NCT00924196Active, not recruiting
Natural History Study of Patients With Neurofibromatosis Type I
Natural History Study and Longitudinal Assessment of Children, Adolescents, and Adults With Neurofibromatosis Type 1
Source: ClinicalTrials.gov · Last updated 16 Oct 2026
Brief summary (registry, in English)
Background: Neurofibromatosis Type 1 (NF1) is a genetic disorder in which patients are at increased risk of developing tumors (usually non-cancerous) of the central and peripheral nervous system. The disease affects essentially every organ system. The natural course of NFI over time is poorly understood. For most patients the only treatment option is surgery. A better understanding of NF1 may be helpful for the design of future treatment studies. Objectives: To evaluate people with NF1 over 10 years in order to better understand the natural history of the disease. To characterize the patient population and to examine how NFI affects patients quality of life and function. Eligibility: Children, adolescents, and adults with NF1. Design: Participants have a comprehensive baseline evaluation including genetic testing, tumor imaging, pain and quality-of-life assessments, and neuropsychological, motor and endocrine evaluations. Patients are monitored every 6 months to every 3 years, depending on their individual findings at the baseline study. Tests may include the following, as appropriate: * Medical history, physical examination and blood tests. * Whole body and face photography to monitor visible deformities. * Neuropsychological testing, quality-of-life evaluations, motor function tests, endocrinologic evaluations, heart and lung function tests, hearing tests, bone density scans and other bone evaluations. * MRI and PET scans to detect and assess plexiform neurofibromas (tumors that arise from nerves and can cause serious problems), paraspinal neurofibromas (tumors that arise from nerves around the spine and can cause problems by compressing the spinal cord), and malignant peripheral nerve sheath tumors (a type of cancer that arises from a peripheral nerve or involves the sheath covering the nerve). * Eye exams, MRI scans and PET scans to evaluate optic pathway gliomas (tumors arising from the vision nerves or the brain areas for vision) and the chemicals within the tumor and brain. * Eye exams and photographs to evaluate the development of Lisch nodules (non-cancerous tumors on the eye). * Photographs of dermal neurofibromas (tumors of the skin), cafe-au-lait spots (dark or pigmented areas on the skin that are often the first signs of NF1) and other skin problems. * Pain evaluations to monitor the different types of pain patients experience, causes of the pain, how often the pain occurs, effect of the pain on quality of life, and what pain medications and alternative treatments, such as acupuncture, are effective.
- Status (registry)
- Active, not recruiting
- Study type
- Observational
- Enrollment
- 259 (actual)
- First submitted
- 17 Jun 2009
- Start date
- 25 Feb 2008
- Lead sponsor
- National Cancer Institute (NCI)
- Diseases
- Childhood cancers, Sarcoma
- NCT number
- NCT00924196
What you commit to
- Study type: Observational
- Participants enrolled: 259
- 1 site in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Other
- In the opinion of the investigator the patient is not able to return for follow-up visits or obtain required follow-up studies.
- In the opinion of the investigator the patient is not able to obtain an MRI scan.
- Individuals who are pregnant or breast feeding or who become pregnant while enrolled on this trial will not be excluded from participation but will not undergo radiographic evaluations or MRI scans requested for research purposes, or other studies which might negatively impact on the pregnancy.
Who the study is looking for
- Age:
- \<= 35 years of age for all new patients (except NF1-GIST) evaluated at NIH
- No upper age limit for patients previously enrolled on clinical trials at NIH or for patients diagnosed with MPNST, or with clinical concern for MPNST, or with infrequent or unusual NF1 related manifestations. No upper age limit for patients with NF1-GIST.
- Diagnosis: Patients who are diagnosed with NF1 using the NIH Consensus Conference criteria or have a confirmed NF1 mutation with analysis performed in a CLIA-certified laboratory. NF1 mutation testing to confirm eligibility will not be performed on this protocol, but as part of a separate screening study. Histologic confirmation of NF1 related benign tumors is not necessary in the presence of consistent clinical and radiographic findings but is required for individuals with MPNST who enroll on this study.
- For the clinical diagnosis of NF1 all study subjects must have at two or more diagnostic criteria for NF1 listed below (NIH Consensus Conference):
- Six or more cafe-au-lait spots (\>=0.5 cm in prepubertal subjects or \>=1.5 cm in postpubertal subjects)
- \>= 2 neurofibromas or 1 plexiform neurofibroma
- Freckling in the axilla or groin
- Optic glioma
- Two or more Lisch nodules
- A distinctive bony lesion (dysplasia of the sphenoid bone or dysplasia or thinning of long bone cortex)
- A first-degree relative with NF1
- Prior and current therapy: For NF1 related benign tumor manifestations there is no standard effective medical treatment, and surgery is the only standard treatment. Chemotherapy and radiation therapy are additional treatment options for malignant NF1 related tumors. For the purpose of this study, subjects who have not previously received medical or surgical treatment, patients who have previously received medical or surgical treatment, and subjects who are currently receiving medical treatment and or radiation for a NF1 related manifestation will be eligible. Prior and current treatment for NF1 related manifestations will be recorded at trial entry and throughout the study.
- Performance Status: ECOG \<= 3. Subjects who are wheelchair bound because of paralysis will be considered ambulatory when they are up in their wheelchair. Subjects have to be able to travel to the NIH for evaluations.
- Informed Consent: All patients or their legal guardians (if the patients is\<18 years old) must sign an IRB-approved document of informed consent to demonstrate their understanding of the investigational nature and the risks of this study before any protocolrelated studies are performed. When appropriate, pediatric subjects will be included in all discussions.
Criteria the registry did not label
- ELIGIBILITY CRITERIA PATIENT
Age in the registry: 4 weeks to - · Sex: All · Does not accept healthy volunteers
Sites (1)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| National Institutes of Health Clinical Center Coordinator of this site? Confirm its status | Bethesda | United States | Unknown status |
This page is information, not medical advice. Discuss any trial with your doctor.