View clinical trials related to Neurofibromatoses.
Filter by:Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant genetic disorders. The aim of our study was to evaluate post-traumatic stress disorder (PTSD) in patients and their families following the disclosure of sporadic NF1. Diagnosis of NF1 was retained according to NIH criteria, familial forms were excluded. The French version of the Impact of Event Scale-Revised was used for the diagnosis of PTSD.
This will be an open-label, single-arm, multicenter intermediate access protocol which provides treatment access to selumetinib for eligible patients with neurofibromatosis type 1 (NF1) who have inoperable, progressive/symptomatic plexiform neurofibromas (PN) without any alternative therapeutic options. All patients will continue to receive drug while they are deriving clinical benefit. Approximately 100 patients in the US will be treated as part of this protocol
This is a phase II open label study that will evaluate children ≥ 1 year of age and adults with neurofibromatosis type 1 (NF1) and plexiform neurofibromas treated with the MEK inhibitor, binimetinib. The primary objective is to determine if there is an adequate level of disease responsiveness to binimetinib in children and adults with NF1 and inoperable plexiform neurofibromas. The objective response to binimetinib is defined as ≥ 20% decrease in tumor volume reduction by 12 courses.
Whole exome sequencing (WES) of 50 sporadic and 50 Neurofibromatosis Type2 (NF2)-associated vestibularis schwannomas (VS) in children and young adults. The aim is to gain insight into the complete genome of the NF2 associated VS compared to sporadic VS (control group). These data are to be correlated with the clinic, ie the auditory function (audiogram, acoustically evoked potentials) and the clinical picture as well as the tumor growth rate and general data such as sex, age, side, etc.
This phase II trial studies how well trametinib works in treating patients with juvenile myelomonocytic leukemia that has come back (relapsed) or does not respond to treatment (refractory). Trametinib may stop the growth of tumor cells by blocking some of the enzymes needed for cell growth.
Background: Gastrointestinal stromal tumors (GIST) can cause serious medical problems. The only known treatment is surgery. But completely removing a GIST tumor with surgery is often not possible. Researchers want to see if a new drug, selumetinib, can help treat these tumors. Objective: To find out if selumetinib shrinks or slows the growth of GIST tumors and to see its side effects. Eligibility: People ages 3 and over who have one or more GIST tumors and may have neurofibromatosis type I (also called NF1). Their NF1 GIST has shown some growth or cannot be completely removed with surgery. Design: Participants will be screened with heart and eye tests and scans. Participants will be told what foods and medicines they cannot take during the study. Participants will keep a diary of the medicine they take during the study. Participants will take selumetinib capsules twice daily on an empty stomach for 28 days in a row. This is 1 cycle. During the cycles, participants will have study visits. These may include: Medical history Physical exam Blood and urine tests Heart tests Scans of their tumors Eye exam Positron emission tomography scan. They will be get radioactive glucose an IV line. They will lie quietly in a darkened room for 50-60 minutes then have the scan. Participants will answer questions about how they are feeling. Participants can stay in the study until they have bad side effects or their tumor grows. After finishing treatment, participants will be watched for side effects for 30 days.
This is a small study of the oral MEK1/2 inhibitor, selumetinib, to evaluate the potential utility of selumetinib in individuals ≥ 18 years old with Neurofibromatosis 1 (NF1) and cutaneous neurofibromas (cNFs). The study aims to determine whether selumetinib will result in shrinkage of existing cutaneous neurofibromas and if it prevents or delays the development of new cutaneous neurofibromas.
In this research study the researchers want to learn more about the effects (both good and bad) the study drug selumetinib has on participants with neurofibromatosis type II (NF2) related tumor. The researchers are asking patients with NF2 related tumors to be in the study, because their hearing has decreased and/or their NF2 related tumor has started to grow. The goals of this study are: - Determine if selumetinib will stop NF2 related tumors from growing - Measure the changes in hearing after receiving selumetinib for 6 months. - Determine if selumetinib improves how participants feel (physically and emotionally) and how participants can perform daily activities. - Examine tumor tissue, if available, in a laboratory to see if NF2 related tumors have targets of selumetinib.
This is an open, controlled, prospective, proof-of-concept study, in 7 patients presenting NF1 and cutaneous neurofibromas. This study will include three treatment visits to the study center and three follow-up visits. Treatment will consist of two stages: neurofibroma microporation using the laser device, followed by topical application of one drop of diclofenac 25mg/ml on the surface of the neurofibroma; followed by re-application of one drop of diclofenac, twice daily, for three days. The applications subsequent to the first application will be performed by the patients. Subjects will return to the study center at three day intervals (Assessments 2 & 3) for new microporation and topical diclofenac application, followed by at-home topical diclofenac application for three more days. Assessment 4 will take place 3 days after Assessment 3. Assessment 5 will take place 7 days after the end of the treatment period and Assessment 6 at 30 days after the last application of study drug. The primary efficacy variable in this study is the inflammatory process with the presence of tissue necrosis. The primary safety variable is the occurrence of adverse events considered to be associated with the study drug, occurring during the treatment period.
This is a phase II prospective, randomized, double-blind, longitudinal study evaluating whether the administration of aspirin can delay or slow tumor growth and maintain or improve hearing in VS patients.