Neurofibromatosis Type 1NCT00314119
Natural History and Biology of Skin Neurofibromas in Neurofibromatosis Type 1
An observational study of Neurofibromatosis Type 1 and Neurofibroma, run by National Cancer Institute (NCI) at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 20 to 99 years
- Conditions the study is for
- Neurofibromatosis Type 1, Neurofibroma
- How many people
- 17 participants
- Where
- 1 siteUnited States
- Study dates
- 8 Jun 2006to not given
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 20 to 99 years
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Men and women between 20 and 50 years of age diagnosed with NF1 and their biological parents are eligible for this study.
Who may be able to join
- Biological parents (either affected or unaffected) of Group A individuals
- Willingness to donate a blood or saliva sample for genotyping
- Willing to undergo a brief skin and eye exam at the NIH CC (to rule out NF1) or University of Alabama, if accompanying adult children
Who cannot join
- MEDICAL INCLUSIONS:
- 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.
Show all 13Show fewer
- Inability or unwillingness to tolerate the dermal neurofibroma excision and skin biopsy or blood draw.
- VULNERABLE POPULATIONS EXCLUSIONS
- 1) Cognitive delay to the extent that conscious sedation is required to obtain the dermal neurofibroma excision and skin biopsy.
- OTHER EXCLUSIONS
- 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
- Individuals refusing an excisional tumor or skin biopsy.
Trial locations and contacts
1 site in 1 country.
United States1 site
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
About this study
Official title: Natural History and Biology of Dermal Neurofibromas in Neurofibromatosis Type 1
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.
Read more
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.
Read the detailed description
This protocol results from a funded 2005 Bench-to-Bedside Award and explores the genetic basis of disease severity in neurofibromatosis type 1 (NF1) and the evaluation of three methods to measure disease progression of dermal neurofibromas. NF1 is a common multisystem genetic disorder associated with the development of benign and malignant tumors, primarily of the nervous system. NF1 is 100% penetrant and features variable expressivity and limited phenotype/genotype correlation. No standard treatment other than surgery exists for most NF1-associated tumors. Many aspects of the natural history of NF1-associated tumors are not fully characterized and require investigation to assess the effects of potential new treatments, in future clinical trials. The development of medical treatments for NF1-associated tumors is an important goal given their morbidity and the lack of non-surgical treatment options. The ability to predict the ultimate severity of disease would have a significant impact on the management and treatment of individuals with NF1.
Sorafenib (BAY 43-9006) is a novel, orally bioavailable agent that targets downstream effectors in the Ras signaling pathway (a key dysregulated pathway in NF1). It has thus a strong scientific rationale for evaluation in NF1 related tumors. Dermal neurofibromas occur in nearly every individual with NF1, and are a significant cosmetic problem and a major cause of morbidity. This protocol will 1) quantify the growth of dermal neurofibromas in NF1 with 3 different imaging modalities 2) use an innovative gene expression method to identify genetic modifiers of dermal neurofibroma burden, and 3) evaluate dermal neurofibromas and normal skin for the presence of targets of sorafenib. Successful validation of reliable quantitative imaging methods of dermal neurofibroma growth is a logical prerequisite to subsequent clinical trials with medical treatments, which will evaluate the effect of new agents on the growth rate of dermal neurofibromas. Identification of genetic modifiers may permit prediction of ultimate tumor burden. Evaluation of targets of new agents in dermal neurofibromas will allow for more rationale drug development for NF1. Given the paucity of protocols for adults with NF1 and dermal neurofibromas, this study will likely generate great interest among affected individuals and have rapid accrual.
- Conditions
- Neurofibromatosis Type 1, Neurofibroma
- Keywords
- Tumor Imaging, NF1, Natural History, Neurofibromatosis
- Medical subject headings
- Neurofibromatosis 1, Neurofibroma, Neurofibromatoses
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 1 | Men and women between 20 and 50 years of age diagnosed with NF1 and their biological parents are eligible for this study. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Quantify the growth of dermal neurofibromas in NF1 with 3 different imaging modalities.
Evaluate the natural history of dermal neurofibromas in NF1 by monitoring the growth rate and development of new dermal neurofibromas using three different complementary imaging modalities over time in individuals with NF1. The study will be adequately powered so that a minimally meaningful statistical definition of progression can be developed for use in subsequent treatment protocols.
