Active clinical trials for "Neurofibroma"

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.

The goal of this prospective observational study is to learn about the utility of imaging and clinical features in patients with Neurofibromatosis type 1 categorized as high risk for the development of malignant peripheral nerve sheath tumors. The main objectives are: To evaluate the prevalence, multi-parametric imaging features of distinct nodular lesions ("DNLs") and natural history in people with NF1 with clinical and genetic features deemed "high-risk" for malignancy. To assess the relationship between individual clinical, genetic and imaging factors that have been suggested to be risk factors for malignant peripheral nerve sheath tumors (MPNST) and the confirmation of atypical neurofibromas (aNF)/ atypical neurofibromatous neoplasm of unknown biologic potential (ANNUBP) or MPNST on pathology. In this research study, the participants will be asked to undergo whole body MRI, provide blood sample and clinical evaluation annually.

Background: People with neurofibromatosis 1 (NF1) who have plexiform neurofibromas (pNFs) can have pain that affects their daily lives. This study aims to improve questionnaires that measure their pain, daily living, and physical functioning. Objectives: To examine and improve questionnaires about daily living for people with NF1 and pNFs. Eligibility: People ages 5 and older with NF1 and a pNF Design: Participants will be screened with medical history. This study will have 2 phases. Phase 1 participants will talk about existing pain assessment questionnaires and how pNFs affect their life. They will have group discussions of up to 8 people of a similar age with NF1 and pNFs, or the parents of children with it. These will last about 90 minutes. Children ages 5 to 7 and their parents will have one-on-one meetings instead. These will last about 45 minutes. Discussions will be audiotaped. After the questionnaires have been changed, individual interviews will discuss the new wording, instructions, questions, and electronic format of the new forms. Phase 2 is now complete. Phase 1 participants may be invited to Phase 2. Phase 2 participants will complete the new questionnaires. These may be pen-and-paper or electronic. The questionnaires will take about 30 minutes for adults and teens. Children will work one-on-one with a staff member and may need up to 45 minutes. A small group of participants will be complete the forms twice-in clinic and 1 month later at home. Also, a small group who start a new pain treatment or have a dose increase in their treatment will complete the forms twice-before the treatment change and 1 month later.

The RASopathies are a group of developmental disorders caused by genetic changes in the genes that compose the Ras/mitogen activated protein kinase (MAPK) pathway. New RASopathies are being diagnosed frequently. This pathway is essential in the regulation of the cell cycle and the determination of cell function. Thus, appropriate function of this pathway is critical to normal development. Each syndrome in this group of disorders has unique phenotypic features, but there are many overlapping features including facial features, heart defects, cutaneous abnormalities, cognitive delays, and a predisposition to malignancies. This research study proposes to collect and store human bio-specimens from patients with suspected or diagnosed RASopathies. Once obtained, blood and/or tissue samples will be processed for: metabolic function studies, biomarkers, genetic studies, and/or the establishment of immortalized cell lines. In addition, data from the medical record (including neuropsychological evaluations) and surveys will be stored to create a longitudinal database for research conducted at CCHMC or at other research institutions.

To examine the test-retest reliability (how stable the results are when the same participants, whose symptoms have remained stable, are assessed on 2 different occasions, 14 days apart) of the 10 meter walk test, the timed up and go test, the functional reach test and the grip dynamometry test in adults with neurofibromatosis 1 (NF1).

The main goal of this protocol is to develop a well-phenotyped genetic biobank to identify genetic variants associated with the heterogeneous clinical presentations of Neurofibromatosis Type 1 (NF1). This will allow for improve understanding of NF1 pathogenesis and more personalized disease management. The investigators will conduct a GWAS analysis to identify common genetic risk variants associated with the development of cutaneous neurofibromas.

Neurofibromatosis type 1 is a common genetic disease with a broad spectrum of clinical manifestations in multiple organs of the body. This project will study the (dys)function of mitochondria in patients with neurofibromatosis through multiple collections of blood samples from patients and people not afflicted by neurofibromatosis (control group). This study will evaluate how the function of mitochondria changes with time and if medications and supplements can influence the function of the mitochondria. Patients will also answer questions regarding symptoms like fatigue and pain.

The NF Registry is a database of patient-reported symptoms, treatments, and experiences with their neurofibromatosis disease. It is a contact registry to relay clinical trial opportunities to targeted patient subgroups, and to supply de-identified disease data to researchers. It has the potential to become a natural history resource.

Neurofibromatosis 1 (NF1) is a multisystem disorders characterized by skin abnormalities, such as café-au-lait spots and neurofibromas, learning disabilities, skeletal anomalies and vascular complications. Experience learns that this disorder is a great burden for patients. NF1 is an autosomal dominant disorder with 50% risk of transmission. The penetrance is nearly 100%, but the expression varies greatly even within families, which makes it nearly impossible to predict severity in offspring. Preimplantation genetic diagnosis (PGD) is a reproductive option for couples at risk of transmitting NF1 to their offspring. We perform a retrospective and observational multicentric study in the Maastricht University Medical Center, the University Hospital of Brussel and Strasbourg University Hospital. Our specific (and first) goal is to evaluate the molecular aspects of PGD for NF1 in an international cohort of couples requesting PGD for NF1. About 50% of the patients with NF1 have a de novo mutation that can complicate development of a PGD test. Earlier studies from 1990 and 1992 have shown that de novo NF1 mutations usually occur on the paternal allele. We want to confirm these findings with collected data from our cohort. The high incidence of de novo mutations results in a higher chance of finding mosaicism in patients or their parents. As a result of this, it can become apparent during PGD test preparation that PGD treatment is no longer possible or indicated. The investigators will evaluate these aspects of PGD for NF1 in our cohort. They are also interested, as a second goal, in other aspects of PGD treatment for NF1, such as the success rate in thier cohort. They expect the success rate to be the same as for other autosomal dominant disorders

NOTE: This is a research study and is not meant to be a substitute for clinical genetic testing. Families may never receive results from the study or may receive results many years from the time they enroll. If you are interested in clinical testing please consider seeing a local genetic counselor or other genetics professional. If you have already had clinical genetic testing and meet eligibility criteria for this study as shown in the Eligibility Section, you may enroll regardless of the results of your clinical genetic testing. While it is well recognized that hereditary factors contribute to the development of a subset of human cancers, the cause for many cancers remains unknown. The application of next generation sequencing (NGS) technologies has expanded knowledge in the field of hereditary cancer predisposition. Currently, more than 100 cancer predisposing genes have been identified, and it is now estimated that approximately 10% of all cancer patients have an underlying genetic predisposition. The purpose of this protocol is to identify novel cancer predisposing genes and/or genetic variants. For this study, the investigators will establish a Data Registry linked to a Repository of biological samples. Health information, blood samples and occasionally leftover tumor samples will be collected from individuals with familial cancer. The investigators will use NGS approaches to find changes in genes that may be important in the development of familial cancer. The information gained from this study may provide new and better ways to diagnose and care for people with hereditary cancer. PRIMARY OBJECTIVE: Establish a registry of families with clustering of cancer in which clinical data are linked to a repository of cryopreserved blood cells, germline DNA, and tumor tissues from the proband and other family members. SECONDARY OBJECTIVE: Identify novel cancer predisposing genes and/or genetic variants in families with clustering of cancer for which the underlying genetic basis is unknown.