Neurofibromatosis Type 1cNF Natural HxNCT05581511
Natural History Study of Cutaneous Neurofibromas in People With NF1
An observational study of Neurofibromatosis Type 1 and Neurofibromatosis 1, run by Johns Hopkins University at 1 site in United States.
Trial summary
People diagnosed with NF1 may develop cutaneous neurofibromas, also known as cNFs. These benign tumors can cause discomfort and affect a person's quality of life. Researchers at Johns Hopkins are studying how cNF tumors form, grow and change over time. Read more about this study
- Who is it for?
- Ages 1 year to 100 years
- Conditions the study is for
- Neurofibromatosis Type 1, Neurofibromatosis 1, Neurofibromatosis (Nonmalignant)
- What is being tested?
- Evaluation of the natural history of cutaneous neurofibromas
- How many people
- 500 participants
- Where
- 1 siteUnited States
- Study dates
- 28 Jun 2021to 30 Jun 2029
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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 1 year to 100 years
- All sexes
- Child, Adult, Older adult
Study population: People of all ages with NF1
Who may be able to join
- Diagnosis of NF1 based on NIH Consensus Conference clinical criteria or confirmed pathogenic NF1 mutation
- Patients ages 1-100 will be eligible to participate
- Ability have 3D whole-body pictures taken which entails standing still for a few seconds
- Ability to provide informed consent or obtain consent from parent or legally authorized representative in the case of patients under 18 years of age who cannot consent for themselves or those with disabilities preventing them from participating in the consent process.
- Participants must be able to travel to Johns Hopkins Hospital for whole-body imaging and physical exam.
Who cannot join
- Concurrent experimental or off label use of therapies for cNF
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Natural History Study of Cutaneous Neurofibromas in People With Neurofibromatosis Type 1
People diagnosed with NF1 may develop cutaneous neurofibromas, also known as cNFs. These benign tumors can cause discomfort and affect a person's quality of life. Researchers at Johns Hopkins are studying how cNF tumors form, grow and change over time. This information may help doctors in the future, provide early interventions and improve quality of life for NF1 patients. Researchers will also explore a new way of monitoring cNF with 3D camera technology. People of all ages with NF1, living in the United States, are invited to participate in this important research study.
Read the detailed description
The majority of people diagnosed with Neurofibromatosis Type 1 are likely to develop at least one cutaneous neurofibroma-also known as cNF. While benign, these tumors can cause pain, itchiness, disfigurement, and dramatically affect a person's quality of life; and little is known about how it forms and grows. A team of researchers at Johns Hopkins is studying the natural history of cNF to better understand how cNF tumors develop and change over time. This research may help doctors provide early intervention to people at risk of developing cNF, or prevent cNF altogether. And, it will help prioritize future research focused on improving the quality of life for people who have NF1
People of all ages diagnosed with NF1 are invited to participate in this research study. Participants under the age of 18 with parental consent are welcome. Participants will need to provide a saliva sample for genetic testing and NF1 gene identification. Once a year for the next five years, participants will undergo whole-body, 3D imaging. This imaging technology will generate a three-dimensional, digital image with which researchers will monitor changes in cNF over time. It does not use radiation and has no expected side effects.
Participants will need to answer annual health surveys to monitor quality of life, NF1 and cNF symptoms. Participants may also choose to donate blood and tissue samples for future NF research initiatives.
The study is open to anyone with NF1 living in the United States. Annual visits for this study will take place at the Johns Hopkins Outpatient Center in Baltimore, Maryland. There is no cost to the participants, and eligible travel and parking expenses may be reimbursed up to a specified amount. In fact, participants will receive a gift card at the first visit for participating in the study.
