View clinical trials related to Neurofibromatosis 1.
Filter by:Background: - People with chronic illness often are at risk for developing neurobehavioral problems due to effects of the disease or associated treatments. These problems may include cognitive impairments involving problem-solving, remembering things, paying attention, and understanding and using language, or emotional functioning or quality of life. - The National Cancer Institute Medical Illness Counseling Center Neuropsychology Group has collected data from neurobehavioral evaluations of infants, children, adolescents and adults with chronic illnesses enrolled in NIH protocols since 1987 and continues to collect data from patients enrolled in current protocols. - The data from these evaluations, along with demographic and medical information are stored in an NIH computer database. - Investigating the neurobehavioral functioning of patients with chronic illness is important for identifying and monitoring the effects of the disease and treatments over time, determining possible at-risk subgroups, evaluating response to therapy, and recommending educational and rehabilitative interventions. Objectives: -To learn about how certain illnesses or treatments may affect a person s cognitive abilities, emotional functioning and quality of life. Eligibility: - Patients currently enrolled in NIH studies who are having neuropsychological testing or completing quality-of-life questionnaires as part of that study. - Data obtained from infants, children, adolescents, and adults administered neurobehavioral assessments as part of a past or future NIH protocol. Design: - This study does not involve any extra tests or questionnaires; it uses information collected from evaluations that subjects have already completed or will complete as part of other NIH studies. - Information about participating patients that may help elucidate how cognitive abilities, emotional functioning, and quality of life are affected in people with chronic illness may be collected and stored.
Background: Patients with the genetic disorder neurofibromatosis Type 1 (NF1) are at increased risk of developing tumors of the central and peripheral nervous system. These include plexiform neurofibromas. The conventional treatment of these internal plexiform neurofibromas is surgery. This surgery can be possible on a single and limited tumor. On the other hand these tumors are often surgically intractable due to their multiplicity and their infiltrating characteristics Increased activity of mammalian target of rapamycin(mTOR) protein is seen in neurofibromas. mTOR inhibitor rapamycin , or its derivatives such as everolimus may slow or stop tumor growth in patients with NF1. Objectives: Primary objectives To determine whether everolimus has an effect on the volume of surgically intractable and life-threatening internal plexiform neurofibromas in patients with neurofibromatosis 1. Secondary objectives To determine whether everolimus has an effect on the number and the volume of cutaneous neurofibromas; to determine whether everolimus modify the signaling pathways in cutaneous neurofibromas. Eligibility: - Adults with neurofibromatosis type 1 with at least one internal plexiform neurofibroma, life-threatening or causing significant morbidity through compression of organs. This or these internal plexiform neurofibroma(s) should be intractable by surgery. Design: An open-label, single arm, non-randomized, single stage phase IIa study. Baseline phase: Baseline evaluations will be performed within 2 weeks, and up to a maximum of 4 weeks for specific exams, before the first dose of study drug. Treatment phase/duration of treatment: All patients will be treated with RAD001 10 mg p.o daily dose for one year except in case of unacceptable toxicity, death, or discontinuation from the study for any other reason. Follow-up phase: All patients will have two follow-up visits scheduled at 18 and 24 months after the first dose of the study drug to follow for adverse events (AEs) and serious adverse events (SAEs) that may have occurred after discontinuation from the study and for internal plexiform neurofibromas assessment. Radiological review: All Magnetic Resonance Imaging (MRIs) obtained at baseline, during the treatment period and the follow-up period will be reviewed by the Neuroradiologist of the study.
The Neurofibromatosis Type 1 (NF1) Patient Registry Initiative (NPRI) is a web-based registry that asks participants to fill out a 30-minute online questionnaire to collect information about the spectrum of medical and social problems experienced by children and adults with NF1. The information gained from your participation may one day help doctors develop personalized treatments for individuals living with NF1. We are currently enrolling individuals with NF1 who either (1) HAVE previously been diagnosed with a brain tumor younger than 18 years or (2) HAVE NEVER had a brain tumor. Please note: there is no therapy associated with this study. Individuals may participate in the registry by going to https://nf1registry.wustl.edu/
This is a pilot study to determine if adults and children with neurofibromatosis type 1 who have plexiform tumors given Sutent® respond to this drug therapy.
This study will evaluate the antitumor activity and safety of RAD001 in patients with Plexiform neurofibromas (PN) associated with Neurofibromatosis Type 1 (NF1). The aim of the study is to : 1. determine whether RAD001, administrated orally daily on a continuous dosing schedule might: 1. Increases time to disease progression (TTP) based on volumetric MRI measurements in children and adults with NF1 in inoperable documented progressive PN (stratum 1). 2. Results in objective radiographic responses based on volumetric MRI measurements in children and adults with NF1 and inoperable PN in the absence of documented radiographic progression at the trail entry (stratum 2. To evaluate the tolerability and toxicity of chronic RAD001 administration in this patient population as assessed by the NCI Common Toxicity Criteria, version 4.0.