Measured: 12/31/2010
Use an innovative gene expression method to identify genetic modifiers of dermal neurofibroma burden.
Screen for genetic modifiers of dermal neurofibroma burden and growth using a novel approach employing the genetics of gene expression and family-based tests of association. Characterization of gene expression profiles in lymphoblastoid cell lines (LCLs) and dermal neurofibromas predictive of tumor behavior (e.g. growth rate) will also be explored.
Measured: 12/31/2010
Evaluate dermal neurofibromas and normal skin for the presence of targets of sorafenib.
Validate sorafenib as a rational agent for clinical development in individuals with NF1-related dermal neurofibromas. Quantify thelevel of expression of the targets of sorafenib by gene expression microarray of both normal skin and of the dermal neurofibromasthemselves. A tissue microarray from formalin-fixed neurofibromas may also be developed to investigate the expression of other therapeutic targets.
Measured: 12/31/2010
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted12 Apr 2006 (estimated)
- Study start8 Jun 2006
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Neurofibromatosis Type 1Studies of the same condition, open and under way.
- More trials run by National Cancer Institute (NCI)The sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 17 participants (actual)
Sponsor and investigators
- Lead sponsor
- National Cancer Institute (NCI)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Douglas R Stewart, M.D., Principal investigator, National Cancer Institute (NCI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00314119
- Sponsor's protocol ID
- 060134
- Other IDs
- 06-C-0134
- Status last verified
- 14 May 2026
- First submitted
- 11 Apr 2006
- Last updated
- 29 Oct 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: De-identified clinical data will be shared with collaborators under appropriate agreements.
Publications
Korf BR. Clinical features and pathobiology of neurofibromatosis 1. J Child Neurol. 2002 Aug;17(8):573-7; discussion 602-4, 646-51. doi: 10.1177/088307380201700806.
PubMed 12403555
Study at a glance
From the registry record, last updated by the sponsor on 29 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Natural History and Biology of Dermal Neurofibromas in Neurofibromatosis Type 1
- ClinicalTrials.gov ID
- NCT00314119
- Acronym / sponsor ID
- 060134
- Conditions
- Neurofibromatosis Type 1, Neurofibroma
- Keywords
- Tumor Imaging, NF1, Natural History, Neurofibromatosis
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 17 participants (actual)
- Lead sponsor
- National Cancer Institute (NCI)US National Institutes of Health
- Study start
- 8 Jun 2006 (actual)
- First posted
- 12 Apr 2006 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
This protocol results from a funded 2005 Bench-to-Bedside Award and explores the genetic basis of disease severity in neurofibromatosis type 1 (NF1) and the evaluation of three methods to measure disease progression of dermal neurofibromas. NF1 is a common multisystem genetic disorder associated with the development of benign and malignant tumors, primarily of the nervous system. NF1 is 100% penetrant and features variable expressivity and limited phenotype/genotype correlation. No standard treatment other than surgery exists for most NF1-associated tumors. Many aspects of the natural history of NF1-associated tumors are not fully characterized and require investigation to assess the effects of potential new treatments, in future clinical trials. The development of medical treatments for NF1-associated tumors is an important goal given their morbidity and the lack of non-surgical treatment options. The ability to predict the ultimate severity of disease would have a significant impact on the management and treatment of individuals with NF1.
Sorafenib (BAY 43-9006) is a novel, orally bioavailable agent that targets downstream effectors in the Ras signaling pathway (a key dysregulated pathway in NF1). It has thus a strong scientific rationale for evaluation in NF1 related tumors. Dermal neurofibromas occur in nearly every individual with NF1, and are a significant cosmetic problem and a major cause of morbidity. This protocol will 1) quantify the growth of dermal neurofibromas in NF1 with 3 different imaging modalities 2) use an innovative gene expression method to identify genetic modifiers of dermal neurofibroma burden, and 3) evaluate dermal neurofibromas and normal skin for the presence of targets of sorafenib. Successful validation of reliable quantitative imaging methods of dermal neurofibroma growth is a logical prerequisite to subsequent clinical trials with medical treatments, which will evaluate the effect of new agents on the growth rate of dermal neurofibromas. Identification of genetic modifiers may permit prediction of ultimate tumor burden. Evaluation of targets of new agents in dermal neurofibromas will allow for more rationale drug development for NF1. Given the paucity of protocols for adults with NF1 and dermal neurofibromas, this study will likely generate great interest among affected individuals and have rapid accrual.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| 1 | – | –Men and women between 20 and 50 years of age diagnosed with NF1 and their biological parents are eligible for this study. |
Who may qualify
- Ages
- 20 to 99 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Men and women between 20 and 50 years of age diagnosed with NF1 and their biological parents are eligible for this study.
