View clinical trials related to Neurofibromatoses.
Filter by:This study aims to understand predictors of adaptation and quality of life among adults affected with neurofibromatosis type 1 (NF1) and autosomal dominant neurocutaneous condition. NF1 carries a significant psychosocial burden for affected individuals. Aspects of NF1 that are especially challenging include the unpredictable nature of the disease, variability in severity of symptoms and medical complications, uncertainty in progression, and vulnerability to stigmatization due to the highly visible and often cosmetically disfiguring features of the condition. The literature suggests that because of these and other challenges posed by NF1, affected individuals may struggle to adapt to their condition and, consequently, experience poor quality of life. In this study, Lazarus and Folkman s Tranactional Model of Stress and Coping is used as a framework to conceptualize adaptation and quality of life to NF1. A cross-sectional design with quantitative methodology will be employed to investigate the relationships of appraisals and stigma as predictors of adaptation and quality of life. Adults affected with NF1 will be recruited via regional and national NF organizations and websites, as well as through ongoing NIH clinical research protocols for NF1. Eligible participants will be invited to complete a web-based, self-administered survey....
We propose to establish a multi-center study to investigate the outcome of scoliosis and spinal abnormalities in patients with NF1. The three specific aims of this study are: Specific Aim 1 - To assess health status and health-related quality of life (HRQL) in children and adolescents with NF1 and scoliosis. We hypothesize that children and adolescents with NF1 and scoliosis will experience an additional burden of morbidity due to scoliosis and a downward trajectory of health status and HRQL over time. Specific Aim 2 - To assess the natural history and short-term response to therapy in a cohort of children with NF1 and scoliosis prospectively diagnosed during the course of the four-year study period. We hypothesize that some NF1 patients with idiopathic scoliosis will modulate to the dystrophic form. We also hypothesize that NF1 patients with earlier presentation are more likely to have or modulate to the dystrophic form. Specific Aim 3 - To assess biochemical markers of bone metabolism in NF1 individuals. We hypothesize that NF1 individuals will have statistically significant differences in biochemical markers of bone metabolism compared to controls. We also hypothesize that NF1 individuals with scoliosis will have differences in biochemical markers of bone metabolism compared to NF1 individuals without scoliosis.
The purpose of this research study is to determine if ranibizumab can prevent the growth of neurofibromas. We will also be collecting extra blood and serum samples to help us learn more about NF1. Ranibizumab is a drug that affects the development of blood vessels that feed tumors. It targets a substance in the body called VEGF (Vascular Endothelial Growth Factor). VEGF helps tumors to grow and survive by supporting the growth of blood vessels that bring nutrients to the tumor. VEGF is made by cancerous tumors and also by non-cancerous tumors such as neurofibromas.
Treatment Overview This phase II study will evaluate the activity of sirolimus in children and adults with NF1 and inoperable plexiform neurofibromas that have the potential to cause significant morbidity. The following disease strata will be studied: Stratum 1: Progressive plexiform neurofibroma(s) that have the potential to cause significant morbidity. The endpoint will be time to tumor progression based on volumetric tumor measurements. Stratum 2: Plexiform neurofibromas without documented radiographic progression at trial entry. The endpoint will be radiographic response. As of May 2009, Stratum 2 was closed to enrollment. Stratum 1 is active.
The goal of this trial is to determine if children with neurofibromatosis type 1 who have reading disabilities respond the same way-both behaviorally and neurobiologically-to specialized treatment programs as children with idiopathic reading disabilities do, and to determine which intervention is best for particular learner profiles.
The purpose of this study is to find out what effects, good and/or bad, sunitinib has on patients and their tumors. At this time, no drugs are routinely used to treat meningioma, hemangioblastoma or hemangiopericytoma. Only surgery and radiation therapy are known to be useful. Sunitinib is a drug approved for advanced kidney cancer. Sunitinib is also being studied for other tumors. It may be useful in the treatment of brain tumors because it can prevent formation of new blood vessels that allow tumor cells to survive and grow.