- Conditions
- Neurofibromatosis Type 1, Neurofibromatosis 1, Neurofibromatosis (Nonmalignant), Cutaneous Neurofibroma
- Being tested
- Evaluation of the natural history of cutaneous neurofibromas
- Keywords
- neurofibroma, cutaneous neurofibroma, neurofibromas, cutaneous neurofibromas, skin neurofibromas, dermal neurofibromas, neurofibromatosis, neurofibromatosis type 1, neurofibromatosis 1, von Recklinghausen syndrome, von Recklinghausen disease, NF1
- Medical subject headings
- Neurofibromatosis 1, Neurofibromatoses, Neurofibroma
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Evaluation of the natural history of cutaneous neurofibromasOther
Cutaneous neurofibromas (cNFs) are the most common tumors in people with neurofibromatosis type 1 (NF1). Despite their benign histology, they can significantly impact patients' quality of life (QoL). In this project, the natural history of cNFs will be prospectively and systematically studied. To accomplish this, the reproducibility and efficiency of using 3D whole-body photography was evaluated in a small cohort of patients. The study is enrolling patients of all ages with cNFs into groups by epochs of life to characterize the baseline tumor burden and the change in number and morphology of cNFs over five years. In addition, the study will perform next generation sequencing to describe the genetic variations in the NF1 gene and evaluate potential relations between genotype and phenotype. Lastly, the study will validate clinician- and patient-reported severity scales of cNFs developed for this patient population.
What is being measured
The primary outcome is the main question the study is designed to answer.
Tumor burden of cutaneous neurofibromas in people with neurofibromatosis type 1 (NF1).
To characterize the baseline tumor burden of cNFs
Measured: Baseline
Change in number of cNFs
Change in number of cNFs once per year over five years.
Measured: Once per year over 5 years
Secondary outcomes (1)
To characterize the genetic variations in the NF1 gene and evaluate potential relations between genotype and phenotype.
Using Next Generation Sequencing (NGS) to evaluate pathogenic variants in the NF1 gene and their relation to cNF tumor burden
Measured: 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted14 Oct 2022
- Study start28 Jun 2021
- Primary completion31 Dec 2028 (estimated)
- Study completion30 Jun 2029 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Neurofibromatosis Type 1Studies of the same condition, open and under way.
- More trials run by Johns Hopkins UniversityThe 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
- 500 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Johns Hopkins University
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Carlos G Romo, MD, Principal investigator, Johns Hopkins University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05581511
- Sponsor's protocol ID
- IRB00272137
- Acronym
- cNF Natural Hx
- Status last verified
- Oct 2026
- First submitted
- 12 Oct 2022
- Last updated
- 23 Oct 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 23 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Natural History Study of Cutaneous Neurofibromas in People With Neurofibromatosis Type 1
- ClinicalTrials.gov ID
- NCT05581511
- Acronym / sponsor ID
- cNF Natural Hx / IRB00272137
- Conditions
- Neurofibromatosis Type 1, Neurofibromatosis 1, Neurofibromatosis (Nonmalignant), Cutaneous Neurofibroma
- Keywords
- neurofibroma, cutaneous neurofibroma, neurofibromas, cutaneous neurofibromas, skin neurofibromas, dermal neurofibromas, neurofibromatosis, neurofibromatosis type 1
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 500 participants (estimated)
- Lead sponsor
- Johns Hopkins UniversityUniversity, hospital or other
- Study start
- 28 Jun 2021 (actual)
- Primary completion
- 31 Dec 2028 (estimated)
- Study completion
- 30 Jun 2029 (estimated)
- First posted
- 14 Oct 2022 (actual)
- 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.
People diagnosed with NF1 may develop cutaneous neurofibromas, also known as cNFs. These benign tumors can cause discomfort and affect a person's quality of life. Researchers at Johns Hopkins are studying how cNF tumors form, grow and change over time. This information may help doctors in the future, provide early interventions and improve quality of life for NF1 patients. Researchers will also explore a new way of monitoring cNF with 3D camera technology. People of all ages with NF1, living in the United States, are invited to participate in this important research study.
