Protocol Number: 05-HG-0152
Male and female patients with NF1 who have gone through puberty may be eligible for this study, as well as patients of any age who have unique or under-recognized disease features. Affected and unaffected family members, including parents, siblings, and more distant relatives, may also be enrolled. Candidates are screened with a discussion of medical history or review of medical records, or both. Participants undergo the following procedures: Patients with NF1 - Physical examination and family history - Photographs of the iris of each eye - Photographs of the back, abdomen and thigh to count skin tumors - Photographs of the face and body (with underwear on) to help track growth and appearance - Magnetic resonance imaging (MRI) of the spine (This test uses a magnetic field and radio waves to look for tumors and curvature of the spine. The patient lies still in the scanner, a narrow cylindrical device, wearing earplugs to muffle loud knocking sounds that occur during the scan. A contrast material called gadolinium is injected into a vein through a catheter to enhance the images.) - Blood draw for genetic studies - Possibly a skin biopsy (with the use of numbing medicine, removal of a small sample of skin tissue) to grow cells in the laboratory Patients with NF1 who have unique or under-recognized disease features -Physical examination and family history -Blood draw for genetic studies -Possibly a skin biopsy -Possibly additional tests, such as blood work, x-rays, photographs, MRIs, ultrasounds, or other tests Unaffected family members -Blood draw for genetic studies -Brief skin and eye examinations -Possibly a skin biopsy for cell culture Families are asked to give permission for researchers to recontact them for follow-up information, additional blood samples, or follow-up visit.
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National Institutes of Health Clinical Center
Bethesda, Maryland 20892. Last update: 09/17/2008
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