Active clinical trials for "Neurofibroma"

This study will examine whether the experimental drug R115777 (Tipifarnib) can shrink or slow the growth of plexiform neurofibromas in children and young adults with neurofibromatosis type 1 (NF1) and determine what side effects are related to treatment. Plexiform tumors arise from nerves; the only effective treatment is surgical removal. Often, however, not all the tumors can be removed, because of their number or location. Patients with NF1 have a reduced amount of the protein neurofibromin. Neurofibromin is thought to help control the activity of another protein, called ras, which regulates cell growth. Too little neurofibromin, therefore, may allow for uncontrolled cell growth and tumor formation. R115777 interferes with the function of the ras and other proteins. In test tube and animal studies, R115777 has blocked the growth of cancer cells. This study will examine whether the drug is effective against plexiform tumors. Patients with NF1 and progressive plexiform neurofibromas between 3 and 25 years of age may be eligible for this study. Patients whose tumors can be successfully removed surgically may not participate in this study. Candidates are screened with a medical history and physical and eye examinations, blood and urine tests, and magnetic resonance imaging (MRI). Photographs are taken of tumors visible on the body surface. Study participants are randomly assigned to receive either R115777 or placebo (an inactive substance). They take R115777 or placebo tablets every 12 hours for 21 days, followed by a 7-day rest period. This constitutes one 28-day treatment cycle. Treatment continues for as long as the tumors remain stable or shrink and side effects are tolerable. The treatment is switched (for example, from placebo to R115777) or stopped if the tumors grow or if side effects become unacceptable. Patients (or their parents) keep a record of side effects. For the first 3 treatment cycles, patients have a physical examination and blood tests every other week. Blood tests are also done before starting treatment, and at one time point after at least 14 days of treatment to measure the effect of R115777 on proteins in blood cells. A blood sample is obtained before starting treatment and before cycles 4, 7 and 10 and then after every 6 cycles to measure the level of a substance called nerve growth factor. The analysis of nerve growth factor is used to determine if it can predict which patients might be at risk of developing side effects from R115777.

A physical training program will improve quality of life, participation in physical activity, motor coordination, muscle strength, and bone and muscle strength in children with neurofibromatosis type 1.

This study has two primary objectives. The first is to determine if it is feasible and reliable for children and families with a diagnosis of Neurofibromatosis Type 1 (NF1) to use of blood pressure (BP) monitor at home. The second is to determine if there is a difference between a child's measured home BP using standard instructions or using a clinical hypnosis script. This will be determined by a randomised control trial design. Standard and hypnosis Home BP will be compared to the gold standard measurement of BP measured by a trained health care professional in clinic. Children who participate will complete a clinic-based BP with a health care professional, then will be randomised into either the standard home BP measurement or using a hypnosis script prior to BP measurement.

Neurofibromatosis-associated Tumor is very rare bone tumor. The investigator set up the biobank to ensure every patient has the chance to participate in future research

The purpose of this study is to look at a subset of plexiform neurofibromas and determine if the airway tumors are more sensitive to imatinib therapy. Funding Source - FDA OOPD

Currently, optic pathway gliomas (OPG) are detected based on abnormal findings made during annual ophthalmologic exams. However, because these exams are annual, it is possible for healthcare providers to miss the point at which a child's vision begins to decline (potentially indicating an OPG). If at-risk children are screened for hypotonia early in life, those children who are hypotonic may undergo magnetic resonance imaging (MRI) to evaluate for OPG before they are showing ophthalmologic symptoms. This would enable healthcare providers to discover vision loss earlier and treat symptomatic OPGs earlier, thereby allowing us a better chance of preventing further vision loss in children with OPGs.

This study aims to investigate synaptic physiology and behavioral inhibition in patients with NF1 and ASD and to answer whether inhibitory deficits at these levels are modulated by lovastatin. Structure: (1) Visit 1: Baseline assessment- participant's characterization, baseline outcome measures and additional evaluations, (2) 3 consecutive days of physiologically probing drug/placebo intake, (3) Visit 2: Outcome measures and additional evaluations in the day after the last drug/placebo intake, (4) Washout period of 4 to 6 weeks, (5) 3 consecutive days of drug/placebo intake, (6) Visit 3: Outcome measures and additional evaluations in the day after the last placebo/drug intake.

Background: Neurofibromatosis type 1 (NF1) is a genetic disorder. It has a broad variety of effects on the body. Up to half of people with NF1 get plexiform neurofibromas (PNs). These are benign tumors. But they can have serious effects like pain and disfigurement. To treat PNs, a person may have to take medicine every day for a long period of time. Researchers think that it will be important for people to take the medicine regularly for it to work. They want to study how well people with NF1 follow their treatment plan for PNs. Objective: To study how often people with neurofibromatosis type 1 take medicine that has been prescribed to them for treating plexiform neurofibromas. Eligibility: People ages 3-59 already enrolled in an NF1 clinical trial Design: Participants will need access to the internet to do the study activities. Parents or caregivers will do some study activities for child participants. Participants will complete 5 questionnaires. They will take about 20 minutes total. The topics will be: Demographic data Recent life events How much pain interferes with daily life Ability to focus and pay attention to tasks Emotional distress or depression Participants will mark down every time they take a dose of the medicine in their clinical trial. They will use a form the researchers give them. The pill bottles they get in their trial will have a chip in the cap that will record when it is opened. Participants will keep a daily diary of their medicine. Their pills will be counted at clinical trial visits. Participants may have more short questionnaires. They may have interviews by phone or video.

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder with an estimated prevalence of 1/2190 to 1/6711. Attention deficit hyperactivity disorder (ADHD) has been reported to be common in NF1. We, the researchers at Hospices Civils de Lyon, designed a randomized, double blind, placebo controlled, crossover trial with a total follow-up duration of 9 weeks to evaluate the effect of methylphenidate (MPH) on the improvement on the simplified parents Conners' Rating Scale. In a parallel exploratory study we will compare the nature of attention deficit disorders in NF1 children to 30 ADHD NF1-free controls. Children aged 7 to 12 years are eligible when their intelligence quotient (IQ) is between 80 and 120. Fifty subjects (25 for each period) were required for testing the primary study hypothesis.

Children with neurofibromatosis are more likely to have difficulties related to their psychological and neurocognitive functioning (e.g., more likely to have depression, have social difficulties, be diagnosed with ADHD). The purpose of this randomized control study is to determine how effective and useful this study's single session intervention can be in improving psychological and neurocognitive functioning. Enrolled families will consist of one parent/guardian and child. Parents and patients will complete questionnaires and objective tests at baseline, 3 months, and 6 months. Families randomized to the intervention arm will be provided with one single session intervention at Month 1 to learn about their child's testing results and receive psychoeducation and recommendations related to psychological and neurocognitive functioning.