Key inclusion criteria (3 listed)
- Biological parents (either affected or unaffected) of Group A individuals
- Willingness to donate a blood or saliva sample for genotyping
- Willing to undergo a brief skin and eye exam at the NIH CC (to rule out NF1) or University of Alabama, if accompanying adult children
Key exclusion criteria (13 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Quantify the growth of dermal neurofibromas in NF1 with 3 different imaging modalities.
Time frame: 12/31/2010
Evaluate the natural history of dermal neurofibromas in NF1 by monitoring the growth rate and development of new dermal neurofibromas using three different complementary imaging modalities over time in individuals with NF1. The study will be adequately powered so that a minimally meaningful statistical definition of progression can be developed for use in subsequent treatment protocols.
Use an innovative gene expression method to identify genetic modifiers of dermal neurofibroma burden.
Time frame: 12/31/2010
Screen for genetic modifiers of dermal neurofibroma burden and growth using a novel approach employing the genetics of gene expression and family-based tests of association. Characterization of gene expression profiles in lymphoblastoid cell lines (LCLs) and dermal neurofibromas predictive of tumor behavior (e.g. growth rate) will also be explored.
Evaluate dermal neurofibromas and normal skin for the presence of targets of sorafenib.
Time frame: 12/31/2010
Validate sorafenib as a rational agent for clinical development in individuals with NF1-related dermal neurofibromas. Quantify thelevel of expression of the targets of sorafenib by gene expression microarray of both normal skin and of the dermal neurofibromasthemselves. A tissue microarray from formalin-fixed neurofibromas may also be developed to investigate the expression of other therapeutic targets.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 29 Oct 2026.
- Background: PubMed 12403555Korf BR. Clinical features and pathobiology of neurofibromatosis 1. J Child Neurol. 2002 Aug;17(8):573-7; discussion 602-4, 646-51. doi: 10.1177/088307380201700806.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
- Individual participant dataSharing planned: Yes. De-identified clinical data will be shared with collaborators under appropriate agreements.
Related trials for Neurofibromatosis Type 1
Active, not recruitingPhase 1/2
Selumetinib in Treating Young Patients With Recurrent or Refractory Low Grade Glioma
Low Grade Glioma, Recurrent Childhood Pilocytic Astrocytoma
RecruitingPhase 3
A Study of the Drugs Selumetinib vs. Carboplatin and Vincristine in Patients With Low-Grade Glioma
Low Grade Astrocytoma, Low Grade Glioma
RecruitingPhase 1
Phase I Trial of TURALIO(R) (Pexidartinib, PLX3397) in Children and Young Adults With Refractory Leukemias and Refractory Solid Tumors Including Neurofibromatosis Type 1 (NF1) Associated Plexiform Neurofibromas (PN) and Tenosynovial Giant Cell Tumor ...
Neurofibroma, Plexiform, Precursor Cell Lymphoblastic Leukemia-Lymphoma
Active, not recruitingPhase 2
Trametinib in Treating Patients With Relapsed or Refractory Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia, Neurofibromatosis Type 1
RecruitingObservational study
Surveillance for Malignant Transformation of Neurofibromatosis Type 1 (NF1) Related Peripheral Nerve Sheath Tumors (PNST)
Neurofibromatosis 1, Nerve Sheath Neoplasms
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Douglas R Stewart, M.D. principal investigator
National Cancer Institute (NCI)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Neurofibromatosis Type 1 and Neurofibroma, run by National Cancer Institute (NCI) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 13 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 29 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Quantify the growth of dermal neurofibromas in NF1 with 3 different imaging modalities. (time frame: 12/31/2010). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00314119, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 29 Oct 2026.