View clinical trials related to Neurofibromatosis 1.
Filter by:FCN-159 is a highly active MEK1/2 inhibitor that was designed, synthesized and screened on the basis of the structure of trametinib. FCN-159 is an orally available and highly potent selective inhibitor of MEK1/2, which is expected to be a targeted therapy for the treatment of advanced solid tumors and neurofibromatosis type 1.
The main goal of this protocol is to develop a well-phenotyped genetic biobank to identify genetic variants associated with the heterogeneous clinical presentations of Neurofibromatosis Type 1 (NF1). This will allow for improve understanding of NF1 pathogenesis and more personalized disease management. The investigators will conduct a GWAS analysis to identify common genetic risk variants associated with the development of cutaneous neurofibromas.
A global study to demonstrate the effectiveness of selumetinib in participants with NF1 who have symptomatic, inoperable plexiform neurofibromas.
Background: People with Neurofibromatosis type 1 (NF1) have an increased risk of developing plexiform neurofibromas (PNs). PNs are tumors that form in the tissue. They can form anywhere in the body. They can become visible and cause deformations. Researchers want to see if selumetinib changes how PNs look in people with NF1. They also want to test a rating system for the visibility of these tumors. Objective: To see if treatment with selumetinib can improve the appearance of visible PNs in people with NF1, as determined by people who are/are not familiar with NF1. Eligibility: People with NF1 who have one or more visible PNs and have been enrolled in study 11C0161 or 08C0079. Clinicians and non-clinicians with and without experience in NF1 are also needed to serve as raters. Design: Participants are people with NF1 who had photos taken on study 11C0161 or 08C0079. Raters are people who will evaluate the PNs in the photos. They will rate the tumors on a scale from 1 to 10, from less to most visible. Participants medical records will be reviewed. Their photos will be shown to 28 raters. Raters will fill out a survey about their demographics, place of work, and if they are familiar with NF1. They will view sample photos to learn how PNs look and how to rate PNs. Raters will view photos of PNs taken before and after selumetinib treatment. They will also view photos of PNs that were not treated. They will rate PNs for up to 40 participants. They will have 1-2 sessions. Each session will last 1 hour....
This is a pilot randomized control trial of the UCLA PEERS protocol delivered via Telehealth with teens with neurofibromatosis type 1 whose parents report that they have difficulty making and keeping friends.
This is an open trial of the UCLA PEERS protocol delivered via Telehealth with teens with neurofibromatosis type 1 whose parents report that they have difficulty making and keeping friends.
Background: NF1 is a genetic syndrome. Tumors appear early in life. Many people with NF1 develop PN. These tumors can become an aggressive cancer called MPNST. People with MPNST may benefit from treatment with a MEK inhibitor (MEKi). Researchers want to learn if there is an increased risk of MPNST formation from MEKi treatment in people with NF1. To do this, they will review data that has been collected in NIH NF1 studies. Objective: To describe the characteristics of people who have taken part in NF1 studies at NIH and to compare the risk of MPNST formation in those treated with MEKi or other PN-directed treatment. Eligibility: People with NF1 who were seen at NIH from Jan. 1, 1998, to Jan. 1, 2020. Design: Participants medical records will be reviewed. Participants who opted out of future use of their data will not be included. Demographic data, like sex, race, and date of birth, will be collected. Data about MEKi and non-MEKi treatments will be collected. Clinical data, such as surgery and treatment details, will be collected. The differences between all participants who were seen at NIH for any NF1 related study will be compared. Participants will be put into 4 groups: History of MEKi therapy Treatment with tumor directed therapy other than MEKi Treatment with both MEKi and non-MEKi tumor directed therapies No tumor directed medical therapy Participants with NF1 who were treated for PN with either a MEKi treatment or a non-MEKi treatment will also be compared. The study will last for 3 to 6 months.
This is a single arm pilot trial of a novel whole-body Magnetic Resonance Imaging paired with artificial intelligence intervention, to evaluate feasibility defined as scan-rescan reliability, and to estimate the positive predictive value of changes in Magnetic Resonance Imaging scans from baseline to 12-month visit using an Artificial Intelligence algorithm, among 15 pediatric patients with neurofibromatosis type 1 at Cedars-Sinai Medical Center.
Background: NF1 is a genetic disease that causes tumors called atypical neurofibromas. These tumors, which arise from nerves, can cause serious medical problems. The only treatment is surgery. Researchers want to see if a drug called abemaciclib can help. Objective: To find a safe, tolerable dose of abemaciclib for treating atypical neurofibromas. Eligibility: People ages 12 and older who have NF1 and have one or more atypical neurofibromas that cannot or will not be removed with surgery Design: Participants will be screened with: Medical history and physical exam Blood, urine, and heart tests MRI: Participants will lie in a machine that takes pictures of the body. A padding or coil will be placed around their head. They may have a contrast agent injected into a vein. Biopsy sample: A small piece of tumor will be removed using a large needle. Participants will have frequent visits during the study. These will include repeats of the screening tests as well as the following: PET scan: Participants will lie in a machine that takes pictures of the body. They will have a contrast agent injected into their arm. Questionnaires about the effects of abemaciclib on pain and quality of life Possible photographs of tumors Participants will take abemaciclib capsules orally twice daily in 28-day cycles. They will take the drug for up to 2 years. Some may be able to take it for longer. Participants will have a follow-up visit about 30 days after their last dose of the study drug. Then they will have visits every 3 months for 1 year.
This study will evaluate the tolerability and effectiveness of three FDA-approved treatments in Neurofibromatosis Type 1 Cutaneous Neurofibromas. These treatments are: a 1064nm laser, a 755nm laser, and a Kybella injection. Each patient will have a treatment and a control site.