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Neurofibromatosis 1

Neurofibroma

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Neurofibromatosis

Neurofibromatosis Type 1

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.

Evaluation of the natural history of cutaneous neurofibromas

Carlos G Romo, MD

Amanda Johnson

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.

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.

Optional donations of blood and cutaneous neurofibroma are accepted

Natural History Study of Cutaneous Neurofibromas in People With NF1

Natural History Study of Cutaneous Neurofibromas in People With Neurofibromatosis Type 1

To characterize the baseline tumor burden of cNFs

Change in number of cNFs once per year over five years.

Using Next Generation Sequencing (NGS) to evaluate pathogenic variants in the NF1 gene and their relation to cNF tumor burden

Neurofibromatosis Therapeutic Acceleration Program

Johns Hopkins University

Skin Neoplasms

Neurofibroma, Plexiform

The procedure to sample the cutaneous neurofibroma involves a skin incision and will take approximately 10 to 15 minutes. The tissue will be taken in the following way:

* The skin area will be cleaned
* The skin area will be numbed (by either a numbing cream or a tiny numbing shot)
* Cutaneous (skin) Neurofibroma: will be taken via a small incision and removal of the neurofibroma whenever possible.
* A small piece of normal (skin) tissue will be numbed as above and taken using a special skin biopsy device.

Afterward, the area will be cleaned and the skin put back together with medical super glue or 1 to 2 dissolvable stitches that will dissolve as the incision heals, they do not require removal. The purpose of taking this piece of skin is to compare normal skin with the skin of a cutaneous neurofibroma.

Skin Biopsy

Matthew Steensma, MD

Esther Peariso, MSN, RN

Nathan Shurlow

Matthew R Steensma, MD

The purpose of the research study is intended to use specimens (such as tissue) and medical information in the Laboratory of Musculoskeletal Oncology at the Van Andel Research Institute for laboratory research in Grand Rapids, Michigan. Small tissue samples of cutaneous neurofibromas will be collected as part of this research. The samples will help researchers learn more about cutaneous neurofibroma and help them better understand NF1. There are many different types of studies, both now and in the future, that can be done using the specimens the investigators receive. These include using the specimens and information to look for new ways to diagnose and treat Neurofibromatosis Type 1 (NF1). The specimens may be used to study how genes affect health and disease, or how genes affect the way a disease or condition responds to treatment. Some of these studies may lead to new products, such as treatments or tests for diseases. Through this study, the investigators hope to find better ways to understand and treat NF1 in the future.

Skin tumors in Neurofibromatosis Type 1 (NF1) are very common and diminish quality of life. Apart from surgery, very few treatment options exist. In comparison to other types of tumors in NF1, skin tumors receive less attention in the research world because they almost never turn into cancer. Under the microscope, skin tumors and plexiform tumors look similar, however they do not share the same growth potential, nor do they appear at the same time during development. These differences suggest that skin tumors are driven by different factors than plexiform tumors.

In this study the investigators will be harvesting CNFs from 3 groups of subjects in order to obtain a minimum of 18 tumors in three size categories: \<5mm, 5-10mm, and \>1cm. These sizes were selected based on the variable natural history of CNF progression where incipient lesions (typically \<5mm) are more numerous and demonstrate a less aggressive growth pattern, whereas the intermediate group (5-10mm) represent a transition state towards growth to larger (\>1cm) lesions. Interestingly, CNF growth tends to stall out at 3cm. The investigators plan to do experiments that identify which factors are important to CNF progression, and then find matching drugs that can shrink the tumors.

Harvesting CNFs from 3 groups of subjects in order to obtain a minimum of 18 tumors in three size categories: \<5mm, 5-10mm, and \>1cm

Targeting the Mechanisms Underlying Cutaneous Neurofibroma Formation in NF1: A Clinical Translational Approach.

Identify which genomic factors are important to CNF progression, and find matching drugs that can shrink the tumors and improve quality of life.

Measuring the relationship between sun exposure and CNF growth and development.

Van Andel Research Institute

Spectrum Health Hospitals

Dr. Matthew Steensma

Antineoplastic Agents

All Drugs and Chemicals

Anti-Infective Agents

Imiquimod

Immunomodulating Agents

Immunologic Factors

Adjuvants, Immunologic

Interferons

Applied topically to three tumors 5 times per week for a full 6 weeks

Imiquimod 5% Cream

Scott R. Plotkin, MD, PhD

The purpose of this study is to determine if imiquimod cream can reverse the growth of neurofibromas. Imiquimod is a skin cream that works by stimulating the body's immune system to respond to tumors. Imiquimod cream is approved for use in patients with various skin lesions, including actinic keratosis, superficial basal cell carcinoma, and external genital warts. Information from these studies, as well as previous laboratory studies, suggest that imiquimod cream may help shrink neurofibromas or keep them from growing.

* Three of the participant's tumors will be treated with imiquimod cream and one tumor (out of all the remaining tumors) will be followed without treatment (control tumor).
* Participants will be given a tube of imiquimod cream and be asked to apply it to the three tumors 5 times per week, for a full 6 weeks (Monday through Friday).
* Participants will be required to come to the hospital for examinations on Week 1, 2, 4 and 6 (+/- 3 calendar days) and after their last dose of imiquimod cream on Weeks 9, 12 and 18 (+/- 5 calendar days. The following tests and procedures will be performed: skin test; vital signs and measurements and photographs of the tumors. Participants will be asked to participate in an optional skin biopsy on Week 4 and research blood tests wil lbe taken on Day 1.

Study title	NCT ID	Conditions	Interventions	Eligibility	Organization
Natural History Study of Cutaneous Neurofibromas in People With NF1	NCT05581511	Neurofibromatos... Neurofibromatos... Neurofibromatos... Cutaneous Neuro...	Evaluation of t...	1 Year - 100 Years	Johns Hopkins University
Targeting the Mechanisms Underlying Cutaneous Neurofibroma Formation in NF1: A Clinical Translational Approach.	NCT02777775	Cutaneous Neuro... Neurofibromatos... Plexiform Neuro...	Skin Biopsy	18 Years -	Spectrum Health Hospitals
Topical Imiquimod 5% Cream for Treatment of Cutaneous Neurofibromas in Adults With Neurofibromatosis 1	NCT00865644	Neurofibromatos... Cutaneous Neuro...	Imiquimod 5% Cr...	18 Years -	Massachusetts General Hospital
Targeting the Mechanisms Underlying Cutaneous Neurofibroma Formation in NF1: A Clinical Translational Approach.	NCT02777775	Cutaneous Neuro... Neurofibromatos... Plexiform Neuro...	Skin Biopsy	18 Years -	Spectrum Health Hospitals
Topical Imiquimod 5% Cream for Treatment of Cutaneous Neurofibromas in Adults With Neurofibromatosis 1	NCT00865644	Neurofibromatos... Cutaneous Neuro...	Imiquimod 5% Cr...	18 Years -	Massachusetts General Hospital

Spots Global Cancer Trial Database for cutaneous neurofibromas