View clinical trials related to Neurofibromatosis 1.
Filter by:Neurofibromatosis type 1 (NF1) is an autosomal dominant disease affecting chromosome 17. It is manifested by a neurogenic tumor proliferation that forms cutaneous, subcutaneous or deep neurofibromas. Neurofibromas can cause functional discomfort, neurogenic pain that is difficult to treat, and severe cosmetic disorders. Treatment is essentially surgical. It is sometimes a heavy invasive surgery with complicated postoperative follow-up and significant scarring on the aesthetic level. Currently, no systemic treatment has proven its effectiveness in this pathology. Percutaneous cryotherapy is a cold thermoablation procedure using fine 17 G needles introduced into the lesion after targeting by imaging. This technique is used in the treatment of soft tissue tumors and desmoid tumors. The treatment of neurofibromas with percutaneous cryotherapy is not well known. Encouraging results (unpublished) have been observed in patients with NF1 treated with cryotherapy at the Léon Bérard Center. The beneficial effect was observed in terms of quality of life (in particular, pain) as well as a decrease in tumor size. On the basis of this first experience, it appears important to corroborate these preliminary results by a prospective study allowing the use of this technique to treat patients with unresectable or resectable neurofibromas but with mutilating surgery in a NF1 context.
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).
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
This is a two-staged, Phase 2/3, randomized, multi-center study to investigate the efficacy and safety of REC-2282 in patients with progressive NF2 mutated meningiomas.
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.
This is a pilot randomized control trial of the UCLA PEERS protocol delivered via Telehealth with teens with neurofibromatosis type 1 whose parents report that they have difficulty making and keeping friends.
This is a single arm pilot trial of a novel whole-body Magnetic Resonance Imaging paired with artificial intelligence intervention, to evaluate feasibility defined as scan-rescan reliability, and to estimate the positive predictive value of changes in Magnetic Resonance Imaging scans from baseline to 12-month visit using an Artificial Intelligence algorithm, among 15 pediatric patients with neurofibromatosis type 1 at Cedars-Sinai Medical Center.
Background: NF1 is a genetic disease that causes tumors called atypical neurofibromas. These tumors, which arise from nerves, can cause serious medical problems. The only treatment is surgery. Researchers want to see if a drug called abemaciclib can help. Objective: To find a safe, tolerable dose of abemaciclib for treating atypical neurofibromas. Eligibility: People ages 12 and older who have NF1 and have one or more atypical neurofibromas that cannot or will not be removed with surgery Design: Participants will be screened with: Medical history and physical exam Blood, urine, and heart tests MRI: Participants will lie in a machine that takes pictures of the body. A padding or coil will be placed around their head. They may have a contrast agent injected into a vein. Biopsy sample: A small piece of tumor will be removed using a large needle. Participants will have frequent visits during the study. These will include repeats of the screening tests as well as the following: PET scan: Participants will lie in a machine that takes pictures of the body. They will have a contrast agent injected into their arm. Questionnaires about the effects of abemaciclib on pain and quality of life Possible photographs of tumors Participants will take abemaciclib capsules orally twice daily in 28-day cycles. They will take the drug for up to 2 years. Some may be able to take it for longer. Participants will have a follow-up visit about 30 days after their last dose of the study drug. Then they will have visits every 3 months for 1 year.
Children with neurofibromatosis type 1 (NF1) commonly suffer from the effects of cognitive, behavioral, and motor impairments. At present, there is no specific treatment for this NF1 complication. In this project, the investigators will assess the safety and clinical benefit of N-acetylcysteine (NAC) as a pharmacological intervention in children with NF1. This drug choice is based on the recent findings from mouse models to study the central nervous system manifestations of NF1 at Cincinnati Children's Hospital Medical Center (CCHMC). These findings revealed a role for myelin-forming oligodendrocytes in the control of nitric oxide synthases (NOS) and their product, nitric oxide (NO), in maintenance of brain structure and function, including regulation of behavior and motor control. Treating these mice with NAC corrected cellular and behavioral abnormalities. This data from animal models of NF1 along with uncontrolled clinical observations in children with NF1 suggest that the antioxidant compound, NAC, may reduce these impairments. Therefore, the investigators propose performing a single center double-blind placebo controlled, prospective, Phase II study to explore safety, tolerability, and efficacy of NAC on motor behavior and/or learning in children with NF1 aged 8 through 16 years old. Participants will be carefully monitored for side effects. Primary and secondary outcome measures will be administered at baseline, follow-up, and post-treatment.
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.