View clinical trials related to Neurofibromatosis 1.
Filter by:Neurofibromatosis Type 1 (NF1) is a common genetic disorder that is associated with a four times greater risk of learning disabilities, including reading disabilities, and a deficiency of neurofibromin - a protein important in a signaling pathway that regulates learning and memory. Our previous work (NS49096) demonstrated that school-age children with NF+RD can respond to standard phonologically-based reading tutoring originally developed to treat reading disability in the general population. Combining our work with that by other researchers suggesting that a medication (Lovastatin) may counteract the effects of the deficient neurofibromin, and possibly ameliorate learning disabilities in NF1, the investigator propose to examine the synergistic effects of medication plus reading tutoring.
The purpose of the research study is intended to use specimens (such as tissue) and medical information in the Laboratory of Musculoskeletal Oncology at the Van Andel Research Institute for laboratory research in Grand Rapids, Michigan. Small tissue samples of cutaneous neurofibromas will be collected as part of this research. The samples will help researchers learn more about cutaneous neurofibroma and help them better understand NF1. There are many different types of studies, both now and in the future, that can be done using the specimens the investigators receive. These include using the specimens and information to look for new ways to diagnose and treat Neurofibromatosis Type 1 (NF1). The specimens may be used to study how genes affect health and disease, or how genes affect the way a disease or condition responds to treatment. Some of these studies may lead to new products, such as treatments or tests for diseases. Through this study, the investigators hope to find better ways to understand and treat NF1 in the future.
The investigators wish to determine the time to disease progression for benign neurofibromas treated with Levulan Kerastick topical photosensitizer and red light photodynamic therapy (PDT) in patients with neurofibromatosis type 1 (NF1). The investigators also wish to measure tumor size for control and treatment tumors in order to gain insights into tumor growth rates.
This phase I trial studies the side effects and the best dose of a vaccine therapy in treating patients with malignant peripheral nerve sheath tumor that cannot be removed by surgery (unresectable) or has come back after a period of improvement (recurrent). Vaccines made from a gene-modified virus may kill tumor cells expressing a gene called neurofibromin 1 (NF1) without affecting surrounding normal cells and may also help the body build an effective immune response to kill tumor cells.
Background: Neurofibromatosis type 1 (NF1) is a disorder that can cause plexiform neurofibromas (PNs). These are tumors that grow along nerves. Some PNs cause serious health problems. PNs often can t be operated on because of their large size, location, or number. There are no effective treatments known for people with NF1 and PNs. Researchers want to test if the drug selumetinib (AZD6244 hydrogen sulfate) causes PNs to shrink or slows down their growth. Objectives: To test if selumetinib helps treat PNs. To test how the body handles selumetinib and how it affects peoples symptoms. Eligibility: People ages 18 and older with NF1, with an inoperable PN that causes morbidity or is growing Design: Participants will be screened with: Medical history and physical exam Blood, urine, and heart tests Eye exam MRI: They lie in a machine that takes pictures of the body. PN biopsy: A small piece of the tumor is removed by a large needle. Questionnaires Participants will swallow selumetinib capsules every 12 hours for several 28-day cycles. The capsules are taken with a full glass of water on an empty stomach. Participants may have only water for 2 hours before and 1 hour after each dose. Participants will keep a drug diary. They will continue taking the drug as long as they tolerate it and their disease doesn t progress. Participants will have several visits throughout the study. These will include repeats of the screening tests. Participants will have a final visit after they stop taking selumetinib.
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.
Both Neurofibromatosis type 1 (NF1) and Tuberous Sclerosis Complex (TSC) are highly heterogeneous diseases. Cognitive features seem to vary widely even between family members carrying the same mutation. This phenotypic variability is not well understood, but is generally assumed to be caused by modifier genes which regulate the affected pathways. However, recent studies brought forward an alternative explanation for the phenotypic variability. Post-mortem studies showed that second hit mutations causing loss of the second ('healthy') allele are more widespread than previously believed. These loss of heterozygosity (LOH) mutations cause bi-allelic loss of the disease-linked gene and are known to cause the gross of somatic features in both diseases (like neurofibromas and hamartomas). Hence, it could be the stochastic occurrence of second-hit mutations in the brain are the cause of the variable cognitive phenotypes. To investigate to what extent these LOH mutations in the brain contribute to the phenotype and to what extent this variation is due to genetic modifiers factors is unknown. The investigators therefore propose to elucidate this variability by comparing the correlation of cognitive features of monozygotic twins with NF1 or TSC to healthy twins in the population. If modifier genes are the cause of the variability of cognitive features in NF1 and TSC the investigators expect that the variability in cognitive tests in monozygotic twins is the same as monozygotic twins in the healthy population. However, if the variability is caused by the occurrence of LOH mutations, the investigators expect to have a lower correlation in our monozygotic patients compared to the healthy twins.
Background: - Some people with cancer have solid tumors. Others have refractory leukemia. This may not go away after treatment. Researchers want to see if a drug called TURALIO(R) can shrink tumors or stop them from growing. Objectives: - To find the highest safe dose and side effects of TURALIO(R). To see if it helps treat certain types of cancer. Eligibility: - People ages 3-35 with a solid tumor or leukemia that has returned or not responded to cancer therapies. Design: - Participants will be screened with: - Medical history - Physical exam - Blood and urine tests - Heart tests - Scans or other tests of the tumor - Participants will take TURALIO(R) as a capsule once daily for a 28-day cycle. They can do this for up to 2 years. - During the study, participants will have many tests and procedures. They include repeats of the screening tests. Participants will keep a diary of symptoms. - Participants with solid tumors will have scans or x-rays. - Participants with leukemia will have blood tests. They may have a bone marrow sample taken. - Some participants may have a biopsy. - When finished taking TURALIO(R), participants will have follow-up visits. They will repeat the screening tests and note side effects.
The goal of this project is to get more insight into the (neuro)ophthalmological characteristics of children with neurofibromatosis type 1. This way investigators would like to update the current guidelines for follow up and treatment of optic pathway gliomas. Clinical findings will be compared with the results of Optical coherence tomography (OCT) and MRI (magnetic resonance imaging).
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.