Clinical trial NCT05581511: Natural History Study of Cutaneous Neurofibromas in People With NF1
Official title: Natural History Study of Cutaneous Neurofibromas in People With Neurofibromatosis Type 1
Study type: OBSERVATIONAL
Overall status: ACTIVE_NOT_RECRUITING
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
neurofibromatosis 1
von Recklinghausen syndrome
von Recklinghausen disease
NF1
Lead sponsor: Johns Hopkins University
Sponsor class: OTHER
Collaborators: name: Neurofibromatosis Therapeutic Acceleration Program
First posted: 2022-10-14
Enrollment: 500
Sex: ALL
Minimum age (years): 1
Maximum age (years): 100
Standard ages: CHILD
ADULT
OLDER_ADULT
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: People of all ages with NF1

Brief 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.

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.

Eligibility criteria: 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

Primary outcomes:
measure: Tumor burden of cutaneous neurofibromas in people with neurofibromatosis type 1 (NF1).
timeFrame: Baseline
measure: Change in number of cNFs
timeFrame: Once per year over 5 years
Secondary outcomes:
measure: To characterize the genetic variations in the NF1 gene and evaluate potential relations between genotype and phenotype.
timeFrame: 2 years
Other outcomes:
Locations:
city: Baltimore
country: United States
facility: Johns Hopkins University
state: Maryland
Study officials:
affiliation: Johns Hopkins University
name: Carlos G Romo, MD
role: PRINCIPAL_INVESTIGATOR
References: