Neoplasms

Nervous System Diseases

Diseases and Abnormalities at or Before Birth

All Conditions

Symptoms and General Pathology

Skin and Connective Tissue Diseases

Behaviors and Mental Disorders

Rare Diseases

Neurofibromatoses

Neurofibromatosis 1

Neurofibroma

Nerve Sheath Neoplasms

Neoplasms, Nerve Tissue

Neoplasms by Histologic Type

Syndrome

Neoplastic Syndromes, Hereditary

Neurocutaneous Syndromes

Heredodegenerative Disorders, Nervous System

Neurodegenerative Diseases

Genetic Diseases, Inborn

Peripheral Nervous System Diseases

Neuromuscular Diseases

Nervous System Neoplasms

Peripheral Nervous System Neoplasms

Quality of Life

Neurofibromatosis

Neurofibromatosis Type 1

Barbara B Biesecker

This study aims to understand predictors of adaptation and quality of life among adults affected with neurofibromatosis type 1 (NF1) and autosomal dominant neurocutaneous condition. NF1 carries a significant psychosocial burden for affected individuals. Aspects of NF1 that are especially challenging include the unpredictable nature of the disease, variability in severity of symptoms and medical complications, uncertainty in progression, and vulnerability to stigmatization due to the highly visible and often cosmetically disfiguring features of the condition. The literature suggests that because of these and other challenges posed by NF1, affected individuals may struggle to adapt to their condition and, consequently, experience poor quality of life. In this study, Lazarus and Folkman s Tranactional Model of Stress and Coping is used as a framework to conceptualize adaptation and quality of life to NF1. A cross-sectional design with quantitative methodology will be employed to investigate the relationships of appraisals and stigma as predictors of adaptation and quality of life. Adults affected with NF1 will be recruited via regional and national NF organizations and websites, as well as through ongoing NIH clinical research protocols for NF1. Eligible participants will be invited to complete a web-based, self-administered survey....

This study aims to understand predictors of adaptation and quality of life among adults affected with neurofibromatosis type 1 (NF1) and autosomal dominant neurocutaneous condition. NF1 carries a significant psychosocial burden for affected individuals. Aspects of NF1 that are especially challenging include the unpredictable nature of the disease, variability in severity of symptoms and medical complications, uncertainty in progression, and vulnerability to stigmatization due to the highly visible and often cosmetically disfiguring features of the condition. The literature suggests that because of these and other challenges posed by NF1, affected individuals may struggle to adapt to their condition and, consequently, experience poor quality of life. In this study, Lazarus and Folkman s Transactional Model of Stress and Coping is used as a framework to conceptualize adaptation and quality of life to NF1. A cross-sectional design with quantitative methodology will be employed to investigate the relationships of appraisals and stigma as predictors of adaptation and quality of life. Adults affected with NF1 will be recruited via regional and national NF organizations and websites, as well as through ongoing NIH clinical research protocols for NF1. Eligible participants will be invited to complete a web-based, self-administered survey.

Adaptation and Quality of Life Among Adults With Neurofibromatosis Type I

National Human Genome Research Institute (NHGRI)

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

Neurofibroma, Plexiform

Whole Body MRI along with standard of care regional MRI and blood draw at enrollment followed by Whole Body MRI along with standard of care regional MRI and blood draw after 4-6 months.

WBMRI with axial and coronal STIR (short inversion time inversion recovery) images + DWI (diffuse weighted imaging) will be performed and compared to regional MRI to assess value of this diagnostic test for the identification of suspicious looking lesions (i.e. diffuse nodular lesions or atypical plexiform neurofibroma)

Whole Body MRI

Miriam Bornhorst, MD

This study is being conducted to determine if Whole Body MRI (WBMRI) can be used to identify Atypical Neurofibromas (ANF) in Neurofibromatosis Type 1 (NF1) patients with high tumor burden. Each enrolled participant will have two (2) WBMRIs without sedation during the study period. Eligible participants must be Male or Female between the ages of 8-30 with diagnosed NF1; with one or more PN greater than 3cm in diameter and willing to comply with study procedures.

This is a study to determine the feasibility of using Whole Body MRI (WBMRI) to detect Atypical Plexiform Neurofibromas (ANF) among Neurofibromatosis Type 1 (NF1) patients who are at highest risk for developing these tumors. In order to do this, the investigators will prospectively obtain WBMRI scans on patients with high plexiform tumor burden (which investigators will define as \>=1 plexiform neurofibroma (PN) that is \>3cm in diameter on MRI) at the same time as their regularly scheduled MRI to allow for radiographic comparison of the identified PNs. In this study, the investigators will plan to establish a method that effectively characterizes PNs in terms of their volume, radiographic appearance on WBMRI and association with clinical characteristics.

As an exploratory aim, the investigators plan to collect blood samples from each patient at the same time as the MRI to determine the feasibility of isolating cfDNA (circulating free DNA) from plasma of patients with high plexiform tumor burden.

Whole Body MRI to Identify Atypical Neurofibromas in Patients With NF1

Whole Body MRI to Identify Atypical Neurofibromas in Patients With NF1 and High Plexiform Neurofibroma Tumor Burden

Level of cfDNA in plasma of participants with ANF compared to participants without ANF

Number of NF1 participants with high tumor burden who have ANF on WBMRI

Number of patients with high PN tumor burden who have clinical symptoms

Study title	NCT ID	Conditions	Interventions	Eligibility	Organization
Adaptation and Quality of Life Among Adults With Neurofibromatosis Type I	NCT00684398	Neurofibromatos... Von Recklinghau... NF1		18 Years -	National Institutes of Health Clinical Center (CC)
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
Whole Body MRI to Identify Atypical Neurofibromas in Patients With NF1	NCT03820778	Neurofibromatos... Neurofibroma Atypical Neurof... Atypical Neurof... Plexiform Neuro... Von Recklinghau...	Whole Body MRI	8 Years - 30 Years	Children's National Research Institute
Adaptation and Quality of Life Among Adults With Neurofibromatosis Type I	NCT00684398	Neurofibromatos... Von Recklinghau... NF1		18 Years -	National Institutes of Health Clinical Center (CC)

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