Clinical trial · Observational
Natural History Study of Cutaneous Neurofibromas in People With NF1
Natural History Study of Cutaneous Neurofibromas in People With Neurofibromatosis Type 1
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
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.
Conditions
Conditions (4)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Cutaneous Neurofibroma | Skin Neurofibroma | ALIAS | 0.90 |
| Neurofibromatosis 1 | — | UNRESOLVED | — |
| Neurofibromatosis (Nonmalignant) | — | UNRESOLVED | — |
| Neurofibromatosis Type 1 | — | UNRESOLVED | — |
Interventions
Interventions (1)
| Intervention | Type | Mapped drug | Match |
|---|---|---|---|
| Evaluation of the natural history of cutaneous neurofibromas | Other | — | UNRESOLVED |
Design
Arms and outcomes
Arms (0)
[]Primary outcomes (2)
- measure
- Tumor burden of cutaneous neurofibromas in people with neurofibromatosis type 1 (NF1).
- timeFrame
- Baseline
- description
- To characterize the baseline tumor burden of cNFs
- measure
- Change in number of cNFs
- timeFrame
- Once per year over 5 years
- description
- Change in number of cNFs once per year over five years.
Secondary outcomes (1)
- measure
- To characterize the genetic variations in the NF1 gene and evaluate potential relations between genotype and phenotype.
- timeFrame
- 2 years
- description
- Using Next Generation Sequencing (NGS) to evaluate pathogenic variants in the NF1 gene and their relation to cNF tumor burden
Eligibility
Eligibility (as posted)
- Sex
- All
- Minimum age
- 1 Year
- Maximum age
- 100 Years
Show eligibility criteria text
Inclusion criteria: * 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. Exclusion criteria: * Concurrent experimental or off label use of therapies for cNF
References
Publications (0)
Data not yet available