View clinical trials related to Neurofibromatosis 1.
Filter by:Subjects with Neurofibromatosis Type 2 (NF2) and progressive vestibular schwannoma (VS) will be treated with crizotinib administered orally. Crizotinib will be taken continuously until disease progression or unacceptable toxicity, in continuous treatment cycles of 28 days each, for a maximum of 12 cycles.
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.
This phase I/II trial is designed to study the side effects, best dose and efficacy of adding hydroxychloroquine to dabrafenib and/or trametinib in children with low grade or high grade brain tumors previously treated with similar drugs that did not respond completely (progressive) or tumors that came back while receiving a similar agent (recurrent). Patients must also have specific genetic mutations including BRAF V600 mutations or BRAF fusion/duplication, with or without neurofibromatosis type 1. Neurofibromatosis type 1 is an inherited genetic condition that causes tumors to grow on nerve tissue. Hydroxychloroquine, works in different ways to stop the growth of tumor cells by killing the cells or stopping them from dividing. Trametinib and dabrafenib may stop the growth of tumor cells by blocking some of the enzymes needed for cell growth. Giving hydroxychloroquine with trametinib and/or dabrafenib may lower the chance of brain tumors growing or spreading compared to usual treatments.
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.
The primary objective of this study is to verify the safety of antigen-specific T cells (CAR-T) and engineered immune effector cytotoxic T cells (EIE) modified by immunoregulatory genes and immune modified dendritic cell vaccine (DCvac) in the treatment of neurofibromatosis or schwannoma.
To gain a better understanding of the underlying dysmotility in constipation in children, we will use a novel minimal invasive method called 3D Transit. We will examine four groups of children aged 7 to 17 years: healthy children, chronically constipated children (ROM IV criteria), children with neurofibromatosis type 1 and finally children receiving chemotherapy (vincristin) for acute lymphoblastic leukemia.
A roll-over study to assess long-term effect in pediatric patients treated with dabrafenib and/or trametinib.
This study evaluates mirdametinib (PD-0325901) in the treatment of symptomatic inoperable neurofibromatosis type-1 (NF1)-associated plexiform neurofibromas (PNs). All participants will receive mirdametinib (PD-0325901). Eligible participants may continue in a long-term follow-up phase.
.Neurofibromatosis type 2 is an inherently autosomal dominant genetic disease, but cases of mosaicism or de novo mutation are not uncommon. the prevalence is estimated at 1 / 60,000. the clinical presentation is based on the appearance of tumors in the central and peripheral nervous system. The current average age of diagnosis is around 25 to 30 years depending on the studies. Currently, the diagnostic criteria are based on the ENT, neurological and opthalmological manifestations of the disease. Cutaneous manifestations have been described in these patients. Except now, mucocutaneous manifestations of the disease are not taken into account for depisatage or diagnosis. The purpose of this study would be to identify the different cutaneous and mucosal manifestations in a pediatric population under 15 years of age, and to analyze whether this might be of interest in early detection of the disease in association with other symptoms.
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.