Active — Not RecruitingNot Applicable

Natural History Study of Cutaneous Neurofibromas in People With NF1

United States500 participantsStarted 2021-06-28

Plain-language 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. 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.

Who can participate

Age range1 Year – 100 Years

SexALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

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

What they're measuring

Tumor burden of cutaneous neurofibromas in people with neurofibromatosis type 1 (NF1).

Timeframe: Baseline

Change in number of cNFs

Timeframe: Once per year over 5 years

Trial details

NCT IDNCT05581511

SponsorJohns Hopkins University

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2028-12-31