet disorder that would preclude safe and successful dermal neurofibroma and skin biopsy. Patients prescribed aspirin or other known/suspected agent that interferes with platelet function may also be excluded if they cannot safely discontinue its use a week ahead of the biopsy.
✕. Clinically significant unrelated systemic illness, such as serious infection, hepatic, renal or other organ dysfunction, which in the judgment of the principal investigator or associate investigator would compromise the patient's ability to participate in the study procedures.
✕. Inability or unwillingness to tolerate the dermal neurofibroma excision and skin biopsy or blood draw.
✕. Biologic parents unable or unwilling to provide a blood (or saliva) sample.
✕. Inability to travel to the NIH or to The University of Alabama at Birmingham, AL