View clinical trials related to Neurofibromatosis Type 1.
Filter by: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.
This is a phase I open label study designed to evaluate the safety, tolerability, PK and efficacy of selumetinib in Japanese paediatric patients with neurofibromatosis type 1 and inoperable and symptomatic plexiform neurofibroma.
The objective of this study is to determine if children and young adults with Neurofibromatosis Type 1 (NF1) and either Low Grade Gliomas (LGGs) or Plexiform Neurofibromas (PNs) have a specific frameshift peptide protein profile and whether a disease specific vaccine created to address these frameshift mutations and variants can be developed. Three study populations will be analyzed; patients with NF1 and active LGGs, NF1 and active PNs, and NF1 and no evidence of active LGGs or PNs. Participation involves a onetime blood draw.
The objective of this study is to study the function of the pigment epithelium in patients with neurofibromatosis type 1 using electro-oculogram to confirm abnormally high values reported in previous studies, but also to correlate this hyperactivity of the pigment epithelium with the presence and size of choroidal hyperreflective areas observed in infra-red imaging of the fundus. The hypothesis of the study is that the function of the pigment epithelium measured by the electro-oculogram correlates with the surface of choroidal hyperreflective areas. Finally, the potential consequences of a supra-normal function of the pigment epithelium on the global retinal function are not known. A full-field electroretinogram will evaluate the global neurosensory retinal function.
A roll-over study to assess long-term effect in pediatric patients treated with dabrafenib and/or trametinib.
It is known that children with NF1 can have weak muscles and suffer from tiredness. It is also known that in similar conditions affecting children's muscles, standing on a vibration device for a few minutes each day can strengthen muscles and improve their ability to perform day-to-day activities. The investigators believe this vibrating platform can be used to strengthen the muscles of children with NF1 also, beyond standard exercises, and therefore allow them to perform day-to-day activities better, do more activity and feel less tired. If families are keen to take part in this study, the investigators will first need to check they are suitable for the trial. This will be based on the participant's age (6-16 years), their other medical problems that would affect use of the vibration device or tests to assess how effective it is, and their level of muscle weakness. Once families have agreed to take part, participants will be randomised either to receive a muscle-strengthening exercise session delivered by a physiotherapist that children with weak muscles should continue to perform daily for the next 6 months; or to receive a vibration device to take home and use for a few minutes 5 days a week for 6 months as well as the exercises. All participants will be invited to attend for a variety of activities and tests, just before starting the trial and 6 months later at the end of the trial to see if there is any benefit from the vibration device. The investigators will repeat these tests again 3 months later, to see if any benefits observed remain, even after the device is removed. They will involve jumping, hopping and balancing on a board, gripping a machine as hard and as long as possible, being fitted with a device that measures activity for 7 days, walking as far as possible for 6 minutes, scanning muscles using MRI, completing a tiredness and general well-being questionnaires, and parents completing a questionnaire of the participant's attention and intellect. The jumping will also be performed 3 months into the study, to see if there is any early improvement in this key test. All participants will be given full details of what the trial involves before taking part. As with any other trial, participants and their families are free to stop taking part at any time. Although the investigators do not anticipate any safety issues, if any do arise, the families will be asked to contact the trial team.
This phase III trial studies if selumetinib works just as well as the standard treatment with carboplatin/vincristine (CV) for subjects with NF1-associated low grade glioma (LGG), and to see if selumetinib is better than CV in improving vision in subjects with LGG of the optic pathway (vision nerves). Selumetinib is a drug that works by blocking some enzymes that low-grade glioma tumor cells need for their growth. This results in killing tumor cells. Drugs used as chemotherapy, such as carboplatin and vincristine, work in different ways to stop the growth of tumor cells, either by killing the cells, by stopping them from dividing, or by stopping them from spreading. It is not yet known whether selumetinib works better in treating patients with NF1-associated low-grade glioma compared to standard therapy with carboplatin and vincristine.
Frequency of constitutional mismatch-repair deficiency among suspected neurofibromatosis type 1 patients without a NF1 mutation Constitutional mismatch repair deficiency (CMMRD) is a rare inherited condition. Individuals with CMMRD have an extraordinarily high risk to develop a malignant tumor in childhood or adolescence. Nearly all known CMMRD patients developed a malignancy within the first three decades of life and most often in (early) childhood. Since early cancer detection improves the chances to survive, these patients should be included from early childhood on in intensive cancer surveillance protocols. Typically patients are diagnosed with CMMRD only when they develop their first malignant tumor. Many children with CMMRD show already before the onset of the first malignant tumor clinical signs that may serve as a signpost of this severe condition. Often CMMRD patient show skin patches of milk coffee-like color, termed café au lait maculae (CALM), which are very typical for a different inherited condition named neurofibromatosis type 1 (NF1). NF1, which is much more frequent than CMMRD, also leads to tumor development. But NF1 tumors are usually benign and NF1 children need different, less rigorous, tumor surveillance programs than CMMRD patients. A child with >5 CALM is suspected of having NF1. However, if this diagnosis cannot be confirmed by identification of the causative genetic alteration (NF1-mutation), CMMRD is one possible, but presumably rare, alternative (= differential) diagnosis. Therefore, human geneticists and pediatricians discuss internationally, whether these children should be tested for CMMRD. Diagnosing CMMRD in this situation would allow offering appropriate cancer surveillance protocols to these patients before they develop their first malignant tumor. However, CMMRD testing in this situation may also cause difficulties. Genetic testing may for instance render an ambiguous result, which can neither confirm nor rule out CMMRD. Such a result would create great uncertainty of the appropriate management of the patient. It would be not clear whether intensive cancer surveillance, that may be very stressful for the patient and the family, should be applied or not. Such potential disadvantages of (with respect to tumor development) predictive CMMRD testing argue more against testing when the chances to identify CMMRD in a patient and consequently achieving a benefit for the patient are low. But currently the frequency of CMMRD patients among suspected NF1 patients without a causative NF1 mutation is unknown. It is the aim of this project to get a reliable estimation on the frequency of the differential diagnosis CMMRD in children with NF1 signs in whom the diagnosis NF1 cannot be confirmed. This information is needed to evaluate and weight the benefits and potential disadvantage of CMMRD testing in these children. To know this frequency is also important for appropriate genetic counseling of at risk children and their parents.
The present project will therefore focus upon those processes related to visual attention and perceptual abilities and on their potential to explain reading behavior and reading problems in NF1. The main objective of this study is to clarify the specificity and heterogeneity of reading profiles and the causes of its disturbance in NF1. In particular, this project allow the investigators to study more precisely the relations between perceptual, oculomotor and visuo-attentional skills in NF1 children and reading abilities. In addition, a new oculomotor/perceptual reading aid for NF1 children will be evaluated. The investigators believe that the early intervention for perceptual, visuo-attentional or oculomotor problems may promote academic skill development.
Objectives 1. Establish an induced pluripotent stem cell (iPSC) bank for phenotypically well-characterized patients with NF1. 2. Develop isogenic NF1 wild-type (NF1+/+), NF1 heterozygous (NF1+/-) and NF1 homozygous (NF1-/-) iPSC lines from individual patients using CRISPR/CAS9 technology. 3. Differentiate and characterize disease-relevant brain cells such as excitatory and inhibitory neurons, astrocytes and oligodendrocytes from patient-specific iPSC lines. 4. Screen and identify the drug(s) that can reverse or alleviate the disease phenotypes.