The aim of this study is to determine if children with a higher disease severity have lower quality friendships than children who are less severely affected and children who are unaffected. Researchers will test the hypothesis that the quality of friendships is inversely related to their disease severity. Specific Aims: 1. To use the FQQ to determine if the quality of friendships in children with NF1 is lower than the quality of friendships in unaffected children. 2. To use a disease severity scale and the FQQ to determine if children who are less severely affected have higher friendship qualities than children who are more severely affected.
This study is for slow growing tumors called plexiform neurofibromas (PNF) which are a relatively common problem in people with neurofibromatosis type 1 (NF1). These tumors are benign but as they grow, they can become disfiguring as well as disabling or even life threatening. They often cause pain, difficulty using arms or legs because of spinal cord compression, and/or nerve damage. At present, the only available therapy for plexiform neurofibromas is to try to surgically remove as much of the tumor as is possible. Because these tumors grow into the surrounding areas, total surgical resection is often impossible. Most tumors will re-grow after surgery if the entire tumor cannot be removed. To date, other treatments including chemotherapy and radiotherapy have not been able to shrink these tumors. Interferon is a drug that is used for different types of tumors as well as for hepatitis. It has been used in the treatment of plexiform neurofibromas (PNF) with some subjects showing improvement in symptoms and/or a decrease in the size of the tumor. Most subjects had no further growth of their tumor while on the PEG-Intron. The drug used in this study is PEG (pegylated)-Intron. PEG-Intron is a long acting form of interferon which keeps the drug from being broken down in the body for a longer period of time and potentially could be more effective than the short-acting interferon. PEG-Intron has been approved by the Food and Drug Administration (FDA) for the treatment of Hepatitis C. The goals of this study are: 1. To determine how your child's plexiform neurofibroma responds to PEG-Intron when given weekly. 2. To determine the side effects of PEG-Intron when given weekly to participants with plexiform neurofibromas. 3. To evaluate a new method of measuring changes in the size of tumors called volume analysis. This method measures the entire volume of a tumor in three dimensions. The standard method of measuring tumors uses only the length and/or width of the tumor. By studying the different ways of measuring tumors the investigators hope to be able to determine which method is the most accurate and useful.
Neurofibromatosis type I (NF1) is a genetic disorder that affects approximately 1 in 3500 individuals. Half of people with NF1 inherit the condition from a parent, and half have a new occurrence of the condition. The manifestation of NF1 is highly variable and multiple organ systems are typically affected. Some of the more common symptoms include benign neurofibromas, café au lait spots, Lisch nodules (tan spots on the iris of the eye). Some individuals with NF1 also exhibit more severe associated conditions, such as optic pathway tumors (gliomas) or bones bending or curving. Neurocognitive deficits and specific learning disabilities occur in approximately 30 to 50% of individuals with NF1 and are regarded by some observers and sufferers to be among the most troubling features of a disease. The most commonly reported findings are deficits in visuoperceptual ability, motor coordination, expressive and receptive language, and executive functioning, which requires intact short-term memory and attention. Patients with NF1 also show a slight depression in mean IQ scores compared to healthy adults without the disorder. While cognitive deficits are now a widely-recognized feature of Neurofibromatosis Type 1 (NF1), the precise cause of these deficits still remain to be determined. Dr. Alcino Silva, a co- investigator on this study, has developed an animal model of NF1 in which mice have a specific mutation of the *NF1* gene. These mice are physically normal but show specific learning impairments. Dr. Silva's lab found that treatment with a medication called lovastatin, a drug typically used for high cholesterol, reversed some of the spatial deficits seen in these animals. Lovastatin is a medication commonly used to treat high cholesterol and has been proven to be relatively safe and tolerable in humans. The investigators are now conducting a randomized, double-blinded, placebo- controlled, trial of lovastatin in patients with NF1. Participants will be randomly assigned to lovastatin or placebo and treated for approximately 14 weeks with baseline and follow-up assessments to evaluate safety and any effects on neurocognitive test performance.
RATIONALE: Drugs used in chemotherapy, such as vinblastine and carboplatin, work in different ways to stop the growth of tumor cells, either by killing the cells or by stopping them from dividing. Giving more than one drug (combination chemotherapy) may kill more tumor cells. PURPOSE: This phase I trial is studying the side effects and best dose of vinblastine when given together with carboplatin in treating young patients with newly diagnosed or recurrent low-grade glioma.