Detailed description
The majority of people diagnosed with Neurofibromatosis Type 1 are likely to develop at least one cutaneous neurofibroma-also known as cNF. While benign, these tumors can cause pain, itchiness, disfigurement, and dramatically affect a person's quality of life; and little is known about how it forms and grows. A team of researchers at Johns Hopkins is studying the natural history of cNF to better understand how cNF tumors develop and change over time. This research may help doctors provide early intervention to people at risk of developing cNF, or prevent cNF altogether. And, it will help prioritize future research focused on improving the quality of life for people who have NF1
People of all ages diagnosed with NF1 are invited to participate in this research study. Participants under the age of 18 with parental consent are welcome. Participants will need to provide a saliva sample for genetic testing and NF1 gene identification. Once a year for the next five years, participants will undergo whole-body, 3D imaging. This imaging technology will generate a three-dimensional, digital image with which researchers will monitor changes in cNF over time. It does not use radiation and has no expected side effects.
Participants will need to answer annual health surveys to monitor quality of life, NF1 and cNF symptoms. Participants may also choose to donate blood and tissue samples for future NF research initiatives.
The study is open to anyone with NF1 living in the United States. Annual visits for this study will take place at the Johns Hopkins Outpatient Center in Baltimore, Maryland. There is no cost to the participants, and eligible travel and parking expenses may be reimbursed up to a specified amount. In fact, participants will receive a gift card at the first visit for participating in the study.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 1 year to 100 years
- Sex
- All
- Age groups
- Child, Adult, Older adult
- Study population
- People of all ages with NF1
Key inclusion criteria (5 listed)
- Diagnosis of NF1 based on NIH Consensus Conference clinical criteria or confirmed pathogenic NF1 mutation
- Patients ages 1-100 will be eligible to participate
- Ability have 3D whole-body pictures taken which entails standing still for a few seconds
- Ability to provide informed consent or obtain consent from parent or legally authorized representative in the case of patients under 18 years of age who cannot consent for themselves or those with disabilities preventing them from participating in the consent process.
- Participants must be able to travel to Johns Hopkins Hospital for whole-body imaging and physical exam.
Key exclusion criteria (1 listed)
- Concurrent experimental or off label use of therapies for cNF
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Evaluation of the natural history of cutaneous neurofibromasCutaneous neurofibromas (cNFs) are the most common tumors in people with neurofibromatosis type 1 (NF1). Despite their benign histology, they can significantly impact patients' quality of life (QoL). In this project, the natural history of cNFs will be prospectively and systematically studied. To accomplish this, the reproducibility and efficiency of using 3D whole-body photography was evaluated in a small cohort of patients. The study is enrolling patients of all ages with cNFs into groups by epochs of life to characterize the baseline tumor burden and the change in number and morphology of cNFs over five years. In addition, the study will perform next generation sequencing to describe the genetic variations in the NF1 gene and evaluate potential relations between genotype and phenotype. Lastly, the study will validate clinician- and patient-reported severity scales of cNFs developed for this patient population. | Other | – |
Primary outcome
Tumor burden of cutaneous neurofibromas in people with neurofibromatosis type 1 (NF1).
Time frame: Baseline
To characterize the baseline tumor burden of cNFs
Change in number of cNFs
Time frame: Once per year over 5 years
Change in number of cNFs once per year over five years.
1 secondary outcome
To characterize the genetic variations in the NF1 gene and evaluate potential relations between genotype and phenotype.
Time frame: 2 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 23 Oct 2026.
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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.
Carlos G Romo, MD principal investigator
Johns Hopkins University
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 Neurofibromatosis 1, run by Johns Hopkins University 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 5 inclusion and 1 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: under way, not looking for participants, as of the sponsor's last update on 23 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?
This study is still under way. Results are not available in the source record yet.
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?
Tumor burden of cutaneous neurofibromas in people with neurofibromatosis type 1 (NF1). (time frame: Baseline). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 23 Oct 2026.