View clinical trials related to Neurofibromatoses.
Filter by:Background: RASopathies are a group of genetic diseases that affect a child s development. They cause physical, cognitive, and behavioral symptoms. Caring for a child with a RASopathy can be stressful. Acceptance and Commitment Therapy (ACT) is a therapy that helps people become more aware and accepting of difficult thoughts and feelings. ACT has been found to be helpful for parents with high parenting stress. Objective: To find out if Acceptance and Commitment Therapy (ACT) can help caregivers of children with a RASopathy better cope with parenting stress. Eligibility: People aged 18 years or older who care for a child (younger than 18 years) with a RASopathy. The child must live with the caregiver at least 50% of the time. Design: The study is fully remote. Participants need a mobile device that can play audio and video and connect to the internet. They can borrow an iPod if needed. Participants will download a free app called MetricWire. They will use this app to watch videos and answer questions. The first 8 participants will be in a pilot study. They will receive the ACT intervention starting the first week after they begin the study. After the pilot study, we will start a new phase called the randomized trial. In this phase, participants will have a 50-50 chance of being in the group that will start the intervention right away or the group that will start the intervention after about 2 months. Participants will fill out surveys on 5 random days each week. These surveys have 7 questions and take about 2 minutes. They will also fill out 3 longer questionnaires: once before ACT begins, once just after the 8-week study period, and once about 3 months later. Questions will cover topics including: Parenting stress Life satisfaction Self-compassion Uncomfortable feelings and thoughts Mindfulness Participants will take part in an 8-week ACT intervention. They will have one 75-minute session with an ACT coach in the first week. Participants will watch 9- to 17-minute videos each week. The videos talk about how to practice ACT techniques to cope with parenting stress. Participants will have 20- to 30-minute coaching sessions in weeks 3 and 6. The coach will help them practice exercises and work through any problems.
This is a Multi-center, Open-label, Single-arm Phase II Study to Evaluate the Efficacy and Safety of HL-085 in the treatment of Adult Participants with Neurofibromatosis Type 1 (NF1) and Inoperable Plexiform Neurofibromas(PN)
This study is designed to define a dosing regimen and assess the pharmacokinetics(PK) and safety of the granule formulation; the study will also include descriptive analyses of exploratory efficacy endpoints. The study will inform the benefit risk profile of the granule formulation in children aged ≥ 1 to < 7 years with NF1 related symptomatic, inoperable PN.
The purpose of this study is to identify tumor biomarkers in individuals with Neurofibromatosis type 1 (NF1). Biomarkers are signals that the investigator can measure that tell us about a process such as progress of a disease or treatment. Individuals with this diagnosis are at an elevated risk of developing a type of tumor called a plexiform neurofibroma. Currently, detecting the risk factors of these tumors in children is difficult and requires whole body imaging. The NF1 team at Lurie Children's established a way of using blood plasma in mice with neurofibromatosis type 1 to identify biomarkers that might signal the presence of tumors in people with NF1. This study is an effort to create biomarker profiles of patients with NF1 with known tumors. The study team will utilize whole-body MRI and mass spectrometry (a method for identifying unknown compounds and the properties of molecules). The ultimate goal of this study is to better understand the tumor biomarkers in patients with NF1.
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.
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.
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 overall objective is to demonstrate safety and efficacy of HIFU treatment of cutaneous neurofibromas located close to the surface of the skin in patients with the genetic disease Neurofibromatosis Type 1. The study will use a new investigational equipment that has been specially developed for dermatological therapy. The study includes 20 patients in total distributed between the two centers, each having a minimum of 8 cutaneous neurofibromas eligible for treatment. All participants are adults (over 18 years) of both sexes. The new treatment method is based on focusing intensive ultrasound just below the skin surface. This creates a very fast localized heating in small and very well-defined volumes containing neurofibroma tissue. This heating destroys or weakens the tissue, and the body's natural processes will subsequently transport affected cells away through the lymphatic and vascular systems. During the healing-process, the rejected tissue is replaced by new skin cells that are not expected to be fibrous. The treatment is intended to be carried out without breaking the skin surface, and open wounds are therefore avoided. This is an essential advantage of the method compared to all existing therapies, which are based on physical removal of tumors through an open skin surface (e.g. surgery or laser therapy). Complications with risk of pain, infection and scarring will therefore be significantly reduced with the new proposed method. The treatment is carried out by sending focused ultrasound from the handpiece of the equipment into the target area with neurofibromas. The equipment is set to send doses of approximately 150 milliseconds (0.15 seconds). The skin area and HIFU doses can be followed on the system computer screen and will be placed side-by-side with approximately 1-2 millimeter spacing. To achieve good energy transfer from handpiece to skin, ordinary ultrasound gel is used. There are no other special pre-treatments or preparations for the process. HIFU treatment is expected to be less painful than other treatments used. The treatment is quick, and typically takes less than 1 minute for a each area the size of a typical neurofibroma.