Active clinical trials for "Neurofibromatosis 2"

This study tests the efficacy of an 8-week, Skype-based, group resiliency training intervention (The Relaxation Response Resiliency Program) for improving psychological stress in patients with Neurofibromatosis. A control group will receive a general health education curriculum. The investigators hypothesize that patients will improve on measures of psychological stress as a result of the resiliency program. A substudy (Unique Protocol ID: 2013P002605b) has been approved to test this study on a sub-population: patients with NF2 who are hard of hearing.

The aims of this study are to compare the effect and durability of two stress and symptom management programs tailored for patients with neurofibromatosis on quality of life and psychosocial functioning.

Neurofibromatosis 2 (NF2) is a rare inherited condition. Those with NF2 usually present with tumours (schwannomas) in their inner ear, or vestibular organ, with common symptoms including problems with hearing, balance, dizziness and vision. This study aims to evaluate the reliability (stability) of a range of functional standardised outcome measures in adults with NF2.

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.

The primary objective is to estimate the proportions of vestibular schwannomas (VS) and meningiomas after 10 days of exposure to the study drug RAD001 at a dose of 10 mg daily, as determined by immunohistochemistry. This is a "phase 0" PK (pharmacokinetic) and PD (pharmacodynamic) study of RAD001 in patients with Neurofibromatosis Type 2-related and sporadic VS and meningiomas. Enrolled patients will take RAD001 prior to a scheduled VS or meningioma surgery, and blood and tissue samples will be obtained for further analysis.

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.

The Nucleus 24 Auditory Brainstem Implant (ABI) is the only FDA approved device for restoration of meaningful hearing in Neurofibromatosis Type 2 (NF2) patients. This device has been discontinued, meaning that there is no commercially approved device currently available. The replacement model, the ABI541 (an unapproved device), is being investigated in ongoing clinical trials. A compassionate use arm of a clinical trial allows patients with NF2 to be implanted with this new ABI.

OBJECTIVES: I. Define the growth rates and clinical course of NF2-related tumors in patients with neurofibromatosis type 2. Associate growth rate with physical function.

.Neurofibromatosis type 2 is an inherently autosomal dominant genetic disease, but cases of mosaicism or de novo mutation are not uncommon. the prevalence is estimated at 1 / 60,000. the clinical presentation is based on the appearance of tumors in the central and peripheral nervous system. The current average age of diagnosis is around 25 to 30 years depending on the studies. Currently, the diagnostic criteria are based on the ENT, neurological and opthalmological manifestations of the disease. Cutaneous manifestations have been described in these patients. Except now, mucocutaneous manifestations of the disease are not taken into account for depisatage or diagnosis. The purpose of this study would be to identify the different cutaneous and mucosal manifestations in a pediatric population under 15 years of age, and to analyze whether this might be of interest in early detection of the disease in association with other symptoms.