Background: - Plexiform neurofibromas are tumors that grow in and around nerves. The only way to treat them is with surgery. Some of these tumors cannot be completely removed. The tumors may be too large, too numerous, or in a bad location for surgery. An experimental drug called AZD6244 hydrogen sulfate may be able to prevent the tumors from growing, slow down their growth, or shrink them. This drug has been tested in adults with cancer and in children with some types of brain cancer. This study will test how well this drug works with these types of tumors. Objectives: - To study the safety and effectiveness of AZD6244 hydrogen sulfate in children and young adults with plexiform neurofibromas that cannot be completely removed by surgery. Eligibility: - Children and young adults between 12 and 18 years of age who have plexiform neurofibromas that cannot be completely removed by surgery. Design: - Patients will be screened with a physical exam, medical history, blood tests, and imaging studies. - They will take the study drug twice a day with 8 ounces of water, every day for 28-day cycles of treatment. During study visits, participants will have blood and urine tests and physical exams. They will also have imaging studies to examine the tumor sizes and locations. They will answer questions about their health. They may have other tests as needed. - Participants will continue to receive the study drug as long as they have no severe side effects and the disease is not getting worse.
The purpose of the study is to determine if RAD001 treatment will shrink or slow the growth of the vestibular schwannoma(s) in Neurofibromatosis 2 (NF2) patients. Secondary objectives include determining if RAD001 treatment will improve hearing ability in NF2 patients. RAD001 is an oral drug that is approved by Food and Drug Administration (FDA) for other types of tumors, it is not approved by the FDA for treatment of NF2 related tumors.
The purpose of this study is to determine if a drug called sorafenib can shrink LGA tumors (low-grade astrocytomas) in children and adults. Previous research has given us a better understanding of this type of tumor by studying the genetic "make-up" of LGAs. From this research, the investigators found that a drug called sorafenib may stop the growth of tumor cells by blocking some of the molecules needed for cell growth and by blocking blood flow to the tumor. This trial is studying how well sorafenib works in treating patients with LGAs, and how the effects relate to the specific genetic "make-up" of your particular tumor. This testing of your tumor's genetic make-up is optional and requires available tumor tissue for testing. In summary, the aims of this study are: To see if sorafenib can shrink LGAs; how well sorafenib is tolerated in patients with LGAs; and, how the effects of sorafenib relate to the genetic make-up of individual LGAs (Optional Study)
Background: - Neurofibromatosis type II (NF2) is associated with tumors of the nerves, brain, and spinal cord. Most people with NF2 develop vestibular schwannomas, or tumors on the hearing and balance nerves. As they grow, vestibular schwannomas can cause hearing loss and balance problems. If they grow very large they can cause more serious problems, such as seizures, loss of eyesight, weakness, speech problems, and problems with the sense of touch. More research is needed into NF2 because researchers do not completely understand why these tumors occur or what makes them grow over time. - Currently, tumor size is measured with magnetic resonance imaging (MRI) scans. However, MRI scans cannot predict how fast a tumor will grow. By using positron emission tomography (PET) scanning, researchers hope to be able to predict sudden growth spurts of tumors associated with NF2 and develop better treatment methods for this type of cancer. Objectives: - To use magnetic resonance imaging and positron emission tomography to better understand the growth of brain tumors in people with neurofibromatosis type II. Eligibility: - Individuals between 18 and 50 years of age who have been diagnosed with NF2 and have at least three untreated intracranial tumors. Design: - This study requires an initial set of outpatient visits to the NIH Clinical Center that will last 7 to 10 days. - Participants will have a physical and neurological examination and blood tests at the first visit. Participants will then have the following imaging studies to examine the tumors: - MRI scans of the brain - PET scans of the brain, combined with a computed tomography (CT) scan. The PET scans will be performed on separate days. Different contrast agents will be used for both scans, so researchers will inform participants if they need to fast or follow other procedures before having the scan. - After the initial imaging studies, participants will have additional MRI scans every 6 months for 2 years to track tumor growth.
Neurofibromatosis type 1 (NF1) is a frequent autosomal dominant disorder, caused by heterozygous mutations of the NF1 tumor suppressor gene (chr.17q11.2). One of the main clinical features is the development of benign and malignant tumors. The most common benign tumors in these patients are tumors of the peripheral nerve, named neurofibromas. Every NF1 patient has a life time risk of 8-13% to develop a malignant peripheral nerve sheath tumor (MPNST) starting from a pre-existing neurofibroma. MPNSTs lead to a bad prognosis for the patient, with an overall five-year survival of less than 25%. Complete resection is the standard treatment, but this is often difficult due to the size of the tumors and the location on important nerves, moreover the tumor is frequently metastatic at the time of diagnosis. For MPNSTs, like for other cancers, the extent and the spread of the disease at time of diagnosis is an important factor in determining treatment outcome. In this regard, the analysis of tumor derived cell-free circulating DNA in plasma of NF1 patients would open up the possibility to diagnose and monitor the development and progression of MPNSTs using a small blood sample. In cooperation with P. Schöffski (UZLeuven), we plan to collect blood samples from cancer patients to optimize the DNA extraction procedure starting from plasma samples. It is known that patients with cancer have a higher amount of free circulating DNA in plasma than individuals without cancer and therefore we want to optimize the DNA extraction procedure on plasma from patients with cancer. In the meantime, matching MPNST and plasma samples from NF1 patients will be collected and sent to us from the University of Eppendorf (Victor Mautner) to optimize the array CGH protocol for the detection of copy number changes in plasma DNA of NF1 patients with MPNSTs.