Study of Disease Severity in Adults With Neurofibromatosis Type 1 (NF1)
Public ClinicalTrials.gov record NCT00111384. Field values are reproduced from the official study page; the official ClinicalTrials.gov record remains the source of truth for eligibility, enrollment, and contact information.
Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.
Official title
Variation in Gene Expression in Neurofibromatosis Type 1
Brief summary
Reproduced verbatim from the official ClinicalTrials.gov record. Not medical advice.
This study may identify genes that predict the seriousness of neurofibromatosis type 1 (NF1). Finding these genes may explain why some people with NF1 have more medical problems than others. The study will also examine medical problems in NF1 that are rarely seen and are not well understood. 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.
Study identification
- NCT ID
- NCT00111384
- Recruitment status
- Completed
- Study type
- Observational
- Phase
- Not listed
- Enrollment
- 313 participants
Conditions and interventions
Conditions
Interventions
Not listed
Eligibility (public fields only)
- Age range
- 2 Years to 100 Years
- Sex
- All
- Healthy volunteers
- Healthy volunteers not accepted
This page does not interpret eligibility. Detailed inclusion and exclusion criteria are on the official ClinicalTrials.gov record.
Study timeline
- Start date
- Jul 26, 2005
- Primary completion
- Not listed
- Completion
- Not listed
- Last update posted
- Aug 30, 2026
Started 2005
United States locations
- U.S. sites
- 1
- U.S. states
- 1
- U.S. cities
- 1
| Facility | City | State | ZIP | Site status |
|---|---|---|---|---|
| National Institutes of Health Clinical Center | Bethesda | Maryland | 20892 | — |
Site contact phone numbers, emails, and investigator names are intentionally not displayed here. Open the official ClinicalTrials.gov record for site contact information.
About this trial record page
- What this page shows
- Public field values for ClinicalTrials.gov record NCT00111384, including study identification, conditions, interventions, eligibility (age, sex, healthy volunteer), timeline, and U.S. site list.
- What this page does not do
- No medical advice, eligibility judgments, treatment recommendations, study quality scoring, or AI-generated medical summaries. No site contact phone numbers, emails, or investigator names.
- Where the data comes from
- Sourced from the official ClinicalTrials.gov public API. The official record is the source of truth.
- Last refresh
- Last update posted Aug 30, 2026 · Synced Sep 6, 2026
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Open the official record
The complete protocol, eligibility criteria, and contact information for NCT00111384 live on ClinicalTrials